[Senate Hearing 108-967]
[From the U.S. Government Publishing Office]
S. Hrg. 108-967
PRENATAL GENETIC TESTING TECHNOLOGY: SCIENCE, POLICY, AND ETHICS
=======================================================================
HEARING
before the
SUBCOMMITTEE ON SCIENCE, TECHNOLOGY,
AND SPACE
of the
COMMITTEE ON COMMERCE,
SCIENCE, AND TRANSPORTATION
UNITED STATES SENATE
ONE HUNDRED EIGHTH CONGRESS
FIRST SESSION
__________
NOVEMBER 17, 2004
__________
Printed for the use of the Committee on Commerce, Science, and
Transportation
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SENATE COMMITTEE ON COMMERCE, SCIENCE, AND TRANSPORTATION
ONE HUNDRED EIGHTH CONGRESS
FIRST SESSION
JOHN McCAIN, Arizona, Chairman
TED STEVENS, Alaska ERNEST F. HOLLINGS, South
CONRAD BURNS, Montana Carolina, Ranking
TRENT LOTT, Mississippi DANIEL K. INOUYE, Hawaii
KAY BAILEY HUTCHISON, Texas JOHN D. ROCKEFELLER IV, West
OLYMPIA J. SNOWE, Maine Virginia
SAM BROWNBACK, Kansas JOHN F. KERRY, Massachusetts
GORDON H. SMITH, Oregon JOHN B. BREAUX, Louisiana
PETER G. FITZGERALD, Illinois BYRON L. DORGAN, North Dakota
JOHN ENSIGN, Nevada RON WYDEN, Oregon
GEORGE ALLEN, Virginia BARBARA BOXER, California
JOHN E. SUNUNU, New Hampshire BILL NELSON, Florida
MARIA CANTWELL, Washington
FRANK R. LAUTENBERG, New Jersey
Jeanne Bumpus, Republican Staff Director and General Counsel
Samuel E. Whitehorn, Acting Democratic Staff Director and General
Counsel
------
SUBCOMMITTEE ON SCIENCE, TECHNOLOGY, AND SPACE
SAM BROWNBACK, Kansas, Chairman
TED STEVENS, Alaska JOHN B. BREAUX, Louisiana, Ranking
CONRAD BURNS, Montana JOHN D. ROCKEFELLER IV, West
TRENT LOTT, Mississippi Virginia
KAY BAILEY HUTCHISON, Texas JOHN F. KERRY, Massachusetts
JOHN ENSIGN, Nevada BYRON L. DORGAN, North Dakota
GEORGE ALLEN, Virginia RON WYDEN, Oregon
JOHN E. SUNUNU, New Hampshire BILL NELSON, Florida
FRANK R. LAUTENBERG, New Jersey
C O N T E N T S
----------
Page
Hearing held on November 17, 2004................................ 1
Statement of Senator Brownback................................... 1
Statement of Senator Lautenberg.................................. 3
Witnesses
Bruchalski, Dr. John, Board Certified Obstetrician and
Gynecologist................................................... 11
Prepared statement........................................... 13
Chicoine, MD, Brian, Medical Director, Adult Down Syndrome
Center, Advocate Lutheran General Hospital..................... 15
Prepared statement........................................... 18
Hudson, Ph.D., Kathy, Director, Genetics and Public Policy
Center, Berman Bioethics Institute and Institute of Genetic
Medicine, Johns Hopkins University............................. 20
Prepared statement........................................... 22
Imparato, Andrew J., President and Chief Executive Officer,
American Association of People with Disabilities (AAPD)........ 27
Prepared statement........................................... 30
Kimbrell, J.D., Andrew, Executive Director, International Center
for Technology Assessment...................................... 32
Prepared statement........................................... 35
Sensenbrenner, Cheryl, Board Member, American Association of
People with Disabilities....................................... 5
Prepared statement........................................... 7
Appendix
Lautenberg, Hon. Frank R., U.S. Senator from New Jersey, prepared
statement...................................................... 47
Written questions submitted by Hon. Frank R. Lautenberg to the
witnesses...................................................... 48
PRENATAL GENETIC TESTING TECHNOLOGY: SCIENCE, POLICY, AND ETHICS
----------
WEDNESDAY, NOVEMBER 17, 2004
U.S. Senate,
Subcommittee on Science, Technology, and Space,
Committee on Commerce, Science, and Transportation,
Washington, DC.
The Subcommittee met, pursuant to notice, at 2:05 p.m. in
room SR-253, Russell Senate Office Building, Hon. Sam
Brownback, Chairman of the Subcommittee, presiding.
OPENING STATEMENT OF HON. SAM BROWNBACK,
U.S. SENATOR FROM KANSAS
Senator Brownback. I call the hearing to order. Thanks for
being here with us this afternoon.
I hope this hearing--I've called you here during the Lame
Duck portion of our session, and I hope it starts a dialogue on
an important topic that has, for too long, I think, been
avoided, ignored, not delved into, and yet has profound impacts
on our society and actually who we are as a people. And we hope
to start that here today.
As Chairman of this Subcommittee, I called this hearing to
examine the science, policy, and ethics of prenatal genetic
testing technology and its impact on individuals.
On our first panel, we'll welcome Mrs. Cheryl
Sensenbrenner, wife of Congressman Sensenbrenner, who I've had
the great privilege to work with, and her sister, Tara Rae
Warren.
On our second panel, witnesses will discuss the ethics and
examine the scientific merits of prenatal screening and
diagnostic testing technologies and their impacts on patients
and doctors, parents and children.
And, as I said with this, I hope we start a dialogue, a
much needed dialogue, on this important subject that I think
has been swept under the carpet for too long and needs to be
brought out in the open.
We have succeeded in mapping the human genome, a masterful
scientific achievement. And tied to this achievement, we now
have rapid advancements in technology for genetic screening
tests able to detect over 450 fatal or debilitating conditions.
I called this hearing because I am unsatisfied that we are
doing our best here in the United States to ask the right
questions in order to safeguard all human life.
The first ``do no harm'' principle of medical ethics should
bind the rapid advance of scientific technology and its
applications to patients. There is no question that this and
similar topics are reverberating around the globe. Just listen
to some of the following examples.
A recently released survey in New Zealand found that 1 out
of 15 people who took genetic tests for hereditary diseases
felt coerced into doing so by family members, insurance
companies, or mortgage lenders.
In England, all embryos produced for IVF treatments are now
being screened for cystic fibrosis and Huntington's disease, as
well as for genetic predisposition to certain types of cancer.
The Estonian Government's health website proudly claims
that since a hereditary disease program was instituted in 2003,
40 babies with Down's Syndrome have been, quote, ``unborn'' and
the birth of, quote, ``sick babies'' prevented, with the help
of prenatal diagnostic tests.
The Netherlands is discussing euthanasia for children up to
12 years old, targeting disabled children. Research suggests
that, in the Netherlands, pediatricians make decisions in about
a hundred cases each year that result in the death of babies
with severe multiple handicaps.
And here at home, in the U.S., we seem to be finding that
women diagnosed with an abnormal baby are coming under pressure
to terminate their pregnancy. In 2001, the American College of
Obstetricians and Gynecology recommended tests for cystic
fibrosis to all Caucasian couples, even though Kaiser
Permanente reported that among its Northern California
patients, 95 percent of the couples who were carriers, and
whose fetuses tested positive, terminated their pregnancies.
Insurance companies, both public and private, will have to
make coverage decisions as genetic screening technology
continues to advance. And such decisions must be made based on
the ethical impact of the test on the primary patient: the
unborn.
While I applaud our passage last year of the Genetic
Nondiscrimination Act, we must assure that families receive
full protection from discrimination on the basis of tests on
the unborn. Health plans that do not normally cover surgical
abortion may determine that it is cost effective to do so if
the procedure occurs in concert with the genetic testing
protocol.
It is my hope that this hearing will start a dialogue
around some of these issues before healthcare providers and
geneticists and possibly insurance companies start making these
decisions for us.
As we consider the fast pace of scientific and
technological progress in our modern world, we must not lose
our moral compass. It would be devastating to replace our
``First, do no harm'' principle with a more utilitarian model
based on collective economic viability. We don't want a world
where parents feel driven to justify their children's
existence.
In addition to the many abilities that persons with
disabilities have which are equivalent to others, these
individuals bring a beauty to our world that we don't want to
miss. We learn compassion, heroism, humility, courage, and
self-sacrifice from these special individuals. And their gift
to us is that they inspire us, by their example, to achieve
these virtues ourselves.
I look forward to the discussion, and I look forward to the
panel's presentation on this important topic.
Senator Lautenberg, do you have an opening statement?
STATEMENT OF HON. FRANK R. LAUTENBERG,
U.S. SENATOR FROM NEW JERSEY
Senator Lautenberg. Yes. Thanks very much, Mr. Chairman.
And I agree with you that concern for children is a
critical issue. I have four kids and ten grandchildren, and
when I cast a vote in this Committee or on the Senate floor, I
think about the effect that the vote will have on them. So I
share your concern about children.
But this hearing isn't really about children. It's another
attempt to advance an anti-choice agenda. And that's not the
role of this Subcommittee.
Now, I've reviewed the hearings that this Subcommittee has
held during the 108th Congress, and--this Subcommittee has
jurisdiction over a number of issues--we've had 14 hearings on
NASA, and a sprinkling of hearings on some other relevant
topics. But the reason that we have Committees that have
jurisdiction is so we can cover all of the subjects that are
our responsibility, and there is no limit to the amount of the
Committee concerns that we have.
But this Committee--and this is taken from our website--and
I hope the witnesses will forgive me, because I don't differ
with your being able to talk about the issues that concern you.
We're proud to have both of you here. The question is whether
or not we are taking time from this Committee when, in fact, we
have other responsibilities. The Subcommittee on Science,
Technology, and Space hearings in the 108th Congress
subcommittee jurisdiction: National Aeronautic and Space
Administration--we've had 14 hearings there; National Oceanic
and Atmospheric Administration, one; National Science
Foundation--we sat in this very room yesterday talking about--
you talk about threats to children--we're talking about the
climate change that we're witnessing these very days and the
effect that this could have on families and children and
communities being wiped out by flooding or atmospheric
conditions that will not only not permit new life to begin, but
end life as we know it; National Institute of Standards and
Technology, not one hearing. Not one.
And I had mentioned the National Science Foundation. I went
down to the South Pole to see what we're doing there about
protecting our communities from being over--from being flooded
because of changes in climate. Not one hearing--not one--in
this Subcommittee.
Office of Science and Technology Policy, pretty important,
one hearing. Fire administration--Lord knows we've had enough
problems with forest fires and needs for being ready for any
attacks that we might have on our country, fire. Federal R&D
funding, one hearing. One hearing. We haven't really had a
discussion of the need for stem cell research. Internet, not an
important subject, I guess, in this committee, this
Subcommittee on Science, Technology, and Space. Not one hearing
on the Internet. Earthquake research problems and programs--
we've had one hearing.
The Committee, I remind you--Subcommittee on Science,
Technology, and Space. That's what our jurisdiction is.
Encryption. Are we talking about encryption today so we can
find out what's happening before we send our kids into battle,
to find out how we protect our society? No, we're not doing any
of that. International Science and Technology, one hearing.
Total, 19. This is over 2 years.
May I see the other? These are called extra-jurisdictional.
The anti-abortion agenda--and people are free to make choices;
I don't want to rob my colleague, Senator Brownback, from
making his decisions about things, but this, again, the
Committee on Science and--Subcommittee on Science and
Technology. Media indecency and violence, two hearings.
Marriage promotion, one hearing. Marriage promotion. Science
and Technology. And now we're finding new ways to address the
title, so we throw the word ``science'' in there to pretend
that it really is a science interest. ``A New Kind of
Science.'' That's a whole other subject.
We've had, in the two years that we've been in business, 12
hearings in these extra-jurisdictionals, 19 hearings in the
nature of our business.
I object to the hearings on--the 11 hearings on those
issues that are beyond this Subcommittee's jurisdiction--
hearings on divorce, abortion, stem-cell research--thinly
veiled attempts to push the anti-abortion views. And, again,
that's up to each individual. That's the wonder of our society,
is that you can express yourself, express it in the proper
forum. You can't hear--under the Freedom of Speech, you can't
holler ``Fire'' in a theater, and, in this Subcommittee, we
ought not to be reviewing things that don't belong in our
jurisdiction.
It's telling that panels are always presented here with
anti-choice witnesses to prevent a fair debate about some of
the very serious topics. These 11 hearings promote a certain
set of cultural values.
And I don't want to be misunderstood, I have no problem
with holding these values or voting in any way that's
consistent with them. That's the individual's right. But I do
object to hijacking this Subcommittee, at taxpayer expense, to
push an agenda that properly falls under the purview of the
Judiciary and Health Committees.
And I reviewed these hearings that the Subcommittee held,
and found it shocking as I looked at what we've accomplished.
Fourteen hearings on NASA, a sprinkling of hearings, five
others, on some other relevant topics. But when there are 11
hearings on issues that are beyond this Committee's
jurisdiction--Subcommittee's jurisdiction, I am discouraged by
it, and I am challenging the ability of this Committee to
lead--this Subcommittee--to lead the agenda that we have an
obligation to fulfil, and proceed with an agenda that pushes
one person's--the Chairman's--view on what is moral and
immoral.
There are other Committees to take care of this, Mr.
Chairman. If this Subcommittee is going to be used in this
fashion, then I propose that we hold hearings and get social
scientists here to testify on the impacts that long-term
childlessness has on families, whether or not we ought to be
doing research on all kinds of illnesses and problems, and
healthcare for children, until perhaps they're age 12, free of
charge, regardless of family income. Those are the things that
we might want to talk about. We can hold hearings to determine
whether or not we are fully funding postnatal care, Head Start,
and No Child Left Behind.
Those are the things that I think we ought to be focusing
on, Mr. Chairman, and I raise my objection with all due respect
and friendship, but total disagreement.
Senator Brownback. Thank you.
Mrs. Sensenbrenner, thank you very much for joining us
today. As you can tell in the Committee, we've had a lot of
hearings the last 2 years, and we're delighted that you're
here. We're delighted that you're here with your sister, and
look forward to your presentation.
Be sure you get the microphone, if you can, close so that
we can all hear your presentation.
Mrs. Sensenbrenner. OK?
Senator Brownback. Yes.
Mrs. Sensenbrenner. Thank you.
STATEMENT OF CHERYL SENSENBRENNER, BOARD MEMBER,
AMERICAN ASSOCIATION OF PEOPLE WITH DISABILITIES
Mrs. Sensenbrenner. Thank you, Mr. Chairman and Members of
the Senate Commerce, Science, and Transportation Subcommittee
on Science, Technology, and Space.
Thank you for inviting me to testify on the implications of
the new prenatal genetic testing technologies for people with
disabilities and their families. I'm honored to have this
opportunity.
My name, as you know, is Cheryl Sensenbrenner, and I am a
Board Member of the American Association of People with
Disabilities, AAPD. This is a national nonprofit, nonpartisan
membership organization promoting political and economic
empowerment for the more than 56 million disabled children and
adults in the United States.
I am also here as a woman with a disability, and, probably
most importantly, as the proud sister of a woman with Down's
Syndrom, Tara Rae Warren. I am delighted that my sister, Tara,
is able to be with us today for this important hearing.
Whereas my friend and colleague Andy Imparato will approach
today's topic from a public policy standpoint, my comments
today will be more personal.
Although we are currently making progress in public
attitudes, there is still a strong tendency in American society
to underestimate the positive contributions that people with
disabilities are capable of making--if they're given a chance.
I have seen people continually underestimate what my sister is
capable of doing, and I have seen what can happen when people
believe in her and give her an opportunity to shine.
Because Tara's mental disability is physically recognized,
she is almost daily subjected to snide remarks, odd looks, and
put-downs. Tara has faced many obstacles with no fear and total
perseverance. Through her early education and with our family
and my mom's support, and dad's, Tara has been able to support
herself with various jobs. This financial independence has been
a great sense of pride for Tara--or Tari, as we call her. She
has been able to pay for her own car--that she drives--and her
car insurance.
In the past few elections--and, indeed, in the last
election--Tara has been a nonpartisan, paid poll-worker in
Wisconsin. Tara has completed her high school education and
taken a couple of college courses. She has given speeches to
student teachers of special education on the challenges of her
disability. And, later, Tara would be most happy to answer any
questions you might have--once she stops blushing--after me.
I'm very proud of her.
Although I don't often encounter the same degree of
paternalism that my sister has faced, I can tell you, from my
own personal experiences living with a disability for all of my
adult life, that people frequently underestimate or overlook my
capacity--capabilities, as well. Many people assume that my
injuries occurred after my marriage to my husband,
Representative F. James Sensenbrenner, Jr. No, my husband got
me in a wheelchair or, at my best times, on my Canadian
crutches; and, today, often I function as I am with a cane, a
leg brace; and sometimes, in bad times, in a wheelchair.
This has been a lifelong journey with me since I was 22
years old. For an example, I can remember when my father--he
was the AG, Attorney General, in Wisconsin--we were going to a
bank while I was working at the capital, sitting in the lobby,
waiting for my dad, and a bank executive came in, looked at me,
and stated, ``People like that belong on the park benches out
front, not in our lobby.'' He was holding the money in his bank
that I was making in my job as a disabled person. I find it
amazing that someone with a higher education would still think
with such a closed mind. This is one small example out of
thousands.
I can also remember back when the physically disabled were
determined not-qualified to serve on a jury. I am curious to
know whether they truly believed that I would be mentally unfit
due to my physical disability or if it was simply an issue of
handicap accessibility.
Being a disabled person can be difficult, but it's not
impossible to deal with. On the positive side, with the support
of my dear family and friends, only certain sports and pretty
shoes with heels remain unapproachable to me.
When I had children, I didn't have to worry about prenatal
genetic testing, because the science hadn't evolved to a point
where that testing was widespread. Indeed, I was initially told
not to get married or have children or a job. So, in those
days--we have advanced somewhat from that time for people that
are disabled.
I know that in recent years the science and practice of
prenatal genetic testing has grown, so that now it is very
common for pregnant moms to be offered screening tests to
determine the likelihood that their baby would be born with
conditions like Tara's--Down's syndrome--or spina bifida, which
is similar, somewhat, to what I have now, or can be.
I'm concerned that expecting parents are being asked to
consent to tests without really understanding the pros and cons
of participating in this kind of testing. I am also even more
concerned that expecting parents are being given the positive
results of prenatal diagnostic tests for conditions like Down's
syndrome--for instance, if they have a positive test and know
they will have a Down's child--without giving good information
about what it's like to raise a child with Down's syndrome, or
what supports and programs exist in the community for people
with disabled children.
When you couple the uninformed fears and concerns many
parents are likely to have when they receive this kind of
prenatal diagnosis, the pressures they perceive from their
treating professionals, families, and friends to terminate the
pregnancy, you have a recipe for uninformed decisionmaking that
can dramatically reduce the numbers of babies born with Down's
syndrome and other congenital disabilities.
As someone who can testify to the great joy and love that
my sister has brought to me and my family--and, in fact, the
community and the world--I am saddened and disheartened to
think that the new genetic technologies would have this kind of
impact.
As a parent, I'm deeply troubled by any efforts to use
prenatal genetic testing to identify genetically ``normal'' or
``healthy'' children and terminate pregnancies that fail to
pass this test. Our responsibility as parents is to love and
nurture our children, whatever challenges they may face. As a
society, do we really want to live in a world where children
must pass genetic tests in order to be born?
I believe we have a moral and ethical responsibility to
maximize the likelihood that children with disabilities will be
welcomed into the world like other children, and that their
families will be supported in their efforts to help their
children thrive.
Science and medicine should be used to improve the quality
of people's lives, not to encourage parents to try to engineer
an advantage in the genetic lottery for their children.
If our experience with the prenatal screening and tests
currently being used for Down's syndrome and spina bifida is a
harbinger of what is to come, I'm very worried about how the
new genetic technologies will be used, moving forward. I
believe that God created a beautifully diverse human population
for a reason, and we should be humble and proceed with caution
as we develop tools that can be manipulated to threaten that
diversity.
Thank you, Senator, for the opportunity to testify and for
calling attention to this important topic.
[The prepared statement of Mrs. Sensenbrenner follows:]
Prepared Statement of Cheryl Sensenbrenner, Board Member,
American Association of People with Disabilities
Mr. Chairman, Ranking Member Breaux, and Members of the Senate
Commerce, Science and Transportation Subcommittee on Science,
Technology and Space:
Thank you for inviting me to testify on the implications of the new
prenatal genetic testing technologies for people with disabilities and
their families. I am honored to have this opportunity. My name is
Cheryl Sensenbrenner and I am a Board Member of the American
Association of People with Disabilities (AAPD), a national non-profit,
non-partisan membership organization promoting political and economic
empowerment for the more than 56 million disabled children and adults
in the U.S.
I am also here as a woman with a disability, and, probably most
importantly, as the proud sister of a woman with Down syndrome, Tara
Rae Warren. I am delighted that my sister, Tara, is able to be with us
today for this important hearing. Whereas my friend and colleague Andy
Imparato will approach today's topic from a public policy standpoint,
my comments today will be more personal.
Although we are certainly making progress in public attitudes,
there is still a strong tendency in American society to underestimate
the positive contributions that people with disabilities are capable of
making if given a chance. I have seen people continually underestimate
what my sister is capable of doing, and I have seen what can happen
when people believe in her and give her an opportunity to shine.
Because Tara's mental disability is physically recognized, she is
almost daily subjected to snide remarks, odd looks and put downs. Tara
has faced many obstacles with no fear and total perseverance. Through
her early education and with her family's support, Tara has been able
to support herself with various jobs. This financial independence has
been a great sense of pride for Tara. She has been able to pay for her
own car she drives and her car insurance. In the past few elections,
Tara, has been a non-partisan poll watcher in Wisconsin. Tara has
completed her high school education and taken a couple of college
courses. She has given speeches to students of special education on the
challenges of her disability. Tara would be most happy to answer any
questions you might have--once she stops blushing.
Although I don't often encounter the same degree of paternalism
that my sister has faced, I can tell you from my personal experience
living with a physical disability for all of my adult life that people
frequently underestimate or overlook my capacities as well. Many people
assume that my injuries occurred after my marriage to my husband,
Representative F. James Sensenbrenner, Jr. My husband, Jim, ``got me''
in a wheelchair, or at best on Canadian crutches. This has been a
lifelong journey since I was twenty-two years old. I can remember when
my father was the Attorney General of Wisconsin going to a bank and
sitting in the lobby waiting for my father to conduct some personal
business. I remember a bank executive looking at me and stating
``people like that belong on the park benches out front and not in our
lobby.'' I found it amazing that someone with a higher education would
still think with such a closed mind. I can also remember back when the
physically disabled were determined not qualified to serve on a jury. I
am curious to know whether they truly believed that I would be mentally
unfit due to my physical disability or if it was simply an issue of
handicap accessibility. Being a disabled person can be difficult, but
it is not impossible to deal with. On the positive side with the
support of my dear family and friends, only certain sports and pretty
shoes with heels remain unapproachable to me.
When I had my children, I didn't have to worry about prenatal
genetic testing because the science hadn't evolved to a point where
that kind of testing was widespread. I know that in recent years the
science and practice of prenatal genetic testing has grown so that now
it is very common for pregnant mothers to be offered screening tests to
determine the likelihood that their baby will be born with conditions
like Down syndrome and Spina Bifida.
I am concerned that expecting parents are being asked to consent to
tests without really understanding the pros and cons of participating
in this kind of testing. I am also even more concerned that expecting
parents are being given the positive results of prenatal diagnostic
tests for conditions like Down syndrome without getting good
information about what it is like to raise a child with Down syndrome,
or what supports and programs exist in the community for families with
disabled children.
When you couple the uninformed fears and concerns many parents are
likely to have when they receive this kind of a prenatal diagnosis with
the pressures they may perceive from their treating professionals,
family and friends to terminate the pregnancy, you have a recipe for
uninformed decision making that can dramatically reduce the number of
babies born with Down syndrome and other congenital disabilities. As
someone who can testify to the great joy and love that my sister has
brought to me and my family, I am saddened and disheartened to think
that the new genetic technologies would have this kind of impact.
As a parent, I am deeply troubled by any efforts to use prenatal
genetic testing to identify genetically ``normal'' or ``healthy''
children and terminate pregnancies that fail to pass this test. Our
responsibility as parents is to love and nurture our children, whatever
challenges they may face. As a society, do we really want to live in a
world where children must pass genetic tests in order to be born?
I believe we have a moral and ethical responsibility to maximize
the likelihood that children with disabilities will be welcomed into
the world like other children, and that their families will be
supported in their efforts to help their children thrive. Science and
medicine should be used to improve the quality of people's lives, not
to encourage parents to try to engineer an advantage in the genetic
lottery for their children.
If our experience with the prenatal screening and tests currently
being used for Down syndrome and Spina Bifida is a harbinger of what is
to come, I am very worried about how the new genetic technologies will
be used moving forward. I believe that God created a beautifully
diverse human population for a reason, and we should be humble and
proceed with caution as we develop tools that can be manipulated to
threaten that diversity.
Thank you for the opportunity to testify and for calling attention
to this important topic.
Senator Brownback. Thank you very much.
And I would note, as you told me earlier, that you've
testified here first before, on the House side, so I want that
to get back to your husband----
Mrs. Sensenbrenner. No, I haven't. I'm saying I'm waiting,
sir.
Senator Brownback. Oh. Well, we have taken this topic up
first, and I thank you for your testimony.
You made a statement there at the end about--that you're
afraid of the harbinger of what the testing for Down's syndrome
and spina bifida will be on other genetic testing. What can we
learn from our experience on testing, genetic testing, on spina
bifida and Down's syndrome, relative to the new sets of
testing?
Mrs. Sensenbrenner. Well, I don't know if I can
specifically answer your question. There are probably people
that can do--What I can--what I am--I'm concerned about is that
people--automatically, now, people are not given--
automatically, they're tested, and they don't--they're--they
see it as a closed door, and that this is horrible. They don't
understand that it's just a child that has something different,
and that you can deal with it.
I don't know--I don't quite understand how to answer your
question, Senator. All I wanted to make clear was that having a
child that has a congenital disability is nothing to--it's
something to look at as a challenge, not as the end of
opportunities for your parenthood.
Senator Brownback. Yes, as it has been in your family. It's
been a great gift of great joy.
Mrs. Sensenbrenner. Yes. Matter of fact, when I was first
hurt, we didn't always know if I would always be in the bed.
And Tari was born, and as she--when she was young, I spent a
lot of time with her, working with her. It's always best, if
you have Down's--as I understand it, Tari--to get your
education going a little early. And she functioned as my legs
and my body to get things for me as I was working with her. And
we got to be pretty close that way, didn't we, Sis?
Ms. Warren. Yes, we did.
Senator Brownback. Tari, welcome to the Committee. I'm
delighted that you're here.
Ms. Warren. Thank you, Senator.
Senator Brownback. You give speeches to educational groups
in the country. What do you tell them? What's the heart of your
message?
Ms. Warren. Well, the heart of the message is to tell the
student teachers that I've been talking to--is to accept the
people who have a disability and to help them when they are in
trouble, and to be sure that they don't get teased or--try to
be themselves in the class. They should mainstream them. I was
mainstreamed. I was mainstreamed in--I did graduate with honors
in 1989. I was mainstreamed through all my classes. And I did a
pretty good job, except for one. But, otherwise, I encountered
lots of people who weren't very nice to me, but I learned to
live with it. And I think that people who have a disability
like Down's syndrome should have--just to have, like, someone
to be there for them in case--if people get rude and
inappropriate to them in the middle of classes.
Senator Brownback. You know, the--if you took a vote here
in the Capitol of the most favorite employee in the whole
Senate side of the Capitol, I have a bet for who the winner
would be. And I am certain I would be right on this. And his
name is Jimmy. He operates the elevator on the Senate side.
He's a Down's syndrome person, as well. And he is the most
wonderful, kind, great--he gives me high fives and hugs like
nobody else does. I love it. And he's just--he brightens my day
in an incredible way. And I think of how much poorer we would
be, as a world, or as a Senate, in particular, without Jimmy.
And my guess is, Tara, for you, that--how much poorer people
around your world would be without you.
I really appreciate you, and your showing the rest of us
how to live. It's kind of you to do.
Ms. Warren. Thank you, Senator.
Senator Brownback. Mrs. Sensenbrenner, thanks for coming
and being an advocate on this cause. As I said stated at the
outset of the hearing, I don't think there has been another
hearing in the House or the Senate on this topic, and yet it is
on us as a topic, and we do have a set of tests that we've been
doing. And we're going into a season where we're going to be
able to test for hundreds of things.
Mrs. Sensenbrenner. I know.
Senator Brownback. And we really need to have a discussion,
as a country, about, ``OK, when--if you do these tests, now,
what does this mean?'' And let's not just say, ``OK, we have to
have the perfect child here.'' And having five children,
there's no such thing as a perfect child, and every one of them
are different. And that's the beauty of it. That's the real
beauty of it. We need this discussion, and I'm hopeful that you
can continue to have it with us, and that, Tara, you can
continue to prod us to have this discussion, in all of its
beauty and glory.
Ms. Warren. Thank you.
Senator Brownback. Thank you both for joining us here
today.
I want to call up the second panel. Dr. John Bruchalski--
he's a family practice practitioner in Virginia; Dr. Brian
Chicoine, Medical Director of the Adult Down Syndrom Center of
Advocate Lutheran General Hospital, in Park Ridge, Illinois;
Dr. Kathy Hudson, Director of Genetics and Public Policy
Center, Associate Professor of Bioethics, Department of
Pediatrics, Johns Hopkins University--boy, I hope you get that
all one business card----
Dr. Hudson. I do.
Senator Brownback.--Mr. Andrew J. Imparato, President and
CEO of the American Association of People with Disabilities;
and Mr. Andrew Kimbrell, Executive Director of the
International Center for Technology Assessment, Executive
Director for the Center for Food Safety, here in Washington,
D.C.
This is an expert panel, a practitioners panel, that we
wanted to talk about this same subject with this group, and I'm
delighted that each of you were willing to join us today.
We will run the time clock, if we can get it going here,
probably at five--we'll do it at 6 minutes. That's just a
guide; although, if you can stay with that--and then we'll
have--I'd like to have interaction and a dialogue afterwards,
if we can.
Let's take the presentations in the order that they were
introduced. Dr. Bruchalski--did I get that correct?
Dr. Bruchalski. Yes.
Senator Brownback. Thank you for joining us, and I look
forward to your testimony.
STATEMENT OF DR. JOHN BRUCHALSKI, BOARD CERTIFIED OBSTETRICIAN
AND GYNECOLOGIST
Dr. Bruchalski. Thank you for this opportunity. It is,
indeed, an honor to be on the same panel as Tara.
My name is John Bruchalski, and I'm a Board Certified
Obstetrician and Gynecologist practicing in Fairfax, Virginia.
I have practiced in the field of OB/GYN since 1987, which
includes my residency. And I am very thankful for this
opportunity to testify.
My career as a private practitioner has spanned the recent
developments in prenatal genetic testing for Down's syndrome,
spina bifida, and cystic fibrosis, and now cystic fibrosis at
the clinical level. I have literally spoken to thousands of
families about these diseases and these prenatal tests.
The emphasis of my testimony will be twofold--to show that
the data we use for counsel is more confusing than clarifying,
and, second, that the conversation generated may cause
irreparable damage in the parent-child bond, with implications
of how the family views individuals with disabilities, or,
worse, how they view those who have had abnormal testing, but
are completely normal human beings. More confusing than
clarifying.
We are speaking today about maternal screening tests for
conditions such as Down's syndrome. Screening tests are not
diagnostic tests; they are meant to be preliminary tests,
universally applied to those in low-risk populations, the
results of which determining who will be counseled to undergo
more accurate, but expensive and invasive--i.e., riskier--
diagnostics-grade testing.
In regard to Down's syndrome, the vast majority of mothers
who give birth to Down's syndrome are under the age of 35. And
so that these screening tests, such as the AFP or the triple
screen, have, by their nature, an inherently in-built high
false positive rate--the test is abnormal, but the subject may
be normal--because the thresholds for declaring a screening
test result positive is set to capture the most individuals who
truly have the condition, at the expense of including some--or,
in this case, many--who do not. It is in this expense that the
sloppiness of these tests is exposed and, ultimately, the
damage is done.
Parents are presented with these screening tests as a
common, indispensable, accurate, and normal part of the
prenatal evaluation. The results of these tests provide a
statistical threshold, risk estimate, or likelihood--one in
150, one in a thousand, one in 50--that the blood taken from
mom tells her the risk of--to her unborn child--her fetus has
of carrying that disease, above the risk that her age
predisposes her to, that the test--this is what the screening
test is all about. Many moms are unaware that this a screening
test, and not a diagnostic or definitive one. And even when
explained thoroughly, we walk away--they walk away with--they
walk away with other ideas of what we're trying to convey to
them; they're walking away with wrong ideas. For someone like
myself, who has had cancer, when someone says you have that,
you begin to not hear very well.
Many moms are unaware that this is a screening test, and
not a diagnostic or definitive one. Then the next step becomes
a procedure that aims to obtain tissue or fluid for definitive
diagnostic purposes, carrying a procedure-related pregnancy-
loss rate of something around one in 200. This is very sloppy
defensive medicine, as far as we're concerned. This data given
to parents lacks any diagnostic certainty concerning the health
or the genetic makeup of their unborn child. It's statistics.
Second, this attempt to mandate that all mothers have this
test done, since 97 percent of children with Down's syndrome
occur in families with no previous history of the syndrome, and
88 percent are born to women under 35 years of age, is an
attempt to prevent the wrongful birth legal outcome, or any
outcome which many feel should have serious consequences,
including legal liability for the clinician.
This universal application for the screening test for
Down's syndrome also lacks appropriate pre-test counsel, such
as meeting with the families who have had children with such
conditions. We attempt to do this with our patients. And after
explaining the poor accuracy of these tests, including the high
false positive, as well as false negative, rates and the need
for invasive testing to determine the true condition of the
baby--or the fetus, most women do not opt for this medical
screen. In fact, we have had many patients who have transferred
into our practice precisely because their prior obstetrical
practice placed guilt and pressure on them to have this test
that they truly did not want.
In reference to the present recommendation for universal
screening for cystic fibrosis, being an asymptomatic carrier
for the genetic mutation that causes CF is prevalent one in 25
to one in 30 in the United States, but this carries with it
some major pitfalls. The gene for CF is very large, and the
sheer number of mutations that are possible--over 900, to
date--make all at-risk pregnancies not able to be identified.
Therefore, the American College wants all OB/GYNs to offer, as
you had mentioned, to non-Jewish Caucasians and Ashkenazi Jews
this screening that only looks at 25 to 35 of the most common
mutations. This is up for yearly review because of the science
that's driving this.
This area of CF testing emphasizes the data currently with
the best of intentions, and training is confusing and not
clarifying for physicians or patients. With obvious lack of
clarity in this area for prenatal testing comes a subtle, yet
profound, undercutting of the unconditional parent-child bond.
Quote, ``I spend an enormous amount of my time talking with
mothers, trying to heal the damage that these tests do,'' one
of my partners exasperatedly told me of his frustration from
his last several practices that he's been involved with. Let's
say the screening test is positive. The parent naturally asks,
``Is my child okay? Is he or she normal?'' Even if the tissue
diagnosis comes back normal, these parents have not only been
anxious about the health of their unborn child, they have been
stripped of their joy about the pregnancy, because, seemingly,
no amount of postprocedural counseling can erase all the
anxiety in the minds and hearts of parents created by the
abnormal screening tests.
``There must have been something to it.'' That's a common
quote that we hear in our office. The anxiety and the lack of
joy translates into a stigma attached to the child for the
lifetime of the parent-child-family interaction. This stigma
that sometimes had to have caused this test to be abnormal
carries the life of the child with those parents. This is
irreparable damage done to the family bond.
Also, in doing the definitive diagnostic procedure, such as
amniocentesis and chorionic villus sampling, there is the very
real possibility, if the screening test gives us a false
positive, which encourages us to do the definitive test, and,
while doing this procedure, the membranes that harbor the child
rupture and a miscarriage occurs, or the chronic leakage of
amniotic fluid occurs, resulting in severe developmental damage
to the fetus, to the child, only to find out that the child
investigated by the prenatal genetic screening test was,
indeed, healthy. That risk has been documented to be somewhere
between one-half to 3 percent for the rupturing of the
membranes.
The loss of a healthy child due to a procedure done because
a screening test was believed to be more accurate than billed
causes a profound fracturing of the doctor-patient
relationship. I know this, because I have personally
experienced this issue in my own professional life.
So, in conclusion, the practical clinical application of
this prenatal genetic testing technology is fraught with non-
definitive relative risks. The unconditional love between
parent and child, and the joy that this manifests, is destroyed
with conditional, cautious stigmatization that lasts a
lifetime. Because of the emotional and physical trauma that the
Down's syndrome story has provided us, and the fact that I have
family members with Down's syndrome, I strongly advise that
this Committee continue to keep this conversation alive in
regarding to these technologies and the future technologies.
Thank you very much.
[The prepared statement of Dr. Bruchalski follows:]
Prepared Statement of Dr. John Bruchalski, Board Certified Obstetrician
and Gynecologist
My name is John Bruchalski and I am a Board Certified obstetrician
and gynecologist. I have practiced in my field since 1987, which
includes my residency, and I am thankful for this opportunity to
testify at this hearing on prenatal genetic testing technology:
science, policy and ethics. My career as a private practitioner has
spanned the recent developments in prenatal genetic testing for Down's
syndrome, Spina Bifida and now Cystic Fibrosis at the clinical level. I
have spoken to thousands of families about these diseases and these
prenatal tests. The emphasis of my testimony, will be twofold: to show
that the data we use for counseling is more confusing than clarifying
and, secondly, that the conversation generated may cause irreparable
damage in the parent child bond with implications of how that family
views individuals with disabilities, or worse, how they view those who
have had ``abnormal testing'' but are completely normal human beings.
More Confusing than Clarifying
We are speaking today about maternal SCREENING TESTS for conditions
such as Down's syndrome. Screening tests are not diagnostic tests. They
are meant to be preliminary tests, universally applied to those in low-
risk populations, the results of which determining who will be
counseled to undergo much more accurate, but expensive and invasive,
i.e., risky diagnostic-grade testing. Screening tests such as the AFP
or the Triple Screen have by their nature an inherently high inbuilt
high false positive rate, (test abnormal, but subject is normal),
because the threshold for declaring a screening test result positive is
set to capture the most individuals who truly have the condition at the
expense of including some, or in this case many, who do not. It is in
this expense that the sloppiness of these tests is exposed, and the
damage is done.
Parents are presented with these screening tests as a common,
indispensable, accurate, and normal part of the diagnostic evaluation
of the prenatal medical process. The results of these tests provide a
statistical threshold, risk estimate or likelihood (i.e., 1/150, 1/
7,000, 1/50, etc.), that the blood taken from the Mom, tells her the
risk to her unborn child, the foetus, has of carrying the disease that
the test is SCREENING for. Many Moms are unaware that this is a
screening test, and not a diagnostic, or definitive one. Then the next
step becomes a procedure that aims to obtain tissue or fluid for
definitive diagnostic purposes carrying a procedure related pregnancy
loss rate of 1/200. (1)
This is sloppy, defensive medicine. This data, given to parents
lacks any diagnostic certainty concerning the health or the genetic
makeup of their unborn child. Secondly, the attempt to mandate that all
mothers have this test done, since 97 percent of children with Down's
occur in families with no previous history of the syndrome (2), and 88
percent are born to women under 35 years of age, is an attempt to
prevent the ``wrongful birth'' legal outcome or any outcome which many
feel should have serious consequences including legal liability for the
clinician. This universal application of the screening tests for Down's
syndrome also lacks appropriate pre-test counsel such as meeting with
families who have children with this condition. We attempt to do this
with our patients, and after explaining the poor accuracy of this these
tests, including the high false positive as well as false negative
rates and the need for invasive testing to determine the true condition
of the baby, most women do not opt for this medical screen. In fact we
have many patients who transfer into our practice precisely because
their prior obstetrical practice placed guilt and pressure on them to
have this test that they truly did not want.
In reference to the present recommendation for universal screening
for cystic fibrosis asymptomatic carrier of the genetic mutation that
causes CF is prevalent (1/25 to 1/30) in the United States, and this
carries some major pitfalls. The gene is very large and the sheer
number of mutations that are possible, over 900 mutations described to
date, make all at risk pregnancies not able to be identified. Therefore
the American College of OB/GYN wants us ``to offer'' to all non-Jewish
Caucasians and Ashkenazi Jews this screen that only looks at 25 of the
most common mutations and this is up for yearly review. (3)
This area of CF testing emphasizes that the data currently with the
best of intentions and training is confusing, not clarifying for
physicians and patients. With obvious lack of clarity in this area of
prenatal testing, comes a subtle, yet profound undercutting of the
unconditional parent child bond.
Irreparable Damage to the Family
``I spend an enormous amount of time talking with mothers trying to
heal the damage that these test do,'' one of my partners exasperatedly
told me of his frustration with these tests. Let's say the screening
test is positive. The parents naturally ask, ``Is my child okay? Is he/
she normal?'' Even if the definitive tissue diagnosis returns normal,
these parents have not only been anxious about the health of their
unborn child, they have been stripped of their joy about the pregnancy
because seemingly no amount of post-procedural counseling can erase all
of the anxiety in the minds and hearts of parents created by an
abnormal screening test result. ``There must have been something to
it''. This anxiety and lack of joy translate into a stigma attached to
this child for the lifetime of the parent-child family interaction.
This stigma that something had to have caused this test to be abnormal
carries the life of the child with those parents. This is irreparable
damage done to the family bond.
Also in doing the definitive diagnostic procedure such as
amniocentesis and chorionic villus sampling, there is the very real
possibility that the screening test gives us a false positive result
which encourages us to do the definitive test, and while doing this
procedure the membranes rupture and a miscarriage occurs, or a chronic
leakage of amniotic fluid occurs, resulting in severe developmental
damage to the fetus, only to find out that the child investigated by
the prenatal genetic screening test was indeed healthy. The loss of a
healthy child due to a procedure done because a screening test was
believed to be more accurate than billed causes a profound fracturing
in the doctor patient relationship. I know, I have personal experience
in this regard.
Conclusion
The practical, clinical application of this prenatal genetic
testing technology is fraught with sloppy, non-definitive relative
risks. The unconditional love between parents and child, and the joy
that this manifests is destroyed with conditional, cautious,
stigmatization that last a lifetime. Because of the emotional and
physical trauma that the Down's syndrome story has provided us, and the
fact I have a cousin with Down's syndrome, I strongly advise this
committee to continued study of these technologies and their
implication for individuals with disabilities.
Bibliography
1. Prenatal Diagnosis of Fetal Chromosomal Abnormalities, ACOG
Practice Bulletin, Number 27, May 2001.
2. Adams MM, et.al., Down's syndrome. Recent Trends in the United
States. JAMA 1981; 246: 758-760.
3. Simpson, Joe Leigh, ``Genetic Counseling and Prenatal
Diagnosis,'' Obstetrics: Normal and Problem Pregnancies, 4th
edition, edited by Gabbe, SG, Niebyl, JR, and Simpson JL.,
Churchill Livingstone, New York, pp. 187-219.
Senator Brownback. Thank you. I look forward to our
question session when--we will have on that.
Dr. Chicoine? Did I get that correct?
Dr. Chicoine. Chicoine.
Senator Brownback. Chicoine, sorry. Delighted to have you
here. Thank you for coming in, and I appreciate your
willingness to testify.
STATEMENT OF BRIAN CHICOINE, MD,
MEDICAL DIRECTOR, ADULT DOWN SYNDROME CENTER,
ADVOCATE LUTHERAN GENERAL HOSPITAL
Dr. Chicoine. Chairman Brownback, thank you very much for
giving us the opportunity to testify about prenatal genetic
technology testing.
I am Brian Chicoine, the Medical Director of the Adult Down
Syndrome Center of Advocate Lutheran General Hospital in Park
Ridge, Illinois. I'd like to share with you my perspective on
genetic counseling and information provided to families
prenatally, and how it relates to my work in addressing the
health needs of adults with Down's syndrome.
I'd like to submit a more comprehensive written record for
the--or statement for the record, as well.
Senator Brownback. It will be in the record in full.
Dr. Chicoine. Thank you.
If a literature search is conducting--researching Down's
syndrome, one finds that the majority of citations deal with
prenatal diagnoses. The focus is mostly on screening blood
tests, characteristics or findings on ultrasounds, and other
methods used to diagnose Down's syndrome prenatally. A small
number of citations can be found on optimizing care for people
with Down's syndrome. Little or no research can be found on
prenatal counseling, particularly with regards to the issue of
providing information about adults with Down's syndrome.
Healthcare professionals need to be sensitive to the needs
of families for genetic counseling that is both supportive and
balanced. Researchers should examine the individual experience
of each family in order to determine how best to accomplish
this goal.
At the Adult Down Syndrome Center of Advocate Lutheran
General Hospital, we work to provide the best information and
care for adults living with Down's syndrome. The Adult Down
Syndrome Center is a unique collaboration between the National
Association for Down Syndrome, Advocate Medical Group, and
Advocate Lutheran General Hospital. The center opened in
January 1992, at the request of the National Association of
Down Syndrome, which is the parent group that serves the
Chicago Metropolitan Area. These parents identified a need to
provide high quality health and psychosocial services for their
adult children.
We have grown to a full-time center, and now serve more
than 2,500 adults with Down's syndrome. In addition, we have
published numerous articles and have presented many times at
educational forums, including at the World Health Organization
and the National Down Syndrome Society.
Down's Syndrome is the most common chromosomal cause of
mental retardation. The incidence is approximately one out of
800 to one out of a thousand births. It affects all races,
cultures, and nationalities. Generally, the risk of recurrence
of Down's syndrome in a future pregnancy is 1 percent greater
than the baseline, which was just discussed. And the baseline--
again, the baseline risk for having a child with Down's
syndrome increases with maternal age.
Blood testing, the maternal triple screening, which was
discussed, is used as part of the screening process,
particularly in younger women; and amniocentesis or chorionic
villus sampling is required to make a definitive prenatal
diagnosis, and are generally offered to women over 35 or those
with a positive blood test.
It is difficult for me to paint an accurate picture of
adults living with Down's syndrome. Trying to sum up a
wonderfully diverse group of people is quite a challenge if
you've not met them personally. On average, adults with Down's
syndrome function in the mild to moderate range of mental
retardation, but the range runs essentially the full gamut.
However, increased level of function is clearly an area that is
expected to improve with early intervention and other
opportunities.
I tell young families that over time we may see what I call
two syndromes. Our older patients often had little education
and inadequate healthcare as children, and few opportunities as
they reached adulthood. The younger people with Down's syndrome
not only have better education, healthcare, and opportunities,
but there are increased expectations for their success, and, as
a result of that, we are seeing greater achievement and
independence, as certainly was evidenced here a short time ago.
For years, families were told that their children with
Down's syndrome would not survive into adulthood. This advice
guided the family's expectations for their sons or daughters,
it has caused families to lower their expectations,
inadequately prepare for the full life span of their child, and
left them unprepared to deal with health and other issues of
their adult child.
During this time, the median age of death for a person with
Down's syndrome rose from 25 years, in 1983, to 49 years, in
1997, and the life expectancy of a person with Down's syndrome
is now 56 years.
Misinformation has been given to families prenatally.
Families have shared with me some of their stories about the
types of information they received when they were pregnant with
a child with Down's syndrome. Some of the information was
correct, but some was incorrect, and some of the information
overemphasizes the negative.
Some of the information provided during counseling is
correct, such as: adults with Down's syndrome have a greater
incidence of certain health conditions, such as diabetes
mellitus, obesity, osteoporosis, celiac disease, and others.
And some of the information presented is incorrect or
misleading. For example, families are often told that all
people with Down's syndrome develop Alzheimer's disease at a
young age. While it has been demonstrated that people with
Down's syndrome over the age of 35 or 40 do develop the
microscopic changes seen in Alzheimer's disease, the incidence
of clinical Alzheimer's disease may actually be similar to the
incidence seen in the general population.
Unfortunately, many unproven--or much unproven information
has been recited to families as fact, and has caused a great
deal of confusion and concern. In addition, usually there's
information about Down's syndrome that is not shared. The
incidence of most types of cancer is lower in people with
Down's syndrome. Hypertension is quite rare. And coronary
artery disease, the leading killer of people without Down's
syndrome, is almost nonexistent in adults with Down's syndrome.
Beyond what is said is the context of how the information
is communicated. It is important to present a balanced picture
of the strengths and challenges presented by these very special
children and adults. There are a number of health conditions
that are more common in adults with Down's syndrome. With
improved healthcare and social and education and recreational
opportunities, many of these problems are not inevitable, and
the incidence can be reduced.
There is no question that adults with Down's syndrome face
challenges. It is important that adults with Down's syndrome,
their families, and healthcare providers have an appropriate
and accurate information to help them work through these
challenges. And it is important that this information be
provided throughout the life span of a person with Down's
syndrome.
I strongly recommend families who have a newborn with
Down's syndrome, or are pregnant with a child with Down's
syndrome, that they meet with other families who have a child
with Down's syndrome. There is some research that is available
on the experience of families with regards to how they were
told that their newborn has Down's syndrome. The majority were
disappointed with how the medical professionals told them that
and how this information was provided. Referral to a support
group did improve the experience.
In conclusion, people with Down's syndrome are living
longer, living more independently, and reaching for new
heights. With good healthcare, opportunities for achieving
their potentials, and more realistic societal expectations,
only greater accomplishments can be expected. Many of the
people providing prenatal care or prenatal information about
Down's syndrome seem to know little about adults with Down's
syndrome. There is little research that has studied how
information on children and adults with Down's syndrome is
being provided to families in prenatal counseling. Families
have shared with me many of their stories, and these stories,
as well as the studies, suggest that there is much to learn.
Healthcare professionals need to be sensitive to needs of
families for genetic counseling that is supportive and
balanced. And researchers should examine lived experiences of
families in order to determine how best to accomplish this
goal.
Mr. Chairman, thank you, again, for this opportunity to
speak with you.
[The prepared statement of Dr. Chicoine follows:]
Prepared Statement of Brian Chicoine, MD, Medical Director, Adult Down
Syndrome Center, Advocate Lutheran General Hospital
Chairman Brownback and distinguished members of the Senate Commerce
Subcommittee on Science, Technology and Space, I thank you for giving
me the opportunity to testify about Prenatal Genetic Technology
Testing. I am Brian Chicoine, MD, Medical Director of the Adult Down
Syndrome Center of Advocate Lutheran General Hospital in Park Ridge,
Illinois. I would like to share with you my perspective on genetic
counseling and information provided to families prenatally and how it
relates to my work in addressing the health needs of adults with Down
syndrome. I would like submit a more comprehensive written statement
for the record.
If a literature search is conducted researching ``Down syndrome,''
one finds that the majority of citations deal with prenatal diagnoses.
The focus is mostly on screening blood tests, characteristics or
findings on ultrasounds, and other methods used to diagnose Down
syndrome prenatally. A smaller number of citations can be found on
optimizing care for people with Down syndrome. Little or no research
can be found on prenatal counseling, particularly with regard to the
issue of providing information about adults with Down syndrome. Health
care professionals need to be sensitive to the needs of families for
genetic counseling that is both supportive and balanced. Researchers
should examine the individual experience of each family in order to
determine how best to accomplish this goal. At the Adult Down Syndrome
Center at Advocate Lutheran General Hospital, we work to provide the
best information and care for adults living with Down syndrome.
Adult Down Syndrome Center at Lutheran General Hospital
The Adult Down Syndrome Center is a unique collaboration among the
National Association for Down Syndrome, Advocate Medical Group, and
Advocate Lutheran General Hospital. The Center opened in January 1992
at the request of the National Association for Down Syndrome, the
parent group that serves the Chicago metropolitan area. These parents
identified a need to provide high quality health and psychosocial
services to their adult children.
We have grown to a full-time Center and now serve more than 2,500
adults with Down syndrome. In addition, we have published numerous
articles and have presented many times at educational forums, including
the World Health Organization and the National Down Syndrome Society.
Down Syndrome
Down syndrome is the most common chromosomal cause of mental
retardation. The incidence is approximately 1 out of 800 to 1,000
births. It affects all races, cultures, and nationalities. Of the
people with Down syndrome, 95 percent have an extra chromosome 21 and
the other 5 percent have partial triplication of the 21st chromosome.
Generally, the risk of recurrence of Down syndrome in future
pregnancies is 1 percent greater than the baseline risk.
The baseline risk for having a child with Down syndrome increases
with maternal age. Blood testing (maternal triple screening) is used as
part of a screening process, particularly in younger women. This
detects 60 percent of trisomy 21 pregnancies with a 5 percent false
positive rate. Amniocentesis or chorionic villus sampling are required
to make a definite prenatal diagnosis and are generally offered to
women over 35 years of age and those with a positive blood test.
It is difficult for me to paint an accurate picture of adults
living with Down syndrome. Trying to sum up a wonderfully diverse group
of people is quite a challenge if you have not met them personally. On
average, adults with Down syndrome function in the mild to moderate
range of mental retardation, but the range runs essentially the full
gamut. However, increased level of function is clearly an area that is
expected to improve with early intervention and other opportunities. I
tell young families that over time we may see ``two syndromes''. Our
older patients often had little education and inadequate health care as
children and few opportunities as they reached adulthood. The younger
people with Down syndrome not only have better education, health care,
and opportunities but there are increased expectations for their
success. We are seeing greater achievement and independence.
Information and Counseling about Down Syndrome
For years families were told that their child with Down syndrome
would not survive into adulthood. This advice guided the families'
expectations for their sons and daughters. It has caused families to
lower their expectations, inadequately prepare for the full life span
of their child, and left them unprepared to deal with health and other
issues of their adult child. During this time, the median age of death
of a person with Down syndrome rose from 25 years in 1983, to 49 years
in 1997. The life expectancy of a person with Down syndrome is now 56
years. However, families have not been getting accurate information.
Misinformation has also been given to families prenatally. Families
have shared with me some of their stories about the types of
information they received when they were pregnant with a child with
Down syndrome. Some of the information is correct but some is incorrect
and the information often overemphasizes the negative.
Some of the information provided during counseling is correct.
Adults with Down syndrome have a greater incidence of certain health
conditions such as diabetes mellitus, obesity, osteoporosis, celiac
disease, sleep apnea, hypothyroidism, atlantoaxial instability and
other conditions.
Some of the information presented is incorrect or misleading. For
example, families are often told that all people with Down syndrome
develop Alzheimer's disease at a young age. It has been demonstrated
that people with Down syndrome over the age of 35 or 40 develop the
microscopic changes that are seen in Alzheimer's disease. However, the
incidence of clinical Alzheimer's disease does not appear to be
universal and may actually mirror the incidence seen in the general
population, albeit on average 20 years earlier. There is much to be
learned about Alzheimer's disease in people with Down syndrome.
Unfortunately, much unproven information has been recited to families
as fact and has caused a great deal of confusion and concern.
In addition, usually there is information about Down syndrome that
is not shared. The incidence of most types of cancer is lower in people
with Down syndrome. Hypertension is quite rare. Coronary artery
disease, the leading killer of people without Down syndrome, is almost
nonexistent in adults with Down syndrome. Asthma also seems to be less
common in adults with Down syndrome.
Beyond what is said, it is the context or how the information is
communicated. If every parent were painted a picture of only the
negative possibilities for their expected child, perhaps no one would
give birth to a child. It is important to present a balanced picture of
the strengths and challenges presented by these very special children.
There are a number of health conditions that are more common in
adults with Down syndrome. With improved health care and social,
educational, and recreational opportunities, many of these problems are
not inevitable and the incidence may be reduced. Obesity is a good
example. It has been assumed that obesity was inevitable in adults with
Down syndrome because of a slower basal metabolic rate. Research now
shows that this is not true and the effects of healthier nutrition and
an active lifestyle are now being investigated. One disease that is
more common in adults with Down syndrome that would be expected to
decrease with improved nutritional status and exercise and recreational
opportunities is diabetes mellitus.
There is no question that adults with Down syndrome face
challenges. It is important that adults with Down syndrome, their
families and health care providers have appropriate and accurate
information to help them work through these challenges. It is important
that the information be provided throughout the lifespan of a person
with Down syndrome.
I strongly recommend families who have a newborn with Down syndrome
or are pregnant with a child with Down syndrome meet with other
families who have a child with Down syndrome. There is some research
that is available on the experience of families with regards to how
they were told their newborn has Down syndrome. The majority were
disappointed with how they were told or the information that was
provided. Referral to a support group improved the experience.
Conclusion
People with Down syndrome are living longer, living more
independently, and reaching for new heights. With good health care,
opportunities for achieving their potentials and more realistic
societal expectations, only greater accomplishments can be expected.
Many of the people providing prenatal information about Down
syndrome seem to know little about adults with Down syndrome. There is
little research that has studied how information on children and adults
with Down syndrome is being provided to families in prenatal
counseling. Families have shared with me many of their stories and
these studies suggest that there is much to learn. Healthcare
professionals need to be sensitive to the needs of families for genetic
counseling that is supportive and balanced. Researchers should examine
the lived experiences of families in order to determine how best to
accomplish this goal.
This concludes my remarks. Mr. Chairman, thank you again the
opportunity to speak about these important issues. I would be happy to
answer any questions you may have.
Senator Brownback. Thank you, Dr. Chicoine. And I was just
sitting here thinking, myself, about the joy that I've met--
that I've had of people that I know with Down's syndrome. And
when you mentioned that about hypertension, I think, yes, you
know, Jimmy drops my hypertension----
[Laughter.]
Senator Brownback.--whenever I see him. I don't know if
there's any way to quantify or measure joy, but I--there's
certainly a large quantity that's there.
Thank you.
Dr. Hudson, thank you for joining us today.
STATEMENT OF KATHY HUDSON, Ph.D., DIRECTOR, GENETICS AND PUBLIC
POLICY CENTER, BERMAN BIOETHICS
INSTITUTE AND INSTITUTE OF GENETIC MEDICINE, JOHNS HOPKINS
UNIVERSITY
Dr. Hudson. Mr. Chairman, good afternoon, and thank you for
inviting me to testify on the science, policy, and ethics of
prenatal genetic testing.
My name is Kathy Hudson. I'm the Director of the Genetics
and Public Policy Center at Johns Hopkins University. The
center was created by a grant from the Pew Charitable Trusts,
and our mission is to provide objective information and
analysis on genetic technologies and genetic policies. The
center doesn't advocate for or against any technology, or for
or against any policy outcome, but, rather, we help to provide
information and analysis and policy options that are useful for
public conversation and for decisionmakers as they consider
these issues.
Over the past two years, the center has been investigating
reproductive genetic testing, and we are about to issue two
reports. The first, ``Reproductive Genetic Testing, Issues and
Options for Policymakers,'' presents a range of policy options
that consider the potential effects, both good and bad, of
different policy choices. Our second report, ``Reproductive
Genetic Testing, What America Thinks,'' presents the results of
our in-depth and ambitious effort to assess what the public
knows, thinks, and feels about prenatal genetic testing. It
includes the largest survey of Americans' attitudes yet, as
well as a very large-scale effort to engage the American public
in a conversation--in a dialogue, as you mentioned--about these
technologies.
In the next few minutes, I'd like to make five brief
points.
First, genetic tests give information, information that, in
the reproductive context, can provide great reassurance or
precipitate a decision. I want to emphasize that the decision
to have a genetic test, to get the information, and the
decision about what to do with the information raise separate,
though interrelated, issues.
Second, I'd like to emphasize the importance of preserving
the right to know and the right not to know genetic
information. The philosophy of those providing reproductive
genetic services is non-directiveness. Simply put, that means
that the implications of these decisions are so profound and so
personal that the decision of whether or not to have prenatal
genetic testing, and what to do based on the results, must
reside with the prospective parents. And, indeed, the majority
of Americans agree with this approach.
Third, I'd like to address the issue of test accuracy and
quality of care. The decisions made based on prenatal genetic
test results are weighty. And, thus, the accuracy and
reliability of those tests are of paramount importance. While
the prenatal tests that are in general, routine use today are
generally of high quality, there's no government guarantee.
There is no government review of the Food--by the Food and Drug
Administration, or any other Federal agency, of genetic tests
before they are marketed, and there are no proficiency
requirements under the Clinical Laboratory Improvement
Amendment for Molecular Genetic Testing, making it difficult to
evaluate whether laboratories are performing the tests well.
One possibility is to increase Federal oversight to ensure that
genetic tests are accurate and safe.
I'd also like to just briefly mention that our report
addressed many of the issues that have been raised here about
the quality of care and the nature of counseling and the
information, and how to enhance the quality of genetic
counseling in the reproductive context.
The fourth issue I'd like to raise is whether we, as a
society, need to draw a line delineating what tests are
appropriate in the reproductive context and those that are not.
There are many different genetic tests available, ranging--
those for fatal childhood conditions--such as Trisomy 13, or
Tay Sachs--serious disorders, risk of adult onset disorders,
and, of course, tests for sex.
Some have raised the specter, even, that we will, 1 day, be
able to test for and select socially desirable characteristics.
There is considerable debate within our society about what the
ethically appropriate uses are for genetic testing in the
reproductive context. American support for reproductive genetic
testing depends heavily on their intended use. A majority of
the general public approves of genetic testing, in the prenatal
context, for a fatal childhood disease, while a similar
majority disapproves of that use for traits unrelated to
health. So at the extremes, there appears to be some general
agreement about the appropriateness, or not, of prenatal
genetic tests, but that doesn't address who decides.
And that brings me to my final point. In closing, I'd like
to share with you some insights into what the American public
thinks is the appropriate role of the government in overseeing
the development and use of reproductive testing.
While there is a remarkable diversity of views, most
Americans in our surveys have said that the government should
not regulate prenatal genetic testing based on ethics or
morality. And a majority, 63 percent, feel that the government
should ensure the quality and accuracy of prenatal genetic
tests. Thus, the American public expects that the government
will make sure that when they choose to have a prenatal genetic
test, the results are accurate.
Thank you.
[The prepared statement of Dr. Hudson follows:]
Prepared Statement of Kathy Hudson, Ph.D., Director, Genetics and
Public Policy Center, Berman Bioethics Institute and Institute of
Genetic
Medicine, Johns Hopkins University
Mr. Chairman and members of the Subcommittee, thank you for
inviting me to be with you today to discuss the science, ethics, and
policy of prenatal genetic testing.
My name is Kathy Hudson and I am the Director of the Genetics and
Public Policy Center and Associate Professor in the Berman Bioethics
Institute and in the Institute of Genetic Medicine at Johns Hopkins
University. Established with a grant from The Pew Charitable Trusts,
the mission of the Genetics and Public Policy Center is to provide
independent and objective information and analysis on genetic
technologies and genetic policies. We hope our work provides useful
tools for decision makers in both the private and public sectors as
they consider and respond to the challenges and opportunities that
arise from scientific advances in human genetics.
Genetic testing is undergoing tremendous changes. Scientists are
identifying disease-causing mutations in humans at a remarkable pace
and developing tests to detect them. There are over 1,000 genetic tests
available or in development, all of which could potentially be used in
prenatal genetic testing. The growing availability and use of genetic
testing in the reproductive context presents a host of complicated
social, legal and ethical issues. I applaud this Committee for its
foresight in taking up this issue and welcome the opportunity to share
with you the results of the Center's work and experience in this arena.
The Genetics and Public Policy Center has spent the past two years
investigating reproductive genetic testing, which includes prenatal
genetic testing, the topic of today's hearing, as well as carrier
testing and preimplantation genetic diagnosis. We are about to issue
two reports on the topic. The first, Reproductive Genetic Testing:
Issues and Options for Policymakers, aims to help focus and facilitate
the discussion about reproductive genetic testing by outlining key
scientific and medical facts, considering ethical and social
implications, and assessing both current and potential oversight for
the development and use of reproductive genetic tests. It presents a
range of policy options supported by expert analysis that consider the
potential effects, good and bad, of distinctly different policy
directions.
Our second report, Reproductive Genetic Testing: What America
Thinks, presents the results from our in-depth effort to understand
what the public knows, thinks and feels about genetic technologies. We
undertook this effort so that policy leaders and other decision makers
would have more nuanced and sophisticated information about public's
attitudes towards these technologies than has previously been available
to-date. This effort is the largest and most ambitious public opinion
work to-date on this issue. We have surveyed over 6,000 Americans,
conducted focus groups, and interviewed hundreds of individuals who
have had personal or professional experience with these technologies.
Recognizing that one of the drawbacks to both qualitative and
quantitative public opinion research is that individuals are asked to
comment on complex scientific and ethical issues which they may have
had little prior opportunity to consider, we conducted an extensive
public engagement activity this summer to obtain more informed,
reflective opinions from the general public. Over 500 citizens in six
cities across the U.S. (Sacramento, CA; Seattle, WA; Kalamazoo, MI;
Fort Worth, TX; New York City, NY; and Nashville, TN) and over 100
citizens on-line took part in The Genetic Town Hall: Making Every Voice
Count. Participants were provided with background information about the
technology and issues, heard contrasting viewpoints from ``the
experts'', and engaged in discussion with their fellow citizens about
the issues of concern to them.
The Center does not advocate for or against these technologies or
for a particular policy outcome. Rather we believe that policy makers
should have access to objective analysis, comprehensive information
about what the public hopes for and fears from these technologies, and
robust policy options to guide the development and use of reproductive
genetic testing.
Scientific Background
Genetic testing is the laboratory analysis of DNA, RNA, or
chromosomes. Testing can also involve analysis of proteins or
metabolites that are the products of genes. Genetic testing is done to
predict risk of disease, screen newborns for disease, identify carriers
of genetic disease, establish prenatal or clinical diagnoses or
prognoses and direct clinical care. Testing can be done using many
different biological samples, including blood, amniotic fluid (from
which fetal cells are obtained) or individual embryonic cells.
Two forms of analysis are possible. Cytogenetic analysis is used to
detect abnormalities in chromosomal number and/or structure. Molecular
genetic testing examines the DNA sequence of individual genes.
In general, prenatal screening includes those tests and procedures
used to assess fetal risk for an abnormality, including genetic
disorders. It does not provide a definitive diagnosis of a genetic
abnormality but indicates whether diagnostic tests are warranted. The
advantage of prenatal screening is that a normal result provides
earlier reassurance and an abnormal result allows the option of further
diagnostic tests.
Prenatal genetic testing (or prenatal genetic diagnosis) is genetic
testing of fetal cells obtained through procedures such as
amniocentesis and CVS. Prenatal genetic testing of a fetus requires two
steps: an invasive procedure (amniocentesis or CVS) to obtain fetal
genetic material and an analysis of the material to identify genetic
abnormalities or characteristics. Fetuses may be at increased risk for
genetic abnormalities because of the mother's age (35 or greater at
delivery), because the parents already have a child or other family
member with a genetic condition, because one parent has a balanced
chromosome rearrangement or because prenatal screening or carrier
testing indicates an increased risk.
Amniocentesis is usually performed in the second trimester of
pregnancy, at approximately 15-20 weeks gestation. A small amount of
amniotic fluid is removed from the sac that holds the developing fetus.
The fluid contains fetal cells that provide the material for genetic
analysis. Amniocentesis is generally considered a relatively simple and
safe procedure when performed by an experienced physician. Although
miscarriage after amniocentesis is infrequent (one in 200-400 cases),
it is a major reason the procedure is not routinely offered to all
women. Infection and leakage of amniotic fluid are other rare
complications of amniocentesis.
Chorionic villus sampling (CVS) is an alternative to amniocentesis,
and can be performed during the first trimester of pregnancy. Fetal
cells are obtained through biopsy of the chorionic villi--the cells
that will become the placenta. CVS is generally done at 10-13 weeks
gestation. Fewer physicians do CVS than amniocentesis, and as a result,
it is not available in all areas. The risk of miscarriage after CVS is
approximately 1 in 100, as compared with the 1/200-400 risk following
amniocentesis. CVS can be used to determine all disorders that can be
diagnosed by amniocentesis except the presence of neural tube defects,
since CVS does not include analysis of amniotic fluid alpha-
fetoprotein.
Prenatal Genetic Testing: Points to Consider
With that background in mind, I would like to make five main points
about prenatal genetic testing.
1. Information and its use
Genetic tests give information--information that, in the
reproductive context, can provide great reassurance or precipitate a
decision. Before pregnancy, prospective parents may learn through
carrier testing whether or not they are at risk of having a child with
a genetic disease and may have to decide whether or not to try to have
a baby. During pregnancy, prenatal genetic testing can rule out or
diagnose a genetic disease in utero. When a genetic anomaly is
identified, prospective parents make the difficult decision of whether
to continue a pregnancy, or not. There are a host of issues related to
prenatal genetic testing. Some of the issues relate to the information
obtained from the testing, others relate to the profound decisions that
prospective parents make based on the results. But I want to emphasize
that the decision to have a genetic test--to get information--and the
decision about what to do with the information, are two separate, but
interrelated issues.
People differ in their desire to obtain information about the
future. Since most genetic tests show no genetic problems, many find
the information reassuring. Others want the information in order to
have the opportunity to prepare emotionally, financially, and medically
for the birth of an affected child. For these individuals, knowing as
much as possible about the health of the fetus, as early in the
pregnancy as possible, is of primary interest. Others, however, prefer
to decline testing and welcome the child first, and then address any
health problems the child may have. For them, prenatal testing may seem
intrusive and unnecessarily worrisome. For couples who would consider
abortion in case of a serious genetic condition, information about the
condition and the prognosis helps them make the decision whether or not
to terminate the pregnancy.
There are probably as many reasons to undergo prenatal testing--or
to refuse it--as there are parents. Whether someone will ultimately
accept or decline testing, and what course of action they will take
based on the information testing provides, is impossible to predict.
But as this Committee considers whether prenatal genetic testing is in
need of Congressional attention, I would urge you to treat the
information and the decision about what to do with the information as
separate matters.
2. Preserving the right to know--and not to know
The philosophy of those providing, reproductive genetic testing is
``non-directive'' genetic counseling. Simply put, this means that,
because the implications of these decisions are so profound and so
personal, the decision whether or not to have prenatal genetic testing,
and what to do with the test results, must reside with the prospective
parents. Indeed there is strong support among Americans for this
approach. A majority of Americans (64 percent) agree with the statement
\1\ ``We ought to let people decide for themselves when it is
appropriate to use reproductive genetic technologies because the
consequences are so personal.'' Although most health care providers
practice non-directive counseling in providing information about the
risks and benefits of testing and the choices that may be faced
depending on results, some observers have raised the concern that
prospective parents may feel pressured to agree to prenatal genetic
testing--pressure from their health care provider or from society at
large.
---------------------------------------------------------------------------
\1\ From Genetics & Public Policy Center 2004 Survey of 4,834
Americans.
---------------------------------------------------------------------------
Some fear that as testing becomes available for an increasing array
of inherited diseases and conditions, couples will face growing medical
and societal pressure to use all available technology--on the theory,
perhaps, that if it is knowable, it should be known. Fear of
liability--that they could be charged with failing to consider all
potential genetic problems--could drive providers to seek as much
information as genetic testing can provide. And as screening and
testing become earlier and capable of detecting a broader range of
conditions, the concern is that society will see reproductive testing
as the ``right'' and ``responsible'' thing to do. Some believe that
individuals will face growing medical and societal pressure to avoid
the birth of a child that has not ``passed'' all the requisite genetic
tests. On the other hand, some have argued that the more widespread
genetic testing becomes, and the more each individual knows about his
or her unique genetic makeup, the more society will be tolerant of
human differences. Rather than expecting each fetus to meet some
definition of genetically ``normal,'' the knowledge that no individual
is a ``perfect specimen'' may lead to greater acceptance of every
individual and less pressure to use all available technology to have a
``perfect'' child.
Our policy report addresses these issues. Clearly, attention should
be paid to preserving the rights of prospective parents not to use
prenatal genetic testing. This can be accomplished by improving the
counseling and access to information couples receive. Currently,
information about prenatal testing is conveyed in a variety of settings
and contexts. Sometimes it is a physician who discusses prenatal
testing with the patient, sometimes a nurse or midwife and sometimes a
patient is referred to a genetic counselor. Providers have varying
levels of knowledge and comfort discussing these issues, and often very
little time in which to cover all of the information adequately. Thus,
patients may end up making decisions based on incomplete or inaccurate
information. Some may proceed with testing without fully considering
the decisions they may have to make depending on the results of the
tests. Health care providers may present these tests as routine, just
like all the other tests one gets during pregnancy, which may explain
why patients sometimes report feeling pressured to agree to testing.
Enhancing the genetic literacy of providers or providing better access
to genetic counseling could help alleviate these concerns.
If a genetic condition is found during prenatal genetic testing,
careful attention to how test results are conveyed and ensuring parents
have access to the complete clinical picture can assist families in
making informed decisions. Some disability advocates say that providers
who discuss prenatal screening and testing describe conditions in the
most extreme clinical terms and assume that parents will want to
terminate an affected fetus. They believe that providers are
predisposed to counsel in favor of that decision, without giving
sufficient context to the prospective parents about what it would
actually be like to raise a child with the particular disorder. One
direct approach is to enhance the counseling available to parents by
making sure that genetic counseling includes access to information from
people living with genetic diseases and their families 'so that
prospective parents may better understand the reality of having a child
with the disease. Patient advocacy organizations working on behalf of
people with the condition could work with providers to facilitate such
interactions.
Importantly, a more direct or holistic approach would be to ensure
that society continues to support all prospective parents, including
those who make the decision not to test, or not to end a pregnancy and
that there continues to be a range of legal protections and support for
people with disabilities and their families.
3. Ensuring test accuracy and quality care
The decisions made on the basis of prenatal genetic tests are
weighty--if a prospective parent is going to decide whether or not to
continue a pregnancy on the basis of a test result, the accuracy and
reliability of the test is of utmost importance. The prenatal genetic
tests routinely used have low false positive and false negative rates
and are of generally high quality. But, right now government oversight
of genetic testing is patchy at best. There are at least two issues
here. The first is to make sure that a test is clinically valid before
it goes to market. The second is to ensure that laboratories are
performing the tests correctly so that the results are reliable. More
attention needs to be paid to the role of Federal agencies in making
sure that genetic tests being used by laboratories are accurate and
reliable.
In our policy report we provide a detailed analysis of the current
regulatory environment for reproductive genetic testing. Government
oversight in this area is limited and fragmented. There is no
government review of tests by the Food and Drug Administration (FDA) or
any other Federal agency before they are marketed. In addition,
although laboratories performing prenatal genetic testing are regulated
by the Centers for Medicare and Medicaid Services (CMS) through the
Clinical Laboratory Improvement Amendments of 1988 (CLIA), there are no
specific requirements under CLIA to show proficiency in molecular
genetic testing, making it difficult to evaluate laboratory performance
of genetic tests. Interestingly, in our 2002 survey, we found that only
30 percent of respondents knew that the Federal Government does not
review or approve reproductive genetic tests before they go on the
market.
One possibility is to increase Federal oversight of genetic testing
to ensure it is accurate and safe. FDA and CMS may have the authority
currently to expand their role. In addition, Congress could pass
legislation delegating additional authority to these agencies to ensure
that prenatal genetic testing is done right.
Although professional groups have issued guidelines for providers
for the appropriate use of some genetic tests, there are currently only
a handful of guidelines for a genetic testing compared to the large
number of genetic tests available. The number of genetic tests
available is rapidly increasing, and there is no technological barrier
to using them in prenatal genetic testing.
In the absence of government regulation, professional self-
regulation is often a valuable tool. But the sheer number of tests and
the speed with which they are developing, means that professional
societies such as American College of Obstetricians and Gynecologists
and the American College of Medical Genetics are hard pressed to keep
up. In our policy report, we propose several options to address the
need for more professional guidelines in the absence of more robust
Federal oversight. One possibility would be that Federal funding could
be made available through the agencies of the Department of Health and
Human Services to help facilitate guideline development.
As mentioned previously, another approach to improving care is to
improve the information that patients have. The quality of patient care
would be enhanced if health providers were more knowledgeable about
testing and prospective parents had all the information and counseling
they needed to understand the choices they are making and the
implications of those choices. Perhaps most importantly, counseling,
screening and testing needs to be offered when parents are able to make
the best use of the information. Most experts agree that genetic risk
information and reproductive genetic testing options should be
discussed with prospective parents before pregnancy during routine
visits. The health care provider should take a family history and
assess genetic risk based on family history, maternal age and ethnic
background and discuss carrier testing options. Carrier testing done
before pregnancy allows prospective parents to know their risks without
having to make a decision to terminate a pregnancy.
4. For what purpose
There are many different genetic tests available, and questions
abound as to whether, and how to regulate what people are testing for.
There are tests for fatal childhood conditions such as Trisomy 13 or
Tay Sachs disease. There are tests for serious disorders including Down
syndrome, cystic fibrosis, and sickle cell anemia. Tests are also
available for adult-onset disorders, such as Huntington disease, that
would not affect the individual for many years, during which time a
treatment may be discovered. There are also genetic tests that identify
predisposition to, or increased risk of, developing a disease such as
breast cancer as an adult. There is considerable debate about which of
these tests are ethically appropriate for use in the reproductive
context.
Many observers are concerned that the use of prenatal genetic
testing will escalate to the point where it is used to test for what
some call ``designer traits''--characteristics unrelated to health such
as intelligence or athletic ability. These most controversial tests,
however, are not yet, and may never be, available in any context
because these complex attributes result from the interaction of a host
of environmental and genetic factors.
Americans' support for the use of reproductive genetic testing
depends heavily on the circumstances under which it is being used. In a
2004 survey conducted by the Genetics & Public Policy Center,
respondents were asked a set of questions about the appropriateness of
using prenatal testing to find out whether a fetus will:
develop a fatal childhood disease;
be a good match to donate his or her blood or tissue to a
brother or sister who is sick and needs a transplant;
have a tendency to develop a disease like adult-onset
cancer;
be a certain sex; and
have desirable characteristics like high intelligence or
strength (hypothetically).
About two-thirds of the general public approved of the use of
prenatal genetic testing for a fatal childhood disease and for tissue
matching. A slight majority of survey participants approved of using
reproductive genetic testing technologies to identify alterations
associated with a tendency to develop an adult-onset disease like
cancer. There was less support for using testing to identify or select
sex and a majority disapproved of using hypothetical prenatal genetic
testing to identify characteristics like intelligence or strength.
Thus, a majority of Americans approve of prenatal genetic testing to
identify health-related genetic characteristics and a similar majority
disapprove of its use to identify traits. Attitudes towards prenatal
genetic testing vary somewhat by race, education, religion, income and,
as shown, by sex but follow the same general pattern with a majority of
all groups supporting prenatal genetic testing for health-related uses.
5. Diverse Views on Government Oversight of Prenatal Testing
Lastly, I would like to share with you some insights into what the
American public thinks is the appropriate role of government in
overseeing the development and use of reproductive genetic testing. In
our April 2004 survey we asked 4,834 individuals whether the
government:
should regulate prenatal genetic testing based on quality
and safety
should regulate prenatal genetic testing based on ethics and
morality
should regulate prenatal genetic testing based on both
quality and safety AND ethics and morality
should not allow prenatal genetic testing at all
should not regulate prenatal genetic testing at all.
Their responses are shown in the graph below and reveal the
remarkable diversity of views present among Americans.
In conclusion, genetic tests provide information. There are a
number of steps that could be taken to ensure that people have the
right to know and the right not to know genetic information, to ensure
that the information is accurate, and that society continues to support
all prospective parents and their children. The Genetics and Public
Policy Center would be happy to provide additional information and
analysis as you consider prenatal genetic testing or other issues
raised by advances in human genetics. Thank you.
Senator Brownback. Thank you, Dr. Hudson.
And, Mr. Andrew Imparato, thank you for joining us--
President and CEO of American Association of People with
Disabilities.
STATEMENT OF ANDREW J. IMPARATO, PRESIDENT AND CHIEF EXECUTIVE
OFFICER, AMERICAN ASSOCIATION OF PEOPLE WITH DISABILITIES
(AAPD)
Mr. Imparato. Yes, thank you, Senator Brownback, for having
this hearing.
And I am Andy Imparato. I'm the President of the American
Association of People with Disabilities. We're a membership
organization promoting political and economic empowerment for
children and adults with all types of disabilities of all ages
in the U.S. And I'm proud to say that Cheryl Sensenbrenner is
one of our board members, and I was delighted to--that you had
her come and testify, as well, today.
Senator Brownback. I might add, you had an intern in our
office, this last year, who was just a crackerjack. I hope I
can get her back, full-time employment, when she finishes
college.
Mr. Imparato. Stacey Survasis. She had a wonderful
experience----
Senator Brownback. Yes, she's----
Mr. Imparato. I know you have another intern who's
participating in the program that we're involved with, as well.
Senator Brownback. Yes.
Mr. Imparato. You know, the real point that I wanted to
make today is that the disability rights movement needs to be
part of this discussion and part of this debate. And I'm
delighted that you started with Cheryl Sensenbrenner, a woman
with a disability, and her sister, Tara, giving their
perspective on this issue.
One of the challenges that I think we run into is, if we
let doctors and scientists control the debate, if you have to
have a Ph.D. to participate in the debate, or an M.D., you're
going to miss important human perspectives on what it means to
have a disability.
My own personal connection to disability, I have bipolar
disorder, or manic-depression. A lot of people have told me
that there's a strong genetic link to that. If I look in my
family, I can see that. I'm worried about what's going to
happen in the future if people can do tests to find out that a
child is likely to have manic-depression. If they've had a bad
experience with somebody with manic-depression, is that going
to color their decisionmaking? And what kind of a context are
they going to be given when they're given the information from
the test?
One of the most basic principles of the disability-rights
movement is that disability is a natural part of the human
experience that, in no way, should limit a person's ability to
make choices, pursue meaningful careers, live independently, or
participate fully in all aspects of society. When you hold that
principle up against some statements that we hear from
ethicists and from scientists--and I know you've got some blown
up here in the front of the room--the statements are completely
inconsistent with the notion that disability is a natural part
of the human experience and does not equate to a negative,
inherently.
A lot of people talk about a disability as if it were a
tragedy, but disability need not be, and should not be, seen as
a tragedy to be avoided, but as part of human diversity that
can be accommodated and viewed as a source of strength, pride,
and identity. Tragedies occur when our society artificially
limits the ability of disabled people to participate fully in
community life. When individuals are warehoused in nursing
homes and other institutions because of a lack of funding for
community-based support, when children are isolated and fall
victim to the low expectations of teachers who lack the
preparation or imagination to meet their needs, or when
qualified workers seek employment and encounter prejudice that
thwarts their career goals, that's where the tragedy occurs.
I think it's important, as we talk about new genetic tests
and technologies, that we be cognizant of our history in this
country of eugenics and what we've done to people with
disabilities in the name of eugenics.
In 1927, in the case of Buck versus Bell, Justice Oliver
Wendell Holmes ruled that he thought it was appropriate to
forcibly sterilize people who were classified as
``feebleminded,'' so that they could not have a child. And this
category included people with psychiatric disabilities, people
with intellectual disabilities, and people with neurological
disorders. In that decision--again, this was in 1927--Justice
Holmes wrote, ``It is better for all the world if, instead of
waiting to execute degenerate offspring for a crime or to let
them starve for their imbecility, society can prevent those who
are manifestly unfit from continuing their kind.''
Who decides who is manifestly unfit? This kind of ideology
led to people with disabilities being one of the first groups
that Hitler went after, and the Nazis went after, in the
Holocaust, to exterminate as part of the T-4 program. And one
would hope that the reactions to the holocaust and the advent
to the disabilities rights and independent living movements in
the U.S. and around the world would have put an end to eugenic
efforts to eliminate people with disabilities. Certainly, the
holocaust should have sensitized the medical and ethical
communities to the dangerous potential of eugenic ideologies.
But, unfortunately, if we look at the rhetoric of some
modern scientists and ethicists, we haven't put this issue to
bed. Bob Edwards, the esteemed embryologist who created
Britain's first test-tube baby remarked, at an international
fertility conference in 1999, that the increasing availability
of prenatal screening for genetic disease gave parents a moral
responsibility not to give birth to disabled children.
``Soon,'' he pronounced, ``it will be a sin of parents to have
a child that carries the heavy burden of genetic disease. We
are entering a world where we have to consider the quality of
our children.''
Peter Singer, a bioethics professor at Princeton, has
written that, quote, ``It does not seem quite wise to increase
any further draining of limited resources by increasing the
number of children with impairments.''
These kind of statements, to me, are examples of hate
speech. They're examples of not understanding what people with
disabilities are capable of achieving, how we feel about the
quality of our own lives, and really, to me, harken back to the
1920s and to our ugly history of eugenics in this country and
other countries.
I agree with a lot of the recommendations that have been
made previously, and they're in my written testimony. I think
it's critical, again, that people with disabilities be part of
the public debate about what we do with these technologies. I
think it's essential that families have an opportunity to talk
to families that have children with disabilities when they're
given diagnostic test results, and they be encouraged to do so.
I also think it's essential that people with disabilities
be encouraged--and family members of people with gene-linked
disabilities--be encouraged to go into genetics counseling as a
profession, because they have personal experience with these
conditions, and can convey that in their role as a counselor.
But, most important, I think that our public policy must be
crystal clear that no family will ever--and I agree with
Kathy's point on this--no family will ever be penalized for
choosing not to have prenatal genetic diagnostic tests or for
choosing to go forward with a pregnancy after a disability has
been prenatally diagnosed. And no treating physician or
treating professional should be penalized if their patient
chooses not to have a test or chooses to go forward with the
pregnancy.
And, last, it's critical that we build a network of support
for families adjusting to the news that their baby is likely to
have a disability, and that we expand programs like early
intervention, affordable quality healthcare, respite care,
accessible housing, and other forms of family support so that
families can move forward with a pregnancy without having to
incur severe financial and emotional hardships as they work to
make their newborn is getting the best quality care possible.
Again, thank you for having this year. With all respect to
Senator Lautenberg, I think this is an appropriate topic for
this Committee and others. Kathy and I have testified in front
of the Health, Education, Labor and Pensions Committee on the
need for legislation prohibiting discrimination on the basis of
genetic information, which she referenced. So, clearly, there
are other committees that need to be involved, but, to me, this
is, in part, an issue of science and technology policy. So
thank you.
[The prepared statement of Mr. Imparato follows:]
Prepared Statement of Andrew J. Imparato, President and Chief Executive
Officer, American Association of People with Disabilities (AAPD)
Mr. Chairman, Ranking Member Breaux, and Members of the Senate
Commerce, Science and Transportation Subcommittee on Science,
Technology and Space:
Thank you for the opportunity to provide testimony regarding the
important topic, ``Prenatal Genetic Testing Technology.'' I am honored
to have this opportunity. My name is Andrew J. Imparato and I am the
President and Chief Executive Officer of the American Association of
People with Disabilities (AAPD), a national non-profit, nonpartisan
membership organization promoting political and economic empowerment
for the more than 56 million children and adults with disabilities in
the U.S.
With more than 100,000 individual members around the country, AAPD
is the largest membership organization bringing together the diverse
populations that make up the disability community. AAPD operates
programs in the areas of leadership development, internships, mentoring
and career exploration, civic participation, public policy advocacy,
and member benefits. Founded on the fifth anniversary of the Americans
with Disabilities Act (ADA), AAPD advocates for policies that are
consistent with the goals of the ADA: equality of opportunity,
independent living, economic self-sufficiency, and full participation
in all aspects of society. My testimony today will address some of the
disability rights issues that must be considered as the technology of
prenatal genetic testing continues to develop.
As person with a disability that likely has a genetic link (bipolar
disorder) and a civil rights lawyer, I am here today because I am
concerned about the increasing potential of the new genetic
technologies to be used in a manner that discriminates against
individuals with disabilities. I am also concerned about the rise of a
new eugenics that threatens to undo some of the important advances in
how our society views children and adults with disabilities.
One of the most basic principles of the disability rights movement
is that disability is a natural part of the human experience that in no
way should limit a person's right to make choices, pursue meaningful
careers, live independently, and participate fully in all aspects of
society. Disability need not be seen a tragedy to be avoided, but as
part of human diversity that can be accommodated and viewed as a source
of strength, pride and identity. Tragedies occur when our society
artificially limits the ability of disabled people to participate fully
in community life; when individuals are warehoused in nursing homes and
other institutions because of a lack of funding for community-based
supports; when children are isolated and fall victim to the low
expectations of teachers who lack the preparation or imagination to
meet their needs; or when qualified workers seek employment and
encounter prejudice that thwarts their career goals.
As we examine the implications of prenatal genetic testing
technologies, it is important that we remember the history of eugenics
in the U.S. and the very real negative impact that this history had on
the lives of people with disabilities, especially people with mental
disabilities. In 1927, in the case of Buck v. Bell, Justice Oliver
Wendell Holmes wrote a decision for the U.S. Supreme Court upholding
the practice of involuntary sterilization of people who were classified
as ``feeble-minded'' (a broad category that included not just people
with psychiatric and intellectual disabilities but also people with
seizure disorders and other neurological conditions). Writing for the
Nation's highest court, Justice Holmes opined: ``It is better for all
the world, if instead of waiting to execute degenerate offspring for
crime, or to let them starve for their imbecility, society can prevent
those who are manifestly unfit from continuing their kind.'' Buck v.
Bell, 274 U.S. 200 (1927).
In this now infamous ruling, Justice Holmes was supporting a world
view that was in vogue among many American intellectuals at the time,
and a view that became widely held among the Nazis in Germany.
Physically and mentally ``defective'' people were among the first
targets of the Holocaust, as Hitler's ``T-4'' program systematically
exterminated disabled and chronically-ill Germans who were perceived as
threatening the genetic purity of the Aryan race.
One would hope that reactions to the Holocaust and the advent of
the disability rights and independent living movements in the U.S. and
around the world would have put an end to the eugenic efforts to
eliminate people with disabilities. Certainly, the Holocaust should
have sensitized the medical and ethical communities to the dangerous
potential of eugenic ideologies. Unfortunately, if we examine the
rhetoric of some influential modern scientists and ethicists, we can
see the emergence of a new eugenics tied to the rapid advances in
scientific understanding of the human genome.
For example, Bob Edwards, the esteemed radiologist who created
Britain's first test-tube baby, remarked at an international fertility
conference in 1999 that the increasing availability of prenatal
screening for genetic disease gave parents a moral responsibility not
to give birth to disabled children. ``Soon,'' he pronounced, ``it will
be a sin of parents to have a child that carries the heavy burden of
genetic disease. We are entering a world where we have to consider the
quality of our children.''
Closer to home, Peter Singer, a bioethics professor at Princeton,
has written that ``it does not seem quite wise to increase any further
draining of limited resources by increasing the number of children with
impairments.'' Singer has even gone so far as to defend the ethics of a
parent's choice to kill a disabled infant within a certain number of
days after its birth. His Princeton colleague, molecular biologist Lee
Silver, writes about a future in which the wealthiest in society will
be able to pay for genetic modifications, resulting in a societal
segregation between the ``GenRich'' and the ``Naturals.'' In this
society, according to Silver,
``The GenRich--who account for 10 percent of the American
population--all carry synthetic genes. All aspects of the
economy, the media, the entertainment industry, and the
knowledge industry are controlled by members of the GenRich
class. . . . Naturals work as low-paid service providers or as
laborers. . . . [Eventually] the GenRich class and the Natural
class will become entirely separate species with no ability to
cross-breed, and with as much romantic interest in each other
as a current human would have for a chimpanzee.''
From Remaking Eden: Cloning and Beyond in a Brave New World (New York,
Avon Books, 1997, pages 4-7).
This kind of rhetoric, which should trouble anyone concerned about
American ideals like equal opportunity and a just society, is
particularly alarming for many of us in the disability rights movement.
As Colorado disability activist and writer Laura Hershey has observed,
The application of genetic knowledge to the repair of damaged
genes, for the purposes of treating certain illnesses, may
offer welcome benefits to some people with disabilities. But
genetic research is likely to be put to other, more insidious,
uses--such as denying health insurance, even jobs, to people
whose genes predispose them to medical problems. Another threat
is the implementation of eugenic policies to ``weed out''
certain types of people from the population. Thus, along with
the much-heralded scientific advances offered by genetic
research, disability activists nervously witness a resurgence
of eugenic thinking.
``Will Genetic Research Lead to Eugenic Policies?,'' August 26, 1999,
from Laura Hershey's online column Crip Commentary.
Because society continues to devalue the quality of life of people
with disabilities, based on fears, myths and stereotypes that some
people associate with particular disabling conditions, it is critical
that people living with disabilities and their families play a large
role in the ongoing public debates about how the new prenatal genetic
testing technologies will be used. Equally important, the perspective
of people with disabilities and their families should be incorporated
into the education of physicians, genetics counselors, and other
professionals who are interacting with expecting parents as they make
choices about which tests to have and what to do in light of the
results.
To the greatest extent possible, expecting parents who receive
positive test results should be given an opportunity to meet with and
talk to individuals and families who have experience with the
particular disability that has been indicated. There is no substitute
for this kind of first-person account of the joys and challenges that a
child with a disability can pose for a family. This kind of exposure
can demystify what the diagnosis means and begin the process of
building a support network that will be critical for the family to
develop as it prepares for the birth. One way to facilitate this
outcome would be to create incentives for people with gene-linked
disabilities and their family members to go into genetics counseling as
a profession.
One of the dangers of the expansion of prenatal genetic testing
technologies is that expecting parents will experience pressures to
terminate their pregnancies from medical professionals and insurers.
Doctors may want to avoid a complicated delivery and insurers may want
to avoid expenses associated with the child's disability. Our public
policy must be crystal clear that no family will ever be penalized for
choosing not to have prenatal diagnostic tests or for choosing to go
forward with the pregnancy after a disability has been prenatally
diagnosed. Similarly, we need to protect medical professionals from
being penalized or held liable in the event their patients elect to
avoid prenatal tests or choose to move forward with a pregnancy where a
disability has been prenatally diagnosed.
Finally, we need to work to build networks of support for families
adjusting to the news that their baby is likely to have a disability,
and to expand programs like Early Intervention, affordable quality
healthcare, respite care, accessible housing, and other forms of family
support so that families can choose to move forward with a pregnancy
without having to incur severe financial and emotional hardships as
they work to make sure their newborn is getting the best quality care
possible.
As President Bush remarked when he introduced his New Freedom
Initiative for people with disabilities in February of 2001,
Wherever a door is closed to anyone because of a disability, we
must work to open it. Wherever any job or home, or means of
transportation is unfairly denied because of a disability, we
must work to change it. Wherever any barrier stands between you
and the full rights and dignity of citizenship, we must work to
remove it, in the name of simple decency and simple justice.
Our challenge is to make sure that the growing technology of
prenatal genetic testing does not erect new barriers to the full rights
and dignity of citizenship, and that our values of simple decency and
simple justice enable us to avoid the pitfalls of the new eugenics.
Thank you again for calling attention to this important growing
technology, and for your desire to get a disability perspective on this
difficult topic.
Senator Brownback. Well, I obviously think it is, as well.
And it's a key part, and it's on us, and I think it's something
that we really need to have a good public discussion and a
legal framework around it. Thank you very much for your
testimony. There was excellent thought put forward.
Mr. Kimbrell, good to have you back with the Committee--
Executive Director, International Center for Technology
Assessment.
STATEMENT OF ANDREW KIMBRELL, J.D.,
EXECUTIVE DIRECTOR, INTERNATIONAL CENTER FOR
TECHNOLOGY ASSESSMENT
Mr. Kimbrell. It's good to be back with you, Mr. Chairman.
And, yes, I am the Executive Director of the International
Center for Technology Assessment, and we do assess cutting-edge
technologies in transportation, commerce, and science. I wish
Senator Lautenberg were here, because my organization
spearheaded litigation against the EPA to try and establish
greenhouse gases as pollutants. We're joined by 11 states and
five municipalities. And I certainly share his view that
greenhouse--the greenhouse crisis is very important and does
affect generations. But I would take issue with the Senator in
his diminishing this extremely important issue that you've
brought before us today; and I'm so glad you have, because it
is so rarely discussed.
And I'm very, very pleased to be with Andy Imparato, who's
done such great work here. And I'm looking forward to Kathy
Hudson's work. I know many people who have been involved in
that study, and I'm--I think it's going to be a very important
addition to this very important debate.
And, having said that, I want to--I've submitted testimony
on a number issues, but I want to follow up on what Andy
Imparato said, because this is really important, to put this
discussion in the framework of a hundred years of eugenic
history in this country and elsewhere.
The eugenics that most of us are familiar with happened
postnatally. They were based on political agendas or social
efficiency. And the techniques that were used were
sterilization. We sterilized over 60,000 people in this
country, involuntarily, through 1958. Fifteen states still have
those laws on their books, by the way, Mr. Chairman.
And, additionally, it was based on a kind of biological
determinism and racial determinism that made people--biology
was your destiny. And, therefore, if we didn't approve of your
destiny, you didn't--you were unable to--sometimes not even
survive. Often, we didn't allow you to have children, through
forced sterilization.
We're not talking about that. The new eugenics is a little
different than the old eugenics. But I think it's--it is just
as threatening. And this eugenics is not happening postnatally,
it's happening prenatally. And the techniques are no longer the
rather blunt techniques of extermination or sterilization, but,
rather, subtle techniques that we're talking about today, both
in prenatal and now, with the new techniques, they're
preimplantation genetic diagnosis, where we can actually try
and create children.
And I think that what's very important to this Committee
and, I hope, to this country, is, Are we going to begin a new
era of commercial eugenics for the profit of a few corporations
and the ability of scientists and corporations to patent
genes--and even patent embryos--is going to be driving this new
eugenics? But the result will be the same, as has been
described by this panel.
So this is an extremely important question, Should we begin
the commerce of eugenics? Should we begin the commerce where
eugenics becomes a common practice? And it also is a very
critical scientific question, because, just like biological
determinism controlled the eugenics of the past, so genetic
determinism is now controlling this new revolution.
I'm sure everybody on the panel is aware, as I am, that we
have new results in the Human Genome Project, that you talked
about in your opening remarks, Mr. Chairman. Originally, we
thought we were going to have about 130,000 genes, because
that's the numbers of proteins, the number of traits of
proteins, for creating human beings. It turned out we only had
about 30,000 to 35,000 genes. And, just a week and a half ago,
the International Human Genome Project said, ``You know what?
We only have about 20,000 genes.'' That's about as much as a
worm. So we have as many genes as worms have, but at least some
of us have more traits.
[Laughter.]
Mr. Kimbrell. So where did all those traits--what's
creating all those traits? If it isn't the gene, what's
creating all those traits? We only have as many genes as worms.
You know, we've been sold, kind of, a snake-oil thing here for
several decades, that this genetic determinism was our biology
and was our destiny. And what scientists are now saying is,
that is simply not true. This genetic determinism is a triumph
of orthodoxy over fact.
I just want to read, very briefly here, from the Scientific
American of November 2003. ``And they say, you know, the
essential dogma is dead, this genetic determinism, and proven
to be false by the Human Genome Project. And they say it will
take years, perhaps decades, to construct a detailed theory
that explains how DNA, RNA, and the machinery of all of life
fit into an interlocking self-regulating system. But there is
no longer any doubt that a new theory is needed to replace the
central dogma that has been the foundation of molecular
genetics and biotechnology since the 1950s.'' This is
Scientific American.
In my testimony, I've included testimony by Dr. Richard
Stroehmann, 25 years research director for the Muscular
Dystrophy Association, where he says that less than 2 percent--
less than 2 percent--of all diseases--less than 2 percent--are
actually caused by a single gene, are monogenetic; the rest of
caused by multifactual areas, including the environment,
including the interaction of proteins, new discoveries they're
making in RNA, and what they used to call junk DNAs--completely
complicated, nothing to do with that simple model: one gene,
one disease. Very small percentage of diseases.
And yet--and this is just by my count; I'd bet members of
the panel have something to add to this--I have read that there
is a gene for anxiety attacks. I have read that there is a gene
for alcoholism. I have read that there is a gene for
homosexuality. I have read that there is a gene for IQ. I have
read that there's a gene for criminal behavior, a gene for
obesity, a gene found, apparently, by some British researchers,
for female intuition.
[Laughter.]
Mr. Kimbrell. A gene for shyness. This was reported in the
Washington Post last year, a gene for shyness. I thought the
schools might be able to use that. And, of course, the gene for
manic-depression.
And what makes this propaganda--and that's what it is,
commercial propaganda for people who are trying to sell this--
sell this new eugenics--because that's what this is about,
commercial eugenics--is that, unfortunately, people believe it.
The alcoholism gene became a joke. The homosexuality gene led
to, actually, some indictments for fraud. But 60 percent of
Americans still believe that alcoholism is due to a defective
gene.
And in polls that we have seen--and these are just the ones
that we've selected; I'd be very interested in Kathy's work--we
have 1 percent of Americans said that they would abort for sex
selection; 6 percent said they would abort a child that might
be predisposed to Alzheimer's; 11 percent said that they would
abort a child predisposed to obesity.
Senator Brownback. Wow.
Mr. Kimbrell. Now, the--unfortunately, this is not simply
theoretical. That eugenics is occurring. We know sex selection
is occurring in every one of the technologies we talked about
today. Every one of the technologies already--including
preimplantation genetic diagnosis--has already been used for
sex selection, as the President's Council on Bioethics issued
its report--reported. So it's already happening. This isn't
theoretical. You know, we're behind the game on this one. And,
you know, we've already tried to create a market where people
don't want happy children, they want people that they're happy
with.
And, as somebody who has appeared before you many times,
Mr. Chairman, representing pro-choice groups, I do not want to
see the pro-choice movement being used as a smokescreen for
these new eugenics. I do not want a woman's right to choose to
be transformed into a free pass to this new commercial
eugenics. I think it would be a disaster for the pro-choice
progressive movement for that to happen. And I certainly think
if we prevent--and we should--if we could prevent sex
discrimination in the workplace, shouldn't we prevent sex
discrimination in who gets to live?
So, this is a very historic issue that we've brought up
today, and I hope that our legislators are up to it, because we
have to craft very important policy prohibitions right now on
eugenics, while preserving the reproductive rights so many of
us believe in.
This is going to be an enormous challenge, but, I think, by
starting the discussion today, you've taken at least the first
step in that direction. I thank you for holding these hearings.
[The prepared statement of Mr. Kimbrell follows:]
Prepared Statement of Andrew Kimbrell, J.D., Executive Director,
International Center for Technology Assessment
History does not repeat itself, but it does rhyme--Mark Twain
Preimplantation Genetic Diagnosis (PGD) is only one of many
emerging genetic and reproductive technologies in need of broad public
discussion and regulation, but we view PGD as a gateway technology.
PGD, if permitted to continue unregulated, could pave the way to new
eugenics, where children are literally selected and eventually designed
according to a parent's desires and fears.
Recent rapid developments in PGD indicate that we are stumbling
down a slippery slope toward this future rendering a policy response an
urgent matter. Finally unfettered developments of PGD applications in
the U.S. attest to the general failure of the U.S. policy regarding
genetic and reproductive technologies. This policy failure must be
corrected if we are to prevent a new eugenics in the U.S. and abroad.
Germany, Austria, Ireland, Switzerland, and Southwest Australia
have banned PGD outright. Other nations, including the United Kingdom,
France, the Netherlands, Belgium, Italy, and Greece have limited the
use of PGD. Even in the US, until recently, PGD was used exclusively
for medical purposes.
Today, two thirds of the 50 or so fertility clinics in the world
offering PGD are in the US. Some clinics are blatantly performing PGD
for selection.\1\ Many other clinics have used PGD to avoid late-onset
diseases like Alzheimer's. A growing number of couples are using PGD to
select an embryo that would grow into a child intended to be a tissue
match for its sibling. None of these applications were subject to
formal regulatory review or public deliberation prior to their use. In
the case of sex selection, the practice specifically violates the
voluntary guidelines of the American Society of Reproductive
Medicine.\2\
---------------------------------------------------------------------------
\1\ Aron Zither, ``A girl or a boy, you pick,'' Los Angeles Times,
July 23, 2002, A1.
\2\ American Society of Reproductive Medicine,1999, ``Sex selection
and preimplantation genetic diagnosis,'' Fertility and Sterility
72(4):595-598.
---------------------------------------------------------------------------
The U.S. lack of regulation has resulted in advocates of expanded
PGD in other countries to push for more permissiveness abroad. Some of
the advocates, including Robert Edwards, who 25 years ago performed the
first successful IVF procedure in humans, explicitly promote the new
eugenic approach. Edwards has predicted that ``Soon it will be a sin
for parents to have a child which carries the heavy burden of genetic
disease. We are entering a world where we have to consider the quality
of our children.'' \3\
---------------------------------------------------------------------------
\3\ Edwards speaking at European Society of Human Reproduction and
Embryology as reported in Metro July 5, 1999.
---------------------------------------------------------------------------
In the United Kingdom groups have already organized protests
against this new eugenics. People Against Eugenics \4\ organized a
September 30, 2004 protest at a British pro-eugenics conference at the
Royal Society in London. The press release denounced the eugenics
conference organizer, the pioneer of IVF, Robert Edwards as the link
between the old-fashioned state sanctioned eugenics and the new free-
market version. It notes that Edwards, who 25 years ago, performed the
first successful IVF procedure in humans is the former President and a
leading member of the British eugenics society.\5\
---------------------------------------------------------------------------
\4\ E-mail from peopleagainsteugenicsQhotrnail.com on September 30,
2004.
\5\ The Eugenics Society founded in 1907, changed its name to the
Galton Institute in 1989.
---------------------------------------------------------------------------
Today, twenty-five years after the birth of Louis Brown from
Edward's IVF technique, some one million children have been born from
the process of IVF. The paralleled development of genetic testing has
resulted into the merger of genetic testing and assisted reproduction
into preimplantation genetic diagnosis (PGD). Parents can now choose
which of their embryos to implant in the mother's womb based on the
outcome of more than 1,000 genetic tests that potentially could be
performed on the embryos.
At birth, Chloe O'Brien seemed no different than any other healthy
baby, but Chloe was the pioneer product of the new technology of PGD.
Born in March 1992, she was the first baby to be genetically screened
as an embryo for a genetic defect, cystic fibrosis (CF), before being
implanted into her mother's womb.\6\
---------------------------------------------------------------------------
\6\ Larry Thompson, ``Cell Test Before Implant Helps Insure Healthy
``Test-Tube'' Baby,'' Washington Post, April 27, 1992, A1.
---------------------------------------------------------------------------
In the 12 years since Chloe's birth, up to 10,000 \7\ children have
been born after a preimplantation genetic screening. Chromosome
abnormalities such Down syndrome and single gene defects including CF,
Tay Sachs, muscular dystrophy and sickle cell anemia have been screened
with PGD.
---------------------------------------------------------------------------
\7\ The President's Council on Bioethics, Beyond Therapy:
Biotechnology and the Pursuit of Happiness, October 2003, p. 53.
---------------------------------------------------------------------------
These tests screen for some diseases like Tay Sachs, which disease
results in short brutal lives for the children with the disease, but
also for diseases like Downs where children can live into their 50s or
later. Genetic testing for these diseases is not new in that many of
them are already tested for through amniocentesis.
PGD accelerates trends begun through prenatal testing
While in the U.S. there are no national data on how many
pregnancies are terminated as the result of prenatal testing, some
regional results may highlight what decisions are being made through
pre-natal diagnosis. Interestingly, some data suggest that more women
may be carrying Down syndrome babies to term. A study at Harvard-
Pilgrim Health Care found that while the incidence of pregnancies with
Down syndrome in the HMO had increased from 2 per 1,000 in 1992 to 6
per 1,000 in 1996, there was a significant trend toward carrying
fetuses with Down syndrome to term. In 1992, almost 100 percent of
fetuses prenatally diagnosed with Down syndrome at the HMO were
terminated; in 1994-95, this figure was 65 percent.\8\
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\8\ M.D. Macmillin and S.P. Parker at the American Society of Human
Genetics, November 1, 1996.
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Rates of pregnancy termination for Down syndrome vary considerably
between hospitals and between ethnic and religious groups. A 2004 study
by the CDC of Down syndrome in Atlanta women found a lower portion of
elective termination among black women as compared to white women.\9\
---------------------------------------------------------------------------
\9\ C. Siffel, A. Correa, J. Cragan, C.J. Alverson, Prenatal
diagnosis, pregnancy terminations and prevalence of Downs syndrome in
Atlanta. Birth Defects Res Part A Clinical Mol. Teratol. Sept. 2004;
70(9): 565-71.
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A study of pregnancy terminations for Downs in Boston in 1996 found
that rates of termination varied widely between the north and south
shores of Boston even though both groups of women received genetic
counseling from the same people. Apparently women with deeply held
beliefs about abortion decided to terminate the Down syndrome fetus at
a much lower rate than women who did not have the same beliefs.
Improvements in societal attitudes and support services for children
with Downs also seemed to change the numbers of women choosing not to
terminate their pregnancies. Women who are better prepared for their
child's condition may also be more willing to carry a pregnancy to
term. Some researchers report, however, that most women carrying
fetuses whose disorders are usually fatal at in early infancy choose to
terminate those pregnancies.\10\
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\10\ The Impact of Prenatal Diagnosis on Down Syndrome,
Anencephaly, and Spina Bifida, Gene Letter, March 1, 1997 in
www.genesage.com/professionals/geneletter/archives/theimpact.html.
---------------------------------------------------------------------------
Many parents of children with Down syndrome consider them to be
special children. A United Methodist minister from New England and his
wife have a child with Down syndrome that he considers a gift from God.
``We fluctuated between accepting and rejecting the Downs
diagnosis . . . That day we also got word that the chromosomal
test confirmed the Downs condition; by now the news was
expected and absorbed . . . almost exactly a week after birth,
we had our exit interview with our nurse in charge, wrapped
baby up and buckled her into our inspected car seat, and
gingerly drove back to our apartment and began the awe-some
process of becoming full time parents.
She is lovely. (She) is made in God's image. She is a letter
from God that says, ``I love you.'' As I began jotting down
notes for today late at night, she was lying first on my
shoulder, then on my lap, then on the bed between (her mother)
and I. Her touch is wonderful. Her face testifies to God's
glory.'' \11\
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\11\ Letter from Rev. Tim Atwater to Jaydee Hanson, Nov. 2, 2002.
Unlike prenatal diagnosis, that might be used by a couple to
prepare for child that has a genetic disease, preimplantation genetic
diagnosis is likely to result in a decisions to exclude from
implantation ANY embryo that has a suspected genetic disease or trait
that might lead to disease in later generations. In this respect,
preimplantation diagnosis, even more than prenatal diagnosis is a
eugenics practice. By excluding individuals that might live with
genetic diseases for many years, PGD is a form of negative eugenics.
The designer baby wherein ``positive'' characteristics are selected for
is not yet here, but it is a short step away.
PGD promotes both genetic discrimination and more IVF procedures
If we fail to pass legislation to prohibit all forms of genetic
discrimination, parents may feel even more pressure not to have
children with known genetic diseases. In these cases, they may choose
to have IVF combined with PGD to avoid having a child with
``avoidable'' genetic diseases. If that happens, the brave new world of
free market eugenics will have arrived.
Some argue that PGD should be a standard part of IVF practice. PGD
is now performed routinely at one of the world's leading IVF clinics,
the Reproductive Genetics Institute in Chicago. ``It should be done for
every IVF cycle, in my view,'' says Yury Verlinsky, the institute's
director. ``It doubles or triples the implantation rate, while
decreasing dramatically the miscarriage rate.'' The overall effect,
says Verlinsky, is to more than double the average success rate per IVF
cycle, so that couples have a greater chance of conceiving a child and
to do so sooner.\12\
---------------------------------------------------------------------------
\12\ Philip Hunter, Preimplantation Genetic Diagnosis: Studies
begin to assess how screening might improve IVF success rates, The
Scientist Jun. 21, 2004.
---------------------------------------------------------------------------
PGD is still an experimental procedure. We do not know what long
term health damage is caused to the early embryo as a result of
removing one of its cells for genetic analysis. Furthermore, it
requires a woman to use IVF, burdensome and risky procedure in order to
have a child. Hormonal treatments required for egg extraction have
caused long-term health problems in women. Low implantation rates and
the high costs of the procedure \13\ encourage fertility specialists to
implant multiple embryos at the same time, resulting in high rates of
multiple births. WF infants moreover have twice the risk of major birth
defects than those conceived naturally. Ironically, by encouraging more
women to undergo WF as a strategy to avoid birth defects, the
fertilization industry may be producing more birth defects.
---------------------------------------------------------------------------
\13\ M. Hansen, J.J. Kurincuzuk, C. Brower, and S. Webb, ``The risk
of major birth defects after intracytoplasmic sperm injection and in
vitro fertilization,'' New England Journal of Medicine (2002) 346:731-
737.
---------------------------------------------------------------------------
Nonetheless, fertility clinics as promoting PGD for more than just
the most awful birth defects. Mohammed Taranissi, who runs the Assisted
Reproduction and Gynaecology Centre in London, says that the industry
is considering promoting other kinds of PGD even more. It is possible
to test embryos for the genes that will cause certain ``late onset''
diseases, such as a form of Alzheimer's, which can occur in middle age
and some cancers. Doctors could identify and select embryos that would
have a healthy childhood and youth, but are destined to die
prematurely. ``Is this something that we should do? That to me is a
very important issue,'' said Mr. Taranissi.\14\
---------------------------------------------------------------------------
\14\ Sarah Boseley, Are we on the genetic slippery slope? The
Guardian, July 22, 2004.
---------------------------------------------------------------------------
If IVF becomes still more common and more health insurers beginning
paying for IVF, the combination of WF and PGD will likely mean the
exclusion for the genetic pool of families having WF any of the genes
that we are able to test for.
The absence of any real Federal regulation in this area will make
it likely that parents will have to make difficult decisions with
little guidance. There are only about 1,000 genetic counselors in the
entire country, too few to effectively counsel an increased number of
families seeking to use genetic testing. Moreover, only three states
currently license genetic counselors and many health plans have dropped
coverage for genetic counseling. Without independent counseling, the
very people that have a financial interest in testing embryos will be
advising couples on which embryos should be kept.
The New Eugenics as a form of ``Cold Evil''
The fertilization industry has become like many of our other
massive corporate and government bureaucracies wherein evil no longer
requires evil people to purvey it. We are witnessing the
``technification'' of evil. Unfortunately, we have utterly failed to
register the appropriate recognition and abhorrence of this new form of
institutional evil brought about through our economic and technological
systems. The tragic result of this failure is that this technological
``cold'' evil flourishes. If a totalitarian state were to propose
eliminating all of its differently abled residents, we would rightly
denounce that as the ``hot'' evil of genocide. If our society embarks
on technological strategy of eliminating its future disabled members
through a free-market technology should we be silent in the face of
this ``cold'' evil of eugenics?
Recommendations for Regulatory Guidelines for PGD
Limit genetic testing of embryos to those conditions that result in
early and painful death of children, such as anencephaly, Tay Sachs,
Lech Nyan's Disease.
Prohibit negative eugenics in the case of all other genetic conditions.
Prohibit the use of PGD for selecting for non-disease characteristics
such as height, weight, intelligence, personality traits, behavior or
gender.
Implement a complete ban on the genetic modification of human embryos,
including the introduction of synthetic genes or chromosomes.
Senator Brownback. Thank you. This is an excellent panel
and an excellent discussion.
Let me start on the issue of what we've learned from Down's
and spina bifida testing. And Mrs. Sensenbrenner touched on
this at the end of her testimony, that she doesn't feel like
that we've started off with a very good track record with our
ability to test on these two, and then now we're expanding into
a field of four or five hundred, or maybe more, genetic tests
that we can go with.
What have we learned from the practice of genetic pre-birth
testing on Down's syndrome and spina bifida? Has it impacted,
substantially, the number of children born with these two
characteristics? What has it done, in practice, to those
families? And I don't know, if one of the three doctors, who
would want to--or do we know, from this country, or do we have
better studies from other countries of what it's done?
Dr. Hudson. There have been studies that have looked at the
number of Down's births in the United States since, apparently,
we started marking whether or not a birth was a Down's birth on
birth certificates. And so you can actually follow the numbers,
over time, and there has been a reduction in the actual number
of live Down's births, compared to what is the expected number,
since the advent of testing. So there has been a decrease in
the number of live-born Down births.
Senator Brownback. By--do you know, Dr. Hudson, the numbers
in this----
Dr. Hudson. I could provide that for the record. I'd be
hesitant to give you a number, because I'm bad with numbers.
Senator Brownback. Yes. If you could, I would appreciate
that, for the record. Because, what I have looked at, it's
substantial. It's a substantial number. And my experience in
other countries has been that this has really changed the
number of Down's syndrome people in those societies.
[No information was provided at the time of print.]
Dr. Hudson. I think it's important to keep in mind that
when people--that screening does have a high false-positive
rate, and that does cause anxiety among those women. When they
get a screening test back that says, ``You are at increased
risk of having potentially a chromosomally abnormal fetus,''
they have this period of anxiety before they have the absolute
diagnostic test. And some people will choose, potentially, not
to have that diagnostic test if there's nothing that they would
differently based on that information. But some people want the
information, and they want the information in order to prepare
medically, to prepare financially, to prepare emotionally for
the birth of that child, or to make the always-difficult
decision to terminate that pregnancy. So the information is,
sort of--has a whole set of issues associated with making
decisions and what kind of information. I think the other
panelists have really raised some very good issues here about,
How do we present information and what kind of information is
presented about what the test will tell you and what the
disease or disorder means for families and the children
affected with those disorders?
Dr. Bruchalski. Just to follow up on Dr. Hudson's comments
on a practical, clinical level. Her comments are exactly right.
Parents believe that a simple blood test can tell them the
health of their child. That's how they approached this. That's
how they're--oftentimes, that's the information given. And what
they don't realize is, is that the screening test will--may
provide an answer that then prompts a more definitive test--
whether it's amniocentesis, or whether it's chorionic villus
sampling, what have you--that carries with it a significant
risk to terminating the life of their child, or the fetus
inside of them. And what happens is, is that when mothers and
fathers listen to this information, they're not fully--they're
as confused about what is screening and what is diagnostic, and
the anxiety that that provokes. Because they would never
subject their child to an airline ticket that would crash one
in 200 times. They just wouldn't do that. And yet that simple
blood test, that statistic, then prompts further discussion and
further decisions made by the parents. At least clinically,
moms want to spend time with their sick or their children with
disabilities. And I think Dr. Hudson's comments are correct,
there are people who really use this information to try to
prepare the family for the care of this individual.
I just know that I'm sick and tired--as a clinician, my
profession has taken multiple hits over the last several years
in reproductive issues. We put out--when it came to
contraceptives and IUDs, we seem to put them out ahead of time.
We're finding that there are side effects, whether it's with
IUDs, what have you. And then we have the Women's Health
Initiative, several years ago, that brought to light some risks
to menopausal hormones. We're giving Viagra to the fathers and
the husbands, but we're pulling away hormones from women
because of further knowledge that has come to light.
Women don't trust us. ``How dare you. You've let us down in
the past,'' whether it's contraceptively or whether it's with
peri-menopausal or menopausal hormones. And now I think it's
coming to roost with prenatal genetic testing. ``What you
promised is not what we're getting.'' Because I know the
difficulty that we spend, the time that we spend in our office
talking to parents about false positives and false-negative
tests, that they've come either from our practice or from other
practices.
Senator Brownback. Do we know anything from other
countries, numbers, tests on Down's syndrome children?
Dr. Hudson, do you know anything on that? Mr. Kimbrell, do
we----
Dr. Hudson. I'm sure it's known, but I don't know it, off
the top of my head.
I would want to make----
Senator Brownback. Mr. Imparato, do you have a number on
that? And I'll be happy to get back to you, but----
Mr. Imparato. I don't have a--I had another issue I wanted
to raise that relates to the numbers, but--did you have
something more directly----
Dr. Hudson. I just wanted to make the point that, with
first-trimester screening, while there are more positive
results than there are actually affected pregnancies, it has
had the effect of reducing the number of people who have had
amniocentesis. Because if you get the negative results, which
is good, back, then there's no reason, even if you have risk
factors--advanced maternal age, et cetera--there's no reason
for you to have amniocentesis. So the actual number of
amniocenteses are growing down as a consequence of the number
of pre---first-trimester, non-invasive screening tests going
up. So they have both some plus sides and down sides. But,
ultimately, the number of amniocenteses is going down.
Senator Brownback. Mr. Imparato?
Mr. Imparato. Yes, Senator, I just wanted to share a nuance
on this question that would be interesting to look at. I don't
know to what extent the researchers have. If you're talking
about the context of parents who are expecting their first
child, I think there's a lot of anxiety associated with the
first child, and people are going to likely want to have all
the information they can possibly get, because they feel that's
part of being a good parent.
I know when my wife and I had our first son, I was working
in disability rights. My wife wanted to have the test so she
could prepare. Second child, 5 years later, she didn't want to
have the test because, as a parent, she realized that there are
so many things that happen after the birth, you can't prepare
for all of it. You roll with the punches as a parent. I mean, I
think----
So I think it would be interesting to look at, What do, you
know, people that have experience as parents opt for, and what
happens in the context of the first pregnancy? And are people
with that level of anxiety--relating to some of the other
witnesses--are they in a really good position to hear that
information and process it, given the anxiety that they have as
new parents?
Senator Brownback. Mr. Kimbrell, I want----
Mr. Kimbrell. Mr. Chairman, I'd just quickly just jump in
on that, which is that you mentioned spina bifida a couple of
times, and I think it's a tremendous example of where genetic
determinism failed. It was assumed that spina bifida was going
to be either a monogenetic disease--and they said, ``Well, we
can't find that, so it's probably a multi-factual disease, a
lot of genes involved.'' And actually they found it was a
vitamin deficiency. If the 70 million women who can be pregnant
in America were given folic acid, this would disappear
altogether.
So, again, we--in this genetic determinism, you know, we
have failed to look at the environmental factors and some of
the economic factors that create a great many of these
problems, in focusing on the very small number of diseases that
actually are monogenetic. And I think it's an excellent of the
larger reach we should be doing if we really want to protect
children.
And, second, you know, we've talked almost solely about
prenatal diagnosis. We haven't talked about preimplantation
genetic diagnosis, PGD. And that's positive--that can be both
positive and negative eugenics, but it also can be used as
positive eugenics, where we can begin to select for certain
traits before we have an embryo implanted, in IVF. So it adds a
whole new element to this, which isn't just the negative
eugenics of aborting a child, but actually, in the IVF
circumstance, not going to an IVF center because you're
infertile, but going there because you want to plan your child.
A new commercial business in planning your children. And it
brings up some very unique and, as I said, very important
questions as to eugenics and commercial eugenics.
Senator Brownback. Dr. Hudson?
Dr. Hudson. I'd like to respond to the prior comments. The
notion that anyone would want to go through in-vitro
fertilization, which is expensive, painful, and uncomfortable,
in order to make use of the extraordinarily limited number of
tests that can be used in that context that are positively
eugenic strikes me as only applying to an extraordinary rare
individual.
The second is that, while my husband and I would love to
have, perhaps you could imagine, a tall, blonde child, we could
go through IVF, and there would be not a single embryo there
that had those characteristics, because you can only pick from
the characteristics that are present in the parents.
So I think we need to, sort of, have some realism, along
with a ``genetics are not destiny,'' in terms of thinking about
what the possibilities are here, and keep them focused on the
realistic, serious issues that confront us today, and not get
too far afield.
Mr. Kimbrell. Mr. Chairman, I just want to point out that
in the report that the President's Council on Bioethics
released, called, ``Reproduction Responsibility,'' they report,
with several footnotes, that over one-third of those who go
through this process are not infertile.
Dr. Hudson. But----
Mr. Kimbrell. So that's not a very rare individual. And,
also, it has already been used for sex selection and other non-
disease cases. This is the President's page. I can submit this
to the Committee for----
Senator Brownback. We will put it in the record, and I
appreciate the discussion back and forth on this topic.
[The information previously referred to is retained in
Committee files.]
Senator Brownback. I want to get back to Down's syndrome
and what we've learned going through this. And there are quotes
here that are really troubling to me. I think they're really
troubling to Mr. Imparato, that he would note, and did note.
There's an article yesterday quoting a Dutch physician.
This is in a Kansas newspaper. It says, quote--talking about
the selection of a child--``Babies should be killed whenever
some physical or mental defect is discovered, before or after
birth.'' This is a Dutch physician.
It does seem like we're coming to an age or a point where
we're going to have the ability to make a whole bunch more
choices, and we're going to know a whole lot more ahead of
time. And it does seem like we're trying to hone down into
just, kind of, who we really want here, or not.
Dr. Hudson, do you see that in any of your research, where
you're surveying and you're out, that--aren't you troubled by
that? And, if so, where would you draw some limits around this,
if you are troubled by it?
Dr. Hudson. Well, I think you raised a really good point in
your opening remark about starting a conversation. Because I
think to the extent that people are having the conversation and
thinking deeply about what is it that we want from this
technology and what kinds of decisions that we want to make,
that's going to help us all move along in this arena.
What we learned in our research was that where people draw
the ethical line is along a very large continuum, and that
people are anxious about other people making those limits or
lines for them. And that comes from across the spectrum.
But there is this sense among a vast majority of Americans
that there is a role that can be played by the government, in
terms of safety and accuracy of genetic testing, as I
mentioned. I think that we need to think long and hard, so that
when people are in the situation of facing--making a decision
about what tests to have, that they have as much information
and as much thinking about it in advance.
And I'll give you one example. Someone else mentioned CF
carrier screening is now the medical guidelines of the American
College of Obstetricians and Gynecologists. But those tests,
unfortunately, are most often being offered to parents to find
out the parents' risks of having a child with CF after the
woman is already pregnant. That doesn't make any sense. We
should be offering carrier testing and talking about genetics
before people start having children, and not after.
So there's a lot that we can be doing to give people an
opportunity--the worst time to be thinking about these things
is in that anxious early pregnancy time. We need to think about
these things ahead of time, collect information, have
opportunities to find out, What is having cystic fibrosis like?
What are the health conditions that you face? What kinds of
medical situations, what kinds of social situations?
Senator Brownback. Well, you know, Dr. Hudson, what about
sex selection? Should people be allowed to pick, based on sex
selection?
Dr. Hudson. I'm not going to make a comment about whether
people should or shouldn't. I will say that the most common
means of determining, prenatally, what the sex of a child is,
is not through genetic testing, but through sonography or
ultrasound. So prenatal genetic testing is really, sort of, an
offshoot. It's not directly relevant.
Senator Brownback. You're seeing this take place in a
number of countries, I believe. I've read articles--now, this
is in an article--that India no longer allows the sonogram
operator to tell the parents whether the child is male or
female, because they've had a number of girls--you know, baby
girls aborted. We're seeing some of this taking place in China.
That's happening, and it has had an impact of skewing the
population ratios of male to female within that society.
Dr. Hudson. There's also----
Senator Brownback. So, I mean, this is a very practical
issue that's being expressed in many places around the world.
Dr. Hudson. In this country, there's also technology prior
to conception in which you can pick the sex of your offspring--
called microsort--in which the sperm are separated based on
whether or not they carry a Y chromosome, which would produce a
male, or an X chromosome that would produce a female. And in
this country--and we live in a unique culture, quite distinct
from that in India or China--there is no preference toward
males or females in the selection of which sperm to use in
order to create a child. There are all sorts of other issues
there, but a sex imbalance is not one of them.
Senator Brownback. Where are we headed with this, as a
practitioner? Dr. Bruchalski, I'd be interested in your and Dr.
Chicoine's view on, Where are we headed, as a practitioner, in
this field? Are you going to--now and in the future, are you
going to have more tests that parents are going to be able to
have ahead of time? They're going to be in your office, I
presume, asking for these tests. They're going to know about,
apparently, maybe factors--I don't know that they're going to
know about obesity factors, but they're going to know about,
perhaps, potential for certain types of cancer. What do you see
as this thing--as this develops, moving on down the road?
Dr. Bruchalski. As a clinician, I can tell that, over the
last 15 years, we have moved from Down's syndrome to tubal
issues to cystic-fibrosis-carrier issues; and more and more, as
we've been hearing today, have been coming to light.
What I'm afraid of is that our hands, right now, are
being--I don't want to say ``tied,'' but, to a sense, they are
being tied to people who are getting on the Internet for
information, where the data is out there, but it's unclear as
to what understanding couples, as well as physicians, have on
this. And we--when they talk about nondirective counseling,
it's very difficult, at least from what my patients tell us, to
have true nondirectional counseling. And I believe that that
has been--because we are all called--as you asked Dr. Hudson
about sex selection--we are all called to make judgments on
this technology. And in the room, when you close that door and
you begin to talk to parents, you're trying to take data that's
statistical and apply it to their child, to their families.
And I'm very, very cautious as to what the future holds in
regard to this, because we have already gone to preimplantation
genetics. That's already happening. The production
endocrinologists is where that's occurring. I'm a private
practice, bread-and-butter OB/GYN in Northern Virginia, and
what we're finding here is that we have to take incredible
amounts of statistics, and translate that for parents, and make
sure that they are fully aware of what choices they're making
for their child and for their family--not just their immediate,
but for their general family--because of these genetic issues.
It's hard for me to imagine what the future holds, because,
over the last 15 years, we've made--we've now been pushed to
cystic-fibrosis screening before it has come fully--before it
has become fully accurate. And I think the data from statistics
of risk to the actual disease, it's impossible to get. You
can't translate that for the parent. And so nondirective
counseling becomes ``you do your best.'' And I think it's a
noble and an honorable attempt, but I think it becomes harder
and harder, because the questions become more challenging.
Senator Brownback. Dr. Chicoine?
Dr. Chicoine. I guess the concern I have is that so much of
the focus now has gone on to the prenatal testing and the
prenatal diagnosis that my question is, Are we going to lose
the people that are already here? And are we going to lose the
people that will still be born in the future, as well? Are we
not going to be able to provide for them, because so much of
the commerce and the economics is going in that direction, in
not providing care for these people after they're born?
I guess the other question I have is--you mentioned, in
your first statements, about just some of the things that
you've learned from being around a person with Down's syndrome,
and I think there are many things like that, that--and that's
just one disability--many things we can learn from people. And
you mentioned social things. But I think there are a lot of
very scientific things that we have not taken the time to
learn, as well. Why, out of more than 2,500 patients with
Down's syndrome that I've seen, has one had a heart attack?
Whatever it is that has--about people with Down's syndrome that
prevents them from having a heart attack, I want.
[Laughter.]
Dr. Chicoine. Why is it that we see almost no high blood
pressure? I want some of that, too. You know, why do we see
very little asthma? A number of conditions.
So I think there are a number of things about--you know,
we--it's very interesting that we--that so much focus of
genetics is now to limit genetic diversity, which we have been
taught for hundreds of years--at least a hundred years--that
that is the deal. Genetic diversity is what keeps us going. If
we limit genetic diversity, we're going to lose ourselves as a
species. We're going to--and that's how species get lost,
because they don't have genetic diversity. And that, to me, I
think, from a--I think it puts, right here in this arena,
science--I think, to me, that's a very important piece that has
been totally overlooked with regards to at least certain people
with Down's syndrome. And I think that to--and I think
certainly it's a social issue, as well, caring for them, caring
for the people that are here. I think if you look at the number
of studies--you know, I--just pull up Down's syndrome in the
literature--the great majority talks about prenatal care, and
very little about actually caring for the people that are here,
and I think that's a mistake.
Senator Brownback. This has been very informative.
Mr. Kimbrell, a final thought?
Mr. Kimbrell. Yes. I think we do need to look also where
we're going with this. You know, if you look, over the least
couple of decades, and the ``progress''--well, I'll put that in
quotes--that has been made, there are things in the future that
we're already looking at. For example, we saying, What about
genetically engineering children to free them of certain
diseases, certain characteristics, permanently changing their
germ line? We already have the first one of these proposals
before the NIH. And what about cloning embryos, cloning healthy
embryos for infertility or for study? And it seems to me this
is the next line. Right now, we're diagnosing. Now we're at the
preimplantation phase. What about creating the genetic
engineering? So----
Senator Brownback. It might be to save your children. I've
been reading about some, too, where you have a--save your
sibling, where you try to get a genetic match for a child
that's older.
Mr. Kimbrell. Right. That's already happening, to a certain
extent. But it seems to me, as far as policy recommendations,
for goodness sakes, why can't we pass a ban on the germ line,
genetic engineering of human beings? Why can't we pass a ban on
the cloning of human beings and human embryos? Why can't we
pass a ban at least on the patenting and the commercial
patenting of human embryos and human life forms? It seems to me
at least we can do that to stop any next phase that might be
coming in while we begin this public debate that, in many ways,
we started this discussion here today.
And, additionally, I do not think we--many states have
prohibited surrogate motherhood, and there has been
constitutional challenges to that have failed. You do not have
a reproductive right to buy a child. And it seems to me that
reproductive--this has zero to do with destroying a child,
which is still happening in this country with many of the
ethnic communities in this country--I've cited it in my book--
many places where we literally are killing female embryos
because they're female. I don't--as a society, we need to
discuss whether we want to make sure that doesn't happen.
So I think--in many of these eugenic areas, I think
legislation is appropriate. And I would hate to--I hate to
think back over a hundred year history where we failed to take
that action with sterilization, and, all these years later,
would fail again to save those children--who would be the
victims of sex selection or because they were supposedly
disposed to obesity--to save those children, again, I think
would be a tragic error.
Senator Brownback. Thank you all very much for joining us.
The longer I've been around, the more I recognize that each and
every person is unique and beautiful, no matter what their
nature, no matter what they look like, no matter, really,
anything. They're just--they're unique, they're beautiful,
they're precious, they're a child. They're a beautiful gift
from God. And I think we're the poorer when we don't welcome
them in as much as we possibly can.
And it's also striking to me that, of societies, it is a
big measure--what we do for the so-called ``least'' is a real
key measure of what the health and welfare of a society is. And
so we're really wrestling with fundamental questions on this
one right here. I don't want to see us get to a point where we
do lose diversity, because--out of some strange notion that
we've got to have a perfect set here. And you see this
happening, I think, in some other countries, you know, where
you read about India, China--and Israel; I was visiting there,
and they talk about Down's syndrome being a religious
phenomena, that it happens mostly with very observant Jewish
people, and not with others. And you want to know what impact
does that have on a society, if that's the nature?
I do think this is appropriate for us to discuss. I think
we really need to have a big discussion about it, as a nation,
and not be scared of its implications in the overall abortion
debate, but, rather, have a good discussion on it about what it
means. Because we are upon the science right now. It is on us,
and we need to have that good discussion.
I appreciate you opening up the debate about it. I look
forward to working with each of you as we try to craft
appropriate responses to it. And I'm sure we'll be talking more
about this.
Thank you very much for coming. The hearing's adjourned.
[Whereupon, at 3:40 p.m., the hearing was adjourned.]
A P P E N D I X
Prepared Statement of Hon. Frank R. Lautenberg,
U.S. Senator from New Jersey
Mr. Chairman:
Concern for children is obviously an important thing. I have four
children and ten grandchildren. When I cast a vote in this Committee or
on the Senate floor, I think about the effect that vote will have on
them.
So I share your concern about children. But this hearing isn't
really about children. It's another attempt to advance an anti-choice
agenda. That's not the role of this Subcommittee.
I've reviewed the hearings this Subcommittee has held during the
108th Congress.
This Subcommittee has jurisdiction over a number of issues. We've
had 14 hearings on NASA and a sprinkling of hearings on some other
relevant topics.
I object to the 11 hearings on issues that are beyond this
Subcommittee's jurisdiction. Hearings on divorce, abortion, and stem
cell research are thinly-veiled attempts to push anti-abortion views.
It's telling that the panels are always loaded with anti-choice
witnesses to prevent a fair debate about some of very serious topics.
These 11 hearings promote a certain set of cultural values. Don't
misunderstand me: I have no problem with holding those values, or
voting in a way that is consistent with them. That is your right.
But I do object to hijacking this Subcommittee, at taxpayer
expense, to push an agenda that properly falls under the purview of the
Judiciary and HELP Committees.
If this Subcommittee is going to be used in this fashion, then I
propose that we hold hearings and get social scientists here to testify
on the impacts that long-term joblessness has on families. We can hold
hearings to determine whether not fully funding post-natal care, Head
Start, and No Child Left Behind is detrimental to children.
Thank you, Mr. Chairman.
Subcommittee on Science, Technology, and Space
Hearings in the 108th Congress
------------------------------------------------------------------------
Subcommittee Jurisdiction Number of Hearings
------------------------------------------------------------------------
National Aeronautic and Space Administration 14
National Oceanic and Atmospheric Administration 1
National Science Foundation 0
National Institute of Standards and Technology 0
Office of Science and Technology Policy 1
U.S. Fire Administration 0
Federal R&D Funding 1
Internet 0
Earthquake Research Programs 1
Encryption Technology 0
International Science and Technology 1
------------------------------------------------------------------------
TOTAL 19
------------------------------------------------------------------------
------------------------------------------------------------------------
Extra Jurisdictional Number of Hearings
------------------------------------------------------------------------
Anti Abortion Agenda 7
Media Indecency & Violence 2
Marriage Promotion 1
Science Behind Pornography Addiction 1
A New Kind of Science 1
------------------------------------------------------------------------
TOTAL 12
------------------------------------------------------------------------
Written Questions Submitted by Hon. Frank R. Lautenberg to the
Witnesses
For Andrew Kimbrell
Background. Andrew Kimbrell is the Director for the International
Center for Technology Assessment (CTA). CTA is a non-profit that takes
a negative and generally skeptical view of technology. Kimbrell writes
that technology is ``among the most powerful, and often destructive,
agents of social change in modern times.''
Question. Do you agree that there are situations where genetic
testing can be positive, such as in families where there is a high risk
for a certain disease? Wouldn't a negative test for a birth defect--
especially one that is strongly predictive--provide an enormous sense
of relief for the expecting parents?
For John Bruchalski
Background. Dr. John Bruchalski is the director of the Tepeyac
Family Center in Fairfax, Virginia, an obstetrical and gynecological
facility that ``combines the best of modern medicine with the healing
presence of Jesus Christ under the medical-moral guidance of the
Catholic Church.''
He states in his testimony that the data used for prenatal testing
is ``more confusing than clarifying and . . . that the conversation
generated may cause irreparable damage in the parent child bond with
implications of how that family views individuals with disabilities, or
worse, how they view those who have had `abnormal testing' but are
completely normal human beings.''
Question 1. It sounds to me like you are suggesting that prenatal
genetic testing should not be done--is that your view? Shouldn't this
be a decision that a woman makes with her doctor and not one that
politicians make for her?
Background. Dr. Bruchalski has affiliations with the ``Couple to
Couple'' league, and the ``Family of the Americas,'' both organizations
that oppose the use of any form of birth control. In addition,he is a
board member for the Abortion Breast Cancer Link (ABC) that suggests
there is a link between abortion and incidence of breast cancer. Such a
correlation is false.
ABC's web page states:
It cannot be said that all women who have breast cancer have
had abortions. Similarly, not all women who have had abortions
will get breast cancer. Nevertheless, abortion is the most
preventable risk factor for breast cancer.
Question 2. Dr. Burchalski you are on the board of a group that has
tried to line abortion and breast cancer. In light of the fact that the
National Cancer Institute (NCI) contends there is no association
between abortion and breast cancer, why do you continue to insist that
such a link exists?
For Brian Chicoine, M.D.
Background. Dr. Brian Chicoine is the Medical Director of the
center and on the Family Practice faculty at Lutheran General Hospital.
Dr. Chicoine specializes in the area of adult Down Syndrome and has
been with the center since its inception in 1992. Brownback has called
Dr. Chicoine in to try to appeal to the disability community.
Question. Many prenatal tests can identify genetic disabilities
such as Down Syndrome midway through pregnancy. In your work have you
been able to use this knowledge in a positive way? For example, can you
work with expecting mothers to educate and train them on how to
effectively raise their child or put them in touch with parents that
have developmentally disabled child to help them cope with some of the
challenges that lie ahead?
For Kathy Hudson
Background. Kathy Hudson is the witness called to testify by the
Democratic side. She should be friendly to our point of view.
Genetic tests provide information that can provide a diagnosis and
guide treatment decisions, prognostic information that can help tell
the course of a disease, or probabilistic predictive information about
the future risk of disease. Some the birth defects that can be detected
by prenatal diagnostic tests include: cystic fibrosis, sickle cell
disease or Tay-Sachs disease; Muscular Dystrophy; Down Syndrome; and
certain birth defects, such as spina bifida.
Question. Isn't it is unfair to layer guilt and shame on
individuals honestly trying to make decisions that are based on the
quality of life for the individual and the family--after all these
decisions are not simple or entered into lightly?