[Senate Hearing 109-707]
[From the U.S. Government Publishing Office]
S. Hrg. 109-707
AT HOME DNA TESTS: MARKETING SCAM OR MEDICAL BREAKTHROUGH
=======================================================================
HEARING
before the
SPECIAL COMMITTEE ON AGING
UNITED STATES SENATE
ONE HUNDRED NINTH CONGRESS
SECOND SESSION
__________
WASHINGTON, DC
__________
JULY 27, 2006
__________
Serial No. 109-29
Printed for the use of the Special Committee on Aging
_____
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SPECIAL COMMITTEE ON AGING
GORDON SMITH, Oregon, Chairman
RICHARD SHELBY, Alabama HERB KOHL, Wisconsin
SUSAN COLLINS, Maine JAMES M. JEFFORDS, Vermont
JAMES M. TALENT, Missouri RON WYDEN, Oregon
ELIZABETH DOLE, North Carolina BLANCHE L. LINCOLN, Arkansas
MEL MARTINEZ, Florida EVAN BAYH, Indiana
LARRY E. CRAIG, Idaho THOMAS R. CARPER, Delaware
RICK SANTORUM, Pennsylvania BILL NELSON, Florida
CONRAD BURNS, Montana HILLARY RODHAM CLINTON, New York
LAMAR ALEXANDER, Tennessee KEN SALAZAR, Colorado
JIM DEMINT, South Carolina
Catherine Finley, Staff Director
Julie Cohen, Ranking Member Staff Director
(ii)
C O N T E N T S
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Page
Opening Statement of Senator Gordon Smith........................ 1
Panel I
Gregory Kutz, managing director, Forensic Audits and Special
Investigations, U.S. Government Accountability Officer,
Washington, DC................................................. 3
Kathy Hudson, director, Genetics and Public Policy Center, and
associate professor, Berman Bioethics Institute, Institute of
Genetic Medicine and Department of Pediatrics, Johns Hopkins
University, Washington, DC..................................... 30
Panel II
Rosalynn Gill-Garrison, chief science officer, Sciona, Boulder,
CO............................................................. 47
Carol R. Reed, M.D., senior vice president and chief medical
officer, Clinical Data, Inc.,.................................. 57
Kristopher King, chief executive officer, Suracell, Inc.,
Montclair, NJ.................................................. 61
Narasimhan Ramarathnam, president, Genox Corporation, Baltimore,
MD............................................................. 86
Howard Coleman, founder and chief executive officer, Genelex
Corporation, Seattle, WA....................................... 92
Panel III
Steven Gutman, M.D., director, Office of In Vitro Diagnostic
Device Evaluation and Safety, Center for Devices and
Radiological Health, Food, and Drug Administration, U.S.
Department of Health and Human Services, Rockville, MD......... 100
Thomas Hamilton, director, Survey and Certification Group, Center
for Medicaid and State Operations, Centers for Medicare and
Medicaid Services, U.S. Department of Health and Human
Services, Washington, DC....................................... 107
APPENDIX
Prepared Statement of Senator Ken Salazar........................ 123
Letters from Lepon, Holzworth & Kato............................. 125
Additional Information from Sciona............................... 131
Sciona Reponse to GAO Report 06-977T............................. 212
(iii)
AT-HOME DNA TESTS: MARKETING SCAM OR MEDICAL BREAKTHROUGH?
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THURSDAY, JULY 27, 2006
U.S. Senate,
Special Committee on Aging,
Washington, DC.
The Committee met, pursuant to notice, at 10:03 a.m., in
room SD-106, Dirksen Senate Office Building, Hon. Gordon H.
Smith (chairman of the committee) presiding.
Present: Senators Smith and Talent.
OPENING STATEMENT OF SENATOR GORDON H. SMITH, CHAIRMAN
The Chairman. Good morning, ladies and gentlemen. We
welcome you to this hearing of the U.S. Senate Special
Committee on Aging. This morning's topic is ``At Home DNA
Tests: Marketing Scam or Medical Breakthrough.''
We will be exploring the regulatory and scientific issues
relating to direct-to-consumer genetic tests. Genetic science
holds great promise, and with that promise a hope for a better
understanding of human health and disease. Recent advances in
genetic science have fueled the growth of a direct-to-consumer
genetic testing industry. With a few clicks on the Internet,
consumers can now purchase at-home tests that claim to predict
propensities for a myriad of health conditions, including
Alzheimer's, cancer, diabetes and arthritis.
However, as reported just last month in the Washington
Post, these home tests can shock and misinform consumers. The
American College of Medical Genetics has advised the public to
avoid home DNA tests, which it has called, quote, ``potentially
harmful,'' citing the possibility of inappropriate test
utilization and misinterpretation of test results and a lack of
follow-up.
Just today, the Federal Trade Commission, in conjunction
with the Food and Drug Administration and the Centers for
Disease Control, have released a consumer alert cautioning
consumers that, quote, ``Some of these tests lack scientific
validity and others provide medical results that are meaningful
only in the context of a full medical evaluation,'' end of
quote.
These concerns give rise to questions about the oversight
of the tests and the science behind them. The sales companies
and testing laboratories currently operate apparently,
unfortunately, in a regulatory abyss between jurisdictions of
the FTC, the FDA and the CMS. Further, unclear direction from
the agencies about their jurisdiction, a 6-year delay by the
administration in promulgating a genetics testing specialty
rule under the Clinical Laboratory Improvement Amendments and
regulatory loopholes have created an environment ripe for
consumer fraud and abuse.
It is my concern about that environment that is ripe for
consumer fraud and abuse which has necessitated this hearing
today. This Committee has had a long history of trying to
especially protect the senior citizens of this country against
those who would perpetrate on them things which have less than
value.
I have numerous questions regarding the marketing practices
of the companies selling these tests to consumers, as well as
the clinical practices of the laboratories performing the
tests. I also have serious concerns about the tests' true
predictive value and what is in many instances the lack of a
health care professional's involvement to help consumers
determine the necessity of testing and the meaning of the test
results. I would like some level of assurance that the tests
are safe, accurate and useful, and that there are basic privacy
protections in place.
The expansion of genetic testing services also raises
important ethical and legal questions about how these tests
should be administered and what level of protection is
necessary for sensitive medical and personal information
provided by consumers when ordering these tests. It is my hope
that through today's hearing, we will find answers to these
questions.
This morning, we will hear from the Government
Accountability Office about the results of their year-long
investigation into the direct-to-consumer genetic testing
industry. We also will hear from industry stakeholders and
regulatory agencies charged with oversight of genetic testing.
I am deeply disturbed by GAO's finding that consumers are being
misled and exploited, and I am shocked to learn how little the
Federal Government is doing to help consumers make informed
decisions about the legitimacy of these tests.
Because of the nature of today's hearing, the Committee
will be receiving all testimony under oath. I will administer
the oath to each panel as a group and ask all of our witnesses
to please be sworn in and to promise to tell the truth. After I
administer the oath, I would ask that the panel witnesses each,
in turn, one after another, individually acknowledge their
affirmation to the oath by stating ``I do.'' With that, I would
ask the first panel of witnesses to stand and raise your right
hands.
Do you promise to tell the truth, the whole truth, so help
you God?
Mr. Kutz. I do.
Dr. Hudson. I do.
The Chairman. Our first panel includes Mr. Greg Kutz, who
is the managing director of Forensic Audits and Special
Investigations at the Government Accountability Office. Mr.
Kutz and his team have spent the past year canvassing the
direct-to-consumer genetic testing industry, purchasing test
kits, obtaining test results, and consulting with experts and
conducting site visits at the companies and laboratories
involved in the industry. I commend Mr. Kutz and his team for
their fine work, and we very much look forward to hearing your
investigative results.
He will be followed by Kathy Hudson, who is the director of
the Genetics and Public Policy Center at Johns Hopkins
University. She will provide her expert opinion regarding
various ethical, legal and social concerns relating to direct-
to-consumer genetic testing.
I appreciate both of you being with us. Greg, why don't we
start with you?
STATEMENT OF GREGORY KUTZ, MANAGING DIRECTOR, FORENSIC AUDITS
AND SPECIAL INVESTIGATIONS, U.S. GOVERNMENT ACCOUNTABILITY
OFFICE, WASHINGTON, DC
Mr. Kutz. Mr. Chairman, thank you for the opportunity to
discuss genetic testing. Our investigation relates specifically
to certain genetic test kits sold directly to consumers on the
Internet. The companies marketing these kits claim to provide
consumers with lifestyle programs based on their genetically
determined health risks. You asked us to investigate the
legitimacy of these claims.
My testimony has two parts: first, how we conducted our
investigation, and, second, our key findings. First, we
investigated four websites selling what are referred to as
nutrigenetic tests. These sites claimed that their tests would
analyze between 4 and 19 genes, and provide personalized
lifestyle recommendations. The cost of the kits that we
purchased ranged from $89 to $395. We purchased several of the
same kits from each website so that we would have a variety of
results to analyze.
To test the legitimacy of these products, we created 14
fictitious consumers. As shown on the poster board, we used DNA
from a female for 12 of these consumers and DNA from a male for
2 of the consumers. For all 14 kits, we submitted cheek swabs,
12 from a 9-month-old female and 2 from a 48-year-old male. In
addition to the cheek swab, one company required us to submit a
urine sample. We also sent in cheek swabs from a dog, a cat and
several blanks, which were all returned to us because they
could not be processed.
For each fictitious consumer, we filled out a
questionnaire, pretending to be adult men and women of various
ages, weights and different lifestyles. The questionnaires
asked us about exercise, smoking, diet and vitamins taken, but
did not ask us about any medical conditions we had or
medications that we were taking. In assessing the results of
the 14 fictitious consumers, we consulted with experts
primarily in the areas of genetics and nutrition. We also
interviewed representatives from the four websites and two labs
processing the results.
Now that I have set up what we did, let me go on to my
second point, our key findings. The poster board shows the
medical conditions predicted for the 14 fictitious consumers
based on the DNA that we submitted. As you can see, our
consumers are at risk of developing osteoporosis, cancer, type
2 diabetes, heart disease and brain aging. Although all four
websites said the kits were not intended to diagnose a disease,
all 14 consumers were told they were at risk of developing
these very serious medical conditions.
The primary problem here is that according to the experts,
none of these predictions can be medically proven at this time.
Research related to the genetic connection to the development
of these conditions is at a very early stage, with many issues
to be resolved.
The secondary problem is that the predictions use ambiguous
language that renders them meaningless. For example, several
results said the consumer may be at increased risk of
developing heart disease. In other words, you might have an
increased chance of developing heart disease. These predictions
could apply to any human submitting DNA.
Websites 1 and 4 also recommended supplements, supposedly
based on a consumer's unique DNA. However, our testing showed
that these supplements are, in fact, not unique. For example,
for website 1, two of our fictitious consumers were recommended
the very same unique supplement. However, one of the consumers
was actually the female and the other was actually the male.
Further, the next poster board shows that the supplement
from website 1 contained the same ingredients, although in
different amounts, as a multivitamin that we purchased at Rite-
Aid. Look at the cost comparison: $1,200 per year for the
supplement compared to $35 a year for the Rite-Aid
multivitamin.
Although not identical, the expert nutritionists that we
spoke to said that the costly supplement and the Rite-Aid
vitamin would likely provide the same nutritional benefits for
most people. Also, they expressed concern about the amount of
vitamin A, B-6 and iron in the supplements that could be
harmful.
Finally, the results from websites 1, 2 and 3 promise
recommendations based on a consumer's unique genetic profile.
However, our test shows that we could have created any
lifestyle description and the results would simply echo the
data submitted. For example, we submitted the same DNA for nine
fictitious consumers and received advice that varied, clearly
showing that the results are based on the questionnaire and not
the DNA.
In conclusion, in a best-case scenario the test kits and
supplements that we investigated provide little or no value to
consumers. In a worst-case scenario, the test results could
frighten a consumer into thinking that they will develop
cancer, osteoporosis, heart disease, or brain aging. The fear
could also cause them to purchase supplements at outrageous
prices.
I understand that there is great potential for genetic
testing and I don't want the results of our investigation to
cast any shadows on the progress made to date. However, for the
products that we tested, I want to send a message to consumers
across the country: buyer beware. Before buying any of these
products, consumers should not only think twice, but should
consult with their doctor.
Mr. Chairman, this ends my statement. I look forward to
your questions.
[The prepared statement of Mr. Kutz follows:]
[GRAPHICS NOT AVAILABLE IN TIFF FORMAT]
The Chairman. Thank you very much, Greg.
Kathy Hudson.
STATEMENT OF KATHY HUDSON, DIRECTOR, GENETICS AND PUBLIC POLICY
CENTER, AND ASSOCIATE PROFESSOR, BERMAN BIOETHICS INSTITUTE,
INSTITUTE OF GENETIC MEDICINE AND DEPARTMENT OF PEDIATRICS,
JOHNS HOPKINS UNIVERSITY, WASHINGTON, DC
Dr. Hudson. Thank you, Mr. Chairman, and thank you for
inviting me to testify today and for focusing your attention on
this important topic that has consequences for people of all
ages.
I would like to begin by saying unequivocally that genetic
testing today is having a documented beneficial impact on
clinical care and holds enormous promise for future
improvements. Today, there are genetic tests clinically
available for nearly 1,000 different diseases and hundreds more
in development.
Genetic tests provide information, information that can be
used to diagnose disease, to predict risk of future disease,
and to guide decisions about whether to undergo a medical
procedure or to take a particular dose of drug or a particular
drug. Genetic tests lead to critical health and life decisions,
and therefore it is imperative that this information be
accurate and reliable and relevant to an individual's health.
While many genetic tests available today are of
extraordinary quality, inadequacies in the current oversight of
genetic testing identified by the GAO and studies by my Center
threaten more than the public's pocketbook; they threaten the
public's health. For a genetic test to be of high quality, it
must be analytically valid as well as clinically valid.
Analytic validity refers to a laboratory's ability to get the
right answer reliably over time, to detect a genetic variation
when it is present, and, importantly, not to detect it when it
is not present. Clinical validity refers to the relationship of
a genetic mutation to a specific health outcome.
Current regulations fail to ensure either analytic or
clinical validity of genetic tests. The responsibility for
ensuring the analytic validity of genetic tests lies with the
Centers for Medicare and Medicaid Services, CMS, as you
mentioned, which is responsible for implementing the Clinical
Laboratory Improvement Amendments of 1988.
In enacting CLIA, Congress believed that proficiency
testing, or external validation of a laboratory's performance,
was, and I quote, ``testing should be the central element in
determining a laboratory's competence, since it purports to
measure actual test outcomes rather than merely gauging the
potential for accurate outcomes.'' Unfortunately, 18 years
after enacting the laboratory amendments, problems persist and
are particularly acute in the genetic testing arena.
Despite the recommendations of government advisory
committees, CMS has failed to create specific proficiency
testing standards for genetic tests. While some laboratories
maintain accuracy of their testing procedures by voluntarily
enrolling in programs for proficiency testing, others do not.
Immediate action by CMS is urgently needed to create
proficiency testing standards for genetics under CLIA. In
November of last year, my center called on CMS to issue these
regulations expeditiously, and subsequently nearly a hundred
groups, including patients, health care providers, industry and
women's health advocates, have added their voices and called on
CMS to act.
The GAO reports real errors occurring in genetic testing
laboratories. The GAO submitted a DNA sample from a single
individual for testing under different assumed identities. Even
though the DNA was identical, the test results were not. This
should disturb us all.
Testing errors have real consequences for real people, and
enhancements in CLIA could make a real difference. A recent
survey by my center showed that higher levels of participation
in a proficiency testing program is correlated with a reduction
in errors. So we need to increase proficiency testing and we
need to enhance CLIA.
Even if CLIA were to operate perfectly, there would still
be problems, and that is because CLIA is focused on analytic
validity and laboratory quality and not on the clinical
validity. What is the relationship between the DNA mutation and
health? Does it cause cancer, does it cause diabetes, et
cetera?
Currently, there is no government agency with clear
responsibility to ensure clinical validity of most tests.
Therefore, each laboratory director makes an independent
decision regarding whether tests have sufficient validity to be
offered to the public. As I said, many laboratories are of
extraordinarily high quality and offer only tests for which
there is broad scientific agreement regarding the clinical
validity. But several reports, notably the GAO report, indicate
that laboratories are offering tests to the public in the
absence of sufficient evidence of their clinical validity.
Moreover, because there is no requirement that laboratories
disclose the scientific basis for their test, it is not
possible for consumers to determine whether a test is bogus or
based in real science.
Some have recommended that the Food and Drug Administration
step in here and ensure the clinical validity of some or all
genetic tests. Currently, FDA regulates only a small handful of
these tests, those that are marketed as test kits. FDA has sent
very mixed signals over the years regarding its jurisdiction
and willingness to regulate home brews.
As a result, we have a two-path system for regulation of
genetic tests. Those companies that have invested time, money
and effort to develop test kits face competition from clinical
laboratories using home brews. This uneven regulatory playing
field provides a disincentive for the development of test kits
with clear clinical validity.
In conclusion, quality genetic testing requires good tests
and competent laboratories. Current oversight assures neither.
I want to applaud you, Mr. Chairman and the Committee, for
taking the first steps in investigating questionable oversight
and questionable genetic tests, and I urge you to continue to
provide leadership in this area.
Thank you.
[The prepared statement of Ms. Hudson follows:]
[GRAPHICS NOT AVAILABLE IN TIFF FORMAT]
The Chairman. Thank you, Kathy.
It seems to me that the whole thing speaks for itself when
GAO submits four samples from one person and gets back four
different results. Is that what happened?
Mr. Kutz. Yes.
The Chairman. I think the point you are making is between
actual and clinical validity. In order to really be valuable,
genetic testing has to include environmental understanding of a
person's--you know, how they are living, where they are living,
what their habits are, all of the factors that go into making
up a diagnosis of any kind of genetic impact to a person's
health and their propensity to a disease.
Is that basically what you are saying?
Dr. Hudson. Yes, and in order to document the correlation
between a specific genetic mutation or variant and a specific
health outcome, it really requires rigorous studies following
many people who have the mutation and don't have the mutation,
and making a direct correlation between their genes and their
health outcomes.
The Chairman. The clinics have to have valid procedures
that are scientifically verifiable, and then it has to be
followed up with physicians to take a holistic approach to it
or else it really isn't very valid.
Dr. Hudson. That is right, and there is enormous promise.
In the wake of the Human Genome Project, we are trying to
unravel the genetic contributions and environmental
contributions to common, complex diseases that affect many,
many Americans--heart disease, diabetes, and many, many forms
of cancer. One of my concerns is that the effort to move
genetics into clinical practice and to improve human health is
going to be tainted by the ability of bad actors to operate in
this area.
The Chairman. Home kits just are not going to do it. It
sounds to me from your opinion, they are simply going to erode
credibility in the promise of the genome project and genetics
as a part of understanding fully health care and disease.
Dr. Hudson. If sufficient regulations were in place to
assure the analytic validity of tests and the clinical validity
of tests, I think then we could really have a conversation
about whether it is appropriate for consumers to access some
tests directly without a health care provider's intervention.
For example, if there was a test that would tell me which
over-the-counter pain medication would be most effective for
me, do I really need to go to a physician to get that
information? All genetic tests are not created equal, and so we
need to have a nuanced approach to whether a health care
provider's intervention is required always, sometimes or never.
The Chairman. We don't have that regulatory structure now?
Dr. Hudson. We don't have that regulatory structure as a
baseline to assure quality today.
The Chairman. Greg, I wonder if for the record you can
identify the companies referred to as websites 1 through 4.
Mr. Kutz. Sure. Website 1 was Market America and they were
marketing via Internet distributor Martin Marketing. Website 2
was Genelex, website 3 was Sciona, and website 4 was Suracell.
The Chairman. The laboratories?
Mr. Kutz. The laboratory was Genaissance that processed
most of the kits, but also there was SeraCare Laboratories that
website number 4 used, we believe, for some of our later tests.
Then Genox Corp. processed our urine sample, we believe.
The Chairman. How about the DNA donors?
Mr. Kutz. One was a 48-year-old male. He is one of our
special agents. The 9-month-old female was my daughter, Katie.
The Chairman. I understand your investigations also
uncovered some difficulties that Sciona encountered when trying
to sell these genetic tests in the United Kingdom. Can you
share with us what you found?
Mr. Kutz. Yes. There were consumer groups in the United
Kingdom that raised concerns about the validity and the
usefulness of similar products being marketed over there. Also
they put together a panel of experts similar to the people we
consulted with in looking at our 14 fictitious consumers and
they concluded that the kits being marketed there were of no
value to consumers. The company stopped selling them over there
and has come to the United States and is marketing them here.
The Chairman. So if there are of no value to the British,
are they of any value to Americans?
Mr. Kutz. Well, as I mentioned in my closing, I mean our
view is certainly that in a best-case scenario they are of
little or no value. Worst-case scenario--and I will use the
supplements; $1,200 per year for supplements that you could buy
at a grocery store for $35 a year is less than no value. It is
a rip-off.
The Chairman. Did you send your samples directly to labs?
Mr. Kutz. Some of them were sent directly to labs. Some
were sent to the websites who forward them to the labs. So the
return envelopes in the kits varied as to where they went.
The Chairman. I understand that the urine sample that was
submitted was a synthetic sample. Did the lab identify it as
synthetic?
Mr. Kutz. It was synthetic urine. It was something called
Quick Fix, which is used to beat drug tests, and there is no
evidence that the lab identified it as fake urine, basically.
The Chairman. So they made no conclusion as to it?
Mr. Kutz. They did make--I mean, it was part of the kit.
They tested the cheek swab and the urine.
The Chairman. So they tested it as urine?
Mr. Kutz. They tested two, yes. They tested urine and a
cheek swab, and then we got the results back. There were no
indications that came back to us----
The Chairman. They did not discern that it was synthetic?
Mr. Kutz. Not that we can tell, no.
The Chairman. Are any of the DNA donors--obviously, your
daughter is pretty young and I don't know that she would be
worried. But the 48-year-old man--is he worried at all about
conditions for which they were diagnosed in these tests?
Mr. Kutz. We are worried about him for other reasons,
Senator. [Laughter.]
But for purposes of the tests that were actually made of
him, no, I think he knows and we know based on the experts that
we have spoken to that I am not worried about my daughter and I
don't think he is worried about the results there.
The Chairman. It is my understanding that in the course of
the investigation the GAO was contacted by a nutritionist after
these tests and they tried to sell you the products of this
company.
Mr. Kutz. They tried to sell us on a diet, a nutritional
diet that would supposedly help us with the problems that were
identified. Within that diet, it was another way to market the
supplements. If you actually read through the diet, it looked
like some very good dietary suggestions, quite honestly, but
within those were also some marketing of specific supplements
that, you know, if you take these, according to this, it would
help you with whatever gene problems that they identified for
you.
The Chairman. It is my understanding that Sciona has a
disclaimer on its website asserting, quote, ``its unlimited
rights to consumers' information.'' That, for me, raises a real
privacy issue about sensitive data, even if it may be
inaccurate data, that is out there in cyberspace.
So I am wondering based on your investigations, what do
consumers need to do know about companies' privacy policies and
the potential of sending out this kind of information about
themselves.
Mr. Kutz. Well, let's use the example--you just asked me
the question about the dietitian who somehow got our results.
We don't believe she worked for the company. Somehow, she got
the results from one of our fictitious consumers and made a
call to us. So it is unclear. I mean, they all made
representations, all four websites, that our DNA would be
destroyed actually after the results were sent to us and that
they would protect all of our other information.
The Chairman. How would the dietitian have known it?
Mr. Kutz. Well, we don't know. There is no way to tell
exactly whether it was a subcontractor or what other
relationship she had to that company.
The Chairman. But it raises the question that information
is out there for anybody to see?
Mr. Kutz. Yes, that would raise a question.
The Chairman. In your opinion, what is the most pressing
public health threat posed by inadequacies in current oversight
in genetic testing?
Mr. Kutz. Well, I think again there are two parts to this.
There is the actual part of the kits and whether or not people
should take them, whether they provide value. Certainly,
telling someone to stop smoking, to reduce caffeine intake are
all great ideas, but you don't really need to buy a kit to
actually come up with those.
So I think more significant is the $1,200 and $1,800-a-year
supplements that were marketed to us that were linked directly
to the results of our genetic tests which said we were at risk
of having these very serious medical conditions sometime in the
future, and at least implying that if you took these
supplements, which again are very, very expensive, this somehow
could help you so you would be able to prevent getting these
medical conditions.
The Chairman. So at the end of the day, your ultimate
conclusion is that these companies are, in fact, misleading
consumers?
Mr. Kutz. Absolutely, yes.
The Chairman. No question about it?
Mr. Kutz. No.
The Chairman. Senator Talent.
Senator Talent. Mr. Chairman, I want to thank you for
holding this hearing. I am not going to keep this panel too
long because I know we have two more coming.
Let me just ask a question that came to mind as soon as the
Chairman scheduled this hearing. Why hasn't this industry been
better regulated and why has this been allowed to happen? I
think Congress passed the underlying legislation in the late
1980's.
Dr. Hudson. For the regulations of the clinical
laboratories and whether or not they can get the right answer
reliably over time, the Clinical Laboratory Improvement
Amendments are the relevant statute.
Senator Talent. My understanding is that they give the
administrative agencies adequate authority to regulate. Is
there a statutory gap here that you see?
Dr. Hudson. I don't believe that there is necessarily a
statutory gap. There is a regulatory gap. Over the years, CMS
has created a number of specialty areas for different types of
tests--microbiology, toxicology, immunology, et cetera, et
cetera, et cetera. When you create those specialty areas, then
that comes with certain standards that people who are testing
in that area have to meet.
Despite the fact that genetics is arguably one the most
rapidly growing areas of diagnostics and has such great promise
and is complicated, CMS has failed to create a specialty area
for genetics. In 2000, they said they were thinking seriously
about it, and now here we are 6 years later and we still don't
have a proposed regulation. It is inertia.
Senator Talent. Does it really make sense to run these
tests through mail order? To me, this seems to be a pretty
serious area. If properly regulated, do you think this industry
serves an important purpose and we can allow this to continue?
Or is it just too complicated to do this way?
Dr. Hudson. I think that there are some genetic tests for
complicated, serious medical conditions where a health care
provider's intervention is certainly beneficial, if not
required. But the notion that all genetic tests are equally
complicated and equally serious is probably not the case, and
so we need to be a little nuanced about whether or not this is
an all-or-none proposition.
We also have a problem with whether or not health care
providers are adequately trained and prepared to be able to
interpret this information for consumers. Ironically, in regard
to the question about privacy, a number of these companies
advertise privacy as a selling point. You can do your genetic
testing in the privacy of your own home and you don't have to
share that information.
But the bottom line is if somebody actually has a mutation
that increases their risk for disease or they actually have a
disease today, what do we want them to do? We want them to walk
directly into their health care provider's office and get
medical attention. So the whole notion that this is private is
sort of a thin veneer because ultimately that information will
be in the medical record and protected by HIPAA and other laws.
Senator Talent. If adults are aware of what they are
receiving and still decide they would like to purchase for
whatever reason. I will not prevent anyone from doing so. But
it seems to me that to the extent this has real medical value
in identifying people who are at high risk, you would think
that the profession would have begun to incorporate it into
some regular testing or they would recommend it for certain
people who have other characteristics that might make them
high-risk.
Do you understand what I am saying?
Dr. Hudson. Yes, yes, absolutely.
Senator Talent. Well, much of this refers to what the other
two panels are going to testify to, Mr. Chairman. I appreciate
your holding this hearing. Thank you.
The Chairman. Thank you, Senator Talent.
A couple of follow-ups. Mr. Kutz, one of the companies in
your report, Suracell, has represented to this Committee that
they do not conduct direct sales to consumers. When pressed on
the point about sales from Suracell's website, they modified
their response and indicated that when consumers purchase test
kits from Suracell's website, they are assigned a physician in
their area based on their zip code. When asked point-blank if a
consumer can purchase a test kit without the involvement of a
physician, Suracell's response was no. I note in their written
statement to the Committee, Suracell has further modified its
response and acknowledged that 28 percent of its sales are
direct to consumers.
Mr. Kutz, my question to you is with respect to the tests
that GAO purchased from Suracell, how many kits did you
purchase and for how many of those tests did you have to go
through a doctor's office to obtain either the test kits or
test results?
Mr. Kutz. We purchased three and there were no doctors
involved in consulting with us at any stage that we were aware
of, at least. If they were assigned to our three cases, they
never contacted us.
The Chairman. You weren't aware of it?
Mr. Kutz. No.
The Chairman. Until this morning--and I say this morning
because Sciona has just changed its website--Sciona advertised
that its lab, which we know to be Genaissance, is CLA-
certified. I presume that to mean CLIA, or C-L-I-A. Your
investigation reveals some interesting facts about Genaissance
CLIA certification as it pertains to nutrigenetic tests.
Could you please tell the Committee what your investigation
revealed?
Mr. Kutz. I am not sure we know exactly what their CLIA
certification is. We did not challenge that they were CLIA-
certified. The actual lab that did the urine tests had
represented to us that they were not CLIA-certified. So I don't
believe that Sciona had represented that they were not CLIA-
certified. They may not be CLIA-certified for the specific
tests that we did and that may be the issue you are talking
about.
The Chairman. Are you aware that Genaissance refused CLIA
recertification inspection for these very tests?
Mr. Kutz. I was aware of that, yes.
The Chairman. It probably indicates they are not certified.
Thank you both very much. We appreciate your work and your
expertise in helping this Committee to understand this very
real issue of consumer, buyer beware.
We will now call up our second panel. On our second panel,
we have representatives from several of the companies
referenced in today's GAO testimony. Ms. Rosalynn Gill-Garrison
is the chief science officer for Sciona. Dr. Carol Reed is
senior vice president and chief medical officer for Genaissance
Pharmaceuticals. Mr. Kristopher King is the CEO of Suracell.
Dr. Ramarathnam is president of Genex Corporation. Mr. Howard
Coleman is CEO of Genelex Corporation.
If you will each stand and raise your right hand, do you
promise that the testimony you are about to give will be the
truth, the whole truth and nothing but the truth, so help you
God?
Individually. Rosalynn?
Ms. Gill-Garrison. I do.
Dr. Reed. I do.
Mr. King. I do.
Mr. Ramarathnam. I do.
Mr. Coleman. I do.
The Chairman. Thank you very much.
Rosalynn Gill-Garrison, we will start with you.
STATEMENT OF ROSALYNN GILL-GARRISON, CHIEF SCIENCE OFFICER,
SCIONA, BOULDER, CO
Ms. Gill-Garrison. Thank you. I would like to thank the
Committee and Senator Smith for the opportunity to appear
before you today. My name is Rosalynn Gill-Garrison and I am
the chief science officer for Sciona, Inc. Sciona was formed
with the goal of bringing the benefits of the Human Genome
Project directly to the consumer. The initial meeting that led
to the formation of our company was actually held on the day
that President Bill Clinton and British Prime Minister Tony
Blair announced that the first draft of the Human Genome
Project was now complete.
At this initial meeting, the cornerstones of the philosophy
of Sciona were laid down that the knowledge resulting from this
enormous public and private investment should be used to
benefit the average person on the street and that each member
of the public should be able to learn directly about his or her
own genetic information. The goal of our company is to use this
information to provide health care information which is focused
on health and wellness rather than the treatment of illness,
and it is the duty of our company to deliver this information
in an ethical and responsible manner.
Sciona decided to focus on the growing body of knowledge of
the impact of genetic variation on response to dietary and
environmental factors. This was a deliberate decision to focus
on health- and wellness-based applications and to focus in an
area in which there was a significant body of research that
substantiated the links between dietary and environmental
factors and genetics.
Sciona's nutritional advisory report which we have actually
provided for participants in this conference includes
information on 19 genes, 24 variations in these genes, and 18
particular nutritional and lifestyle factors. The report has
been written in language that is intended to be easily
understood by the consumer. However, technical information such
as the exact genetic variation has been included so that
individuals or health care practitioners can refer directly to
this genetic information, if required.
The report describes how the interaction of these genes and
nutritional factors can play a role in different areas of
health. Sciona does not sell any products in conjunction with
this report. These reports do not diagnose any disease, but are
focused on nutritional and lifestyle status to promote general
health and wellness.
The Sciona nutritional lifestyle information service has
been developed through an extensive survey of peer-reviewed
literature from the fields of nutrition research, biochemistry,
epidemiology and molecular biology. In order to build further
upon the knowledge available in the public domain, Sciona has
actually invested in collaborative research with academic
groups interested in exploring gene-diet and gene-environmental
relationships.
The laboratory work for Sciona is outsourced and the
company maintains close scrutiny on the results and performance
of the laboratory testing supplier, which is Clinical Data,
Inc. Each batch of samples which are run by the supplier
includes a set of blinded controls supplied by Sciona for
processing. The laboratory is not aware of the nature of the
blinded samples, and so when the results are supplied back to
Sciona, these blinded controls are used as a measure of
reproducability and reliability of the laboratory results.
Pass/fail criteria have been set in which both Clinical Data
internal controls and Sciona blinded controls must be in
concordance before any set of results is released for report
production.
So in conclusion, Sciona is safely, effectively and
ethically providing important genetic information to consumers
concerning their nutritional well-being, contributing to their
health and wellness. Sciona is not involved in diagnostic or
disease-related services or information. Sciona believes that
the nutritional genetic information provided can best assist
consumers if it is available to the consumer through direct
access to the service, and we look forward to the development
of a regulatory environment and we intend to fully comply and
cooperate with the regulatory authorities.
Thank you.
[The prepared statement of Ms. Gill-Garrison follows:]
[GRAPHICS NOT AVAILABLE IN TIFF FORMAT]
The Chairman. Thank you, Rosalynn.
Dr. Reed.
STATEMENT OF CAROL R. REED, M.D., SENIOR VICE PRESIDENT AND
CHIEF MEDICAL OFFICER, CLINICAL DATA, INC
Dr. Reed. First of all, thank you very much, Senator Smith,
for the opportunity to appear here today. As you know, my name
is Carol Reed. I am chief medical officer of Clinical Data,
Inc. We are a company that has been in the forefront of the
development of pharmacogenetics research and testing for many
years. We provide pharmacogenomic and molecular services to the
research industry, including clinical trial aspects of drug
development, but key to our business is our ability to
discover, develop and commercialize genetic tests to guide drug
development and utilization.
As the Committee is well aware, drug spend is one of the
largest components driving the total cost of health care,
despite many efforts to contain it. Health care providers and
payers face the difficult task of deciding which drugs to be
prescribed to specific patients and are suitable for
reimbursement. These decisions are based on medical outcome
studies and economic benefit factors, but with little knowledge
of which individual patients are most likely to benefit from a
specific drug.
In fact, managed care plans employed by payers and
prescription benefit managers have a significant impact on
providers' decisions as to which drugs should be prescribed.
All participants in the decision to prescribe would benefit
from the ability to more clearly identify drugs that are most
efficacious and safest for a specific individual or patient
population.
The medical community generally acknowledges that most
drugs work more effectively for some patients than for others.
The genomic blueprint each person inherits from his or her
biological parents is contained within a person's DNA and
determines not only the obvious physical characteristics that
differentiate us, such as height, hair color and eye color, but
also has a large impact on how we respond to medications. By
understanding genetic variation and its relationship to drug
response, it is possible to determine which individuals are
most likely to benefit from a given drug even before the drug
is prescribed.
Clinical Data's main focus is the development and delivery
of genetic tests that may be used to more confidently predict
an individual's response to an intervention. As an example, our
FAMILION test is used to identify mutations in ion channel
genes that are associated with Familial Long QT Syndrome. This
test has had a very direct and positive impact on patients'
lives, helping physicians determine the right intervention for
each patient, as well as assisting the family in ascertaining
the status of their relatives, as these syndromes may be
asymptomatic until presenting suddenly with syncope, seizures
or death.
This test requires a provider's order, is performed in our
CLIA-certified and compliant laboratory in New Haven, and test
results are reported directly to the provider for use in
decisionmaking as clinically indicated. Despite the absence of
an approved proficiency testing program for this high-
complexity test, we conduct proficiency testing with the
assistance of academic experts. This is the model that Clinical
Data intends to follow as we develop and deliver
pharmacogenetic tests to payers and providers.
Regarding nutrigenomic testing, in 2002 Genaissance
Pharmaceuticals entered into an agreement with Sciona, a
nutrigenomics testing company. In the good-faith opinion of the
company at that time, this testing did not fall under CLIA
oversight. The Genaissance laboratory accepts de-identified
samples from Sciona customers, extracts DNA and performs
genotyping. We have a quality control process in place that
meets CLIA standards for proficiency testing and our accuracy
in genotypes calls is over 99 percent. The genotying results
are sent to Sciona, who provides interpretation and a report to
their customers.
Genaissance Pharmaceuticals was acquired by Clinical Data
in October 2005. Clinical Data is supportive of the interest on
the part of CMS and CLIA and the Federal Government to consider
increasing regulatory oversight of this testing, and the
Committee may well be aware that we have now undergone CLIA
auditing of our nutrigenomics testing and we are now awaiting
the results of that audit.
The Chairman. But did you actually refuse their
reauthorization?
Dr. Reed. At the time when we were conducting the test
earlier and felt that it was not under CLIA regulation, yes, we
did refuse that inspection, but we have since permitted that
inspection.
The Chairman. You refused it, but you have since allowed
it?
Dr. Reed. Correct.
The Chairman. You are awaiting the results for that?
Dr. Reed. Correct.
The Chairman. I guess my problem was just that that fact,
coupled with GAO's finding of inconsistent test results, have
clearly led to some concern on the part of the Committee.
Dr. Reed. Understandable.
The Chairman. You understand, OK. Thank you very much,
Carol.
Dr. Reed. You are welcome.
[The prepared statement of Dr. Reed follows:]
[GRAPHICS NOT AVAILABLE IN TIFF FORMAT]
The Chairman. Kristopher King.
STATEMENT OF KRISTOPHER KING, CHIEF EXECUTIVE OFFICER,
SURACELL, INC., MONTCLAIR, NJ
Mr. King. Mr. Chairman and members of the Committee, my
name is Kristopher King and I am the chief executive officer of
Suracell, Inc. We are sorry that our chief science officer, Dr.
Vincent Giampapa, was unavailable to testify today.
I would like to begin by stating some key points about
Suracell. Suracell is not a laboratory and does not perform
genetic testing, but recommends it as one component of the
program we offer to our clients. Suracell offers nutritional
advice and supplements to our clients. Suracell does not make
any diagnosis in relation to disease, medical conditions or
prescription drugs. Suracell has a robust privacy policy and
Suracell has a comprehensive informed consent process.
Suracell's program is based on sound and accepted scientific
research, and Suracell is committed to the ongoing education of
an informed client base.
Suracell was incorporated in 2004 with the mission of
providing consumers with state-of-the-art, personalized
nutritional information and products that can help optimize
wellness. Suracell's chief science officer is Vincent Giampapa,
and based on his 10 years of practicing age management
medicine, Dr. Giampapa observed that within specific types of
DNA and biomarker testing and focused nutritional advice, his
patients' overall health status in several areas greatly
improved in a relatively short period of time. This research
was published. Suracell is guided by an advisory board
comprised of specialists in genetics, microbiology, gerontology
and several M.D.s.
One of the three components of Suracell's personalized
nutritional program is an analysis based on information
obtained from the results of a buccal cell-based gene variant
test that identifies 26 gene variants that are associated with
the efficiency of five metabolic processes--glycation,
inflammation, methylation, oxidative stress and DNA repair. One
example would be for a consumer whose profile reveals a
deficient value for the SNP MTHFR which relates to homocysteine
levels. This consumer would benefit from increasing their
intake of folic acid.
The correlation between particular genetic variations and
optimal nutritional support are based on peer-reviewed
scientific literature. Suracell offers a DNA test and the
laboratory that processes this test is SeraCare BioServices,
based in Maryland. SeraCare uses a home brew method for
processing DNA samples submitted as part of Suracell's
nutritional program. Suracell understands from SeraCare that
its lab has CLIA certification. SeraCare destroys specimens
upon completion, so those samples cannot be used for any other
purpose.
Suracell provides clients and their health care
professionals with the results of the analysis provided by our
program and recommends nutritional supplements based on those
results. The Suracell program is designed for informed clients
between the ages of 40 to 60 because the processes affecting
glycation, inflammation, methylation, oxidative stress and DNA
repair are typically less efficient at this age due to genetic
inheritance, environmental exposures and lifestyle. But
research indicates that improvements can still be made within
this age range to enhance overall wellness.
The vast majority, approximately 85 percent, of Suracell's
customers are in the 40 to 55 age range. Suracell does not sell
to anyone under the age of 18 and requires each customer to
provide informed consent. Suracell's consent process requires
that customers actively consent to the testing of the samples
they provide in advance of any testing procedures and,
separately, that they consent to have their physician or health
care practitioner receive the results of the analysis of such
tests.
Suracell has a detailed published privacy policy available
on our website. Suracell adheres to FTC standards for privacy
and protection of consumer information. In addition, Suracell
maintains compliance with the privacy and information
provisions of HIPAA.
You asked us to address direct-to-consumer genetic testing.
The most important aspect of this is the accuracy of the
testing and the results provided. In some cases, consumers may
be making life-altering decisions based on the results of these
tests, particularly in the area of paternity, disease screening
and prenatal screening. An expansion of the CLIA standard to
include the sub-specialty of genetic testing would be a useful
step in this process.
You asked us for our views on the article ``Federal
Neglect: Regulation of Genetic Testing,'' in ``Issues in
Science and Technology,'' Spring 2006. Suracell agrees with the
following points raised by the article. There should be a
specific CLIA standard for the sub-specialty of genetic
testing. There needs to be government oversight of the accuracy
of tests. Suracell agrees with FTC oversight of advertising
claims made by companies offering direct-to-consumer DNA
testing.
Suracell strongly believes that consumers who choose to do
so can benefit from knowing their genetic variance as it
relates to the aforementioned metabolic processes because such
knowledge enables them to make dietary and behavioral changes
to improve their overall wellness. In addition, Suracell
believes that in order for the benefits of new genetic
knowledge and technology to be realized, the public must be
assured that genetic testing is accurate.
Suracell again recommends that establishing genetic testing
specialty certification within CLIA may be an effective
strategy to achieving oversight of genetic testing and is
supportive of this action.
Thank you.
The Chairman. Mr. King, you are testifying on behalf of Dr.
Giampapa?
Mr. King. I am testifying on behalf of Suracell.
The Chairman. Suracell.
Mr. King. Dr. Giampapa, our chief science officer, would be
better at explaining the science behind the program.
The Chairman. Well, he is your chief science officer?
Mr. King. Yes, sir.
The Chairman. It is my understanding he is a plastic
surgeon.
Mr. King. Yes, sir.
The Chairman. How does that qualify him to do genetic
testing?
Mr. King. Well, over a 10-year period, Dr. Giampapa has
believed that plastic surgery focusing on the outside of the
body is really deficient and doesn't focus on the total body.
For over 10 years, he has worked on looking at inside-out
approaches to improve wellness.
The Chairman. But my point is just simply that if he is
your chief science officer and he is a plastic surgeon working
in the very technical field of genetics, I guess it raises a
question.
Mr. King. Well, we do have an advisory board. We have
several geneticists, molecular biologists that work on a full-
time or a part-time basis advising the company.
The Chairman. You would admit, though, genetics is a much
more complicated field than plastic surgery?
Mr. King. Yes.
The Chairman. You have indicated that SeraCare is CLIA-
certified, but you also use Genox as a laboratory and have
represented to the Committee staff that you verified Genox'
CLIA certification. We know that Genox is not CLIA-certified.
Can you address the misrepresentation?
Mr. King. Well, there are three components to our program.
We have the genetic test which is done by SeraCare. We have the
assessment which is done by Genox, and we have the lifestyle
questionnaire. I was unaware of the lack of CLIA certification
in the Genox laboratory.
The Chairman. So it was ignorance on your part?
Mr. King. Yes, sir.
The Chairman. You didn't know they weren't certified?
Mr. King. Yes, sir.
The Chairman. But it was represented to us by you that they
were.
Mr. King. I honestly don't recall when I spoke with the GAO
if I had made that claim. If you say I have, then I, you know--
--
The Chairman. Well, it simply goes to this whole
credibility issue which leads to this hearing today. I am not
trying to cast aspersions on you personally, or any of you.
Mr. King. I understand.
The Chairman. But we have a responsibility to consumers and
this is just so loosy-goosy here that I am really concerned
about what you are selling, what it means, the doom and gloom,
the validity, the premium price that is being charged, the
peddling of health advice, frankly, when there isn't the basis
for it.
I am worried that we are exploiting and misleading people--
this industry. I am very alarmed that consumers are being
preyed upon, that this great promise of the Genome Project is
being exploited in a way that is victimizing people who have no
assurance of the accuracy, validity or utility of these tests.
I want to emphasize, too--and we are going to get to this--
privacy and confidentiality. Who do you share it with? Why does
a nutritionist follow up with the GAO investigating, wanting to
sell them something based on something from a genetic home brew
kit?
[The prepared statement of Mr. King follows:]
[GRAPHICS NOT AVAILABLE IN TIFF FORMAT]
Mr. Ramarathnam.
STATEMENT OF NARASIMHAN RAMARATHNAM, PRESIDENT, GENOX
CORPORATION, BALTIMORE, MD
Mr. Ramarathnam. Thank you, Mr. Chairman. My name is
Narasimhan Ramarathnam. I know it is pretty complicated and for
the sake of convenience, people know me as Rama.
The Chairman. Dr. Rama?
Mr. Ramarathnam. Dr. Rama. That is right.
The Chairman. OK.
Mr. Ramarathnam. I am the president of Genox Corporation, a
position that I have held since November 1998. I understand
that you have been provided with a copy of my written testimony
and attachments that are to be made part of the record.
I would like to take this opportunity to describe briefly
the history and mission of Genox. Genox is a small
biotechnology company located in Baltimore, MD. The company was
organized in October 1991 by a small group of U.S. investors,
along with Dr. Richard Cutler and his son, Roy Cutler. Dr.
Cutler is a well-known scientist in the field of aging. Prior
to founding Genox, Dr. Cutler spent 18 years as a research
chemist at the National Institute on Aging, which is a division
of NIH.
The late Dr. Hirotomo Ochi, the founder of Nikken Foods and
Nikken groups of companies in Japan, was asked to invest in
Genox shortly after the laboratory was established. Prior to
investing in Genox, Dr. Ochi had already established the Japan
Institute for the Control of Aging. We call it JaICA. Dr.
Cutler served as the president of Genox from January 1995 until
he resigned in November 1998.
During the past decade, Genox has served the scientific
community by providing to researchers products and services for
the measurement of biomarkers that would indicate oxidative
stress levels. In layman's terms, oxidative stress is like a
see-saw. We have damage on one side and the anti-oxidative
defense forces on the other side. The moment a tilt takes place
toward the damaged side, the aging process sets in, leading to
the gradual loss of physiological functions normally later in
life.
Genox sells this patented kit which is made by JaICA. This
kit is normally sold to scientists and researchers for them to
use in their laboratories. Using this kit, the researchers can
measure the DNA damage biomarker 8-OHdG, 8-hydroxy
deoxyguanosine. Please note that this test kit is not the so-
called home test DNA kit. It should not be used by anyone at
their homes. It does not measure DNA directly. One has to have
special skills, and also will need special equipment to use
this kit. Once again, this is not a home test kit.
Among the many institutions using this kit are OXIS Health
Products, located until last year in Portland, OR; the Medical
College of Wisconsin; NYU; the University of North Carolina;
University of Pennsylvania; Yale; Harvard; Johns Hopkins
University; VA Hospital; and U.S. EPA. We have submitted to
this Special Committee a list of 28 publications by scientists
who have used this product that will demonstrate the importance
and utility of this kit.
Genox also offers analytic services to scientists who are
involved in basic and applied research. These research
scientists lack either the necessary equipment or expertise
needed to measure 8-OHdG in their research samples. Through the
provision of its analytic service, Genox enables more extensive
research on aging than would otherwise be possible.
The major institutions whose researchers use Genox analytic
services are the University of Pittsburgh, Johns Hopkins
University, Colorado State University, Harvard School of Public
Health, VA Hospital, and the National Institute on Aging. I
have attached to my testimony copies of seven publications by
scientists who have used Genox services.
Take, for example, the interesting studies of oxidative
stress in individuals trained at moderate and high altitudes.
The work was done by Professor Eldon Askew, of the University
of Utah. This research is of great significance for our armed
forces. Every time scientists like Dr. Askew call us and
request our service, it makes Genox and me personally grow
younger and not older.
In closing, again I want to thank the Committee for
inviting me to testify and commend you, Mr. Chairman, for
holding this hearing. I will be happy to answer any questions
you may have for me.
Thank you.
[The prepared statement of Mr. Ramarathnam follows:]
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The Chairman. Mr. Rama, your kit may be entirely valid when
used by medical institutions and physicians, but what I am
concerned about is your lab. It is not CLIA-certified. Is that
correct?
Mr. Ramarathnam. That is correct, sir. Our mission is to be
of service to the scientific community who are involved in
basic and applied research related to oxidative stress and
aging.
The Chairman. Why would your lab not be able to pick up
synthetic urine?
Mr. Ramarathnam. We treat all samples as samples. We do not
classify whether it is natural urine, whether it is synthetic
urine. When we are able to report or detect the levels of 8-
OHdG, we will give the value. If it is not detectable--we will
report it as not detectable. We cannot identify that it is
artificial or natural urine.
The Chairman. Are you aware your customers, some of whom
are selling their kits and using your lab, are making
representations that you have these abilities?
Mr. Ramarathnam. Our research report clearly says it should
be used as a research tool in the study of oxidative stress
related to aging and disease--oxidative stress related disease
and aging. Genox Corporation assumes no responsibility for the
use of this report for diagnosis, treatment, cure, or
prevention of any health-related condition.
The Chairman. Well, you disclaim using genetic tests, but
your company's website clearly markets in-house tests for
assessing DNA damage.
Mr. Ramarathnam. That is correct, sir. We measure the end
product of oxidative DNA damage. We do not measure DNA by
itself.
The Chairman. So you are saying that assessing DNA damage
is something different than performing--is no part of a genetic
test?
Mr. Ramarathnam. It is not related to genetic testing.
The Chairman. Now, I understand your lab is not just
dealing with research because it is running tests on samples
received straight from consumers from Suracell. Is that
correct?
Mr. Ramarathnam. Our understanding was we were--I mean,
Suracell would use this report only for their product
development. It should not be used for treatment of any disease
or curing any illness. So all these subjects or volunteers who
would send their samples to us--we will test them and report
back to Suracell as a research tool to help them in their
product development.
The Chairman. You are receiving their samples directly from
Suracell's customers? They come right to you?
Mr. Ramarathnam. Yes, sir.
The Chairman. Are you aware how they are representing your
results from those tests?
Mr. Ramarathnam. No, we are not aware of that.
The Chairman. Do you have any concern with that?
Mr. Ramarathnam. Yes, we do.
The Chairman. I think you should. That is why you are here
today.
Mr. Ramarathnam. Thank you, sir.
The Chairman. We thank you for being here today.
Howard Coleman.
STATEMENT OF HOWARD COLEMAN, FOUNDER AND CHIEF EXECUTIVE
OFFICER, GENELEX CORPORATION, SEATTLE, WA
Mr. Coleman. Thank you, Senator. Thank you very much for
inviting me here today. I share your concerns about the quality
of the results that are produced by this industry as it very
rapidly grows. I very much support the regulatory process.
Genelex is a DNA testing company that I founded with our
laboratory director in 1987. We have been providing direct-to-
consumer DNA testing for more than a decade, beginning with
paternity testing in the mid-1990's. In 2000, we began to do
pharmacogenetic DNA drug reaction testing, and then in 2002 the
nutritional genetic testing.
We are a CLIA lab, and we are also accredited by the
American Association of Blood Banks Parentage Testing
Committee. For 5 years, we were accredited by the American
Society of Crime Laboratory Directors' Laboratory Accreditation
Board. I bring those accreditations up because they represent
the best in quality assurance programs in the DNA field at this
time.
One of the reasons that those programs were so successful
and continue to be successful is because they were peer-
initiated and done in a cooperative fashion. Federal, State and
local government worked together with industry. The College of
American Pathologists was involved, the National Institute of
Standards and Technology was involved, and as a result we came
out with excellent programs that are ongoing today.
I am disappointed in the GAO report based on what I heard
today. I regret that we did not have the opportunity to see
this report beforehand. There are a lot of points in this that
could be clarified had the GAO come to us and said, ``here is
what we found out and here are the conclusions that we are
making'' and given us the opportunity to comment.
One of the things that I am familiar with is the dietitian
they are speaking of, I am guessing, is a dietitian that we
work with. She is adamantly opposed to selling supplements, and
we don't sell supplements either because it is an intrinsic
conflict of interest for us as the DNA tester. She certainly
would not contact someone if they weren't seeking, or based on
telephone calls to us and questions to us, had not expressed a
need for further information. This perhaps addresses the
statement that the reporting is ambiguous. We provide this
extra level of support in order to help people interpret the
test results and put them into action.
In general, these tests--and I want to include the
pharmacogenetic testing we do are the wave of the future in
terms of gaining benefit from the Human Genome Project. These
tests are in various ways on the cutting edge of science, and
while some of them may not be proved to the standards required
to prescribe a dangerous drug to someone, for altering your
lifestyle in terms of your diet and other factors, they can be
very useful.
I make that statement based on the fact that we have done
this testing for hundreds of people and the feedback we get
from people is that these tests help them make the behavioral
and lifestyle changes they need to do to control risk factors
that over a period of decades lead to major diseases.
The Chairman. Do those people take those tests from your
lab at the direction of a physician?
Mr. Coleman. The nutritional genetic testing, generally
not.
The Chairman. Do you think they should?
Mr. Coleman. Yes, very much so, if----
The Chairman. But they don't necessarily?
Mr. Coleman. No, sir, they do not.
The Chairman. They are being, frankly, sold these tests
without the context of how to really take advantage of what you
call the fruits of genetics?
Mr. Coleman. I don't think that is true, sir. That is why
we work with a certified nutritional specialist. That is why
the reports provide a level of detail around these individual
factors.
The Chairman. So you just simply have a difference of
opinion with the earlier witnesses from Johns Hopkins that, to
be meaningful, genetic testing needs to be done in a more
comprehensive fashion?
Mr. Coleman. I wouldn't describe that as the nature of the
disagreement I have. The disagreement I have is with the
conclusions that the GAO reached, and from listening to that
testimony I regret that we did not have an opportunity to see
this report so that we could address the specific items in this
report.
The Chairman. Well, that is fair enough. I mean, you can
have a difference of opinion. That is allowed in America.
Mr. Coleman. Sure.
The Chairman. As a CLIA-certified lab, do you have concern
with what you have heard this morning about how loosely this
enterprise is being engaged with?
Mr. Coleman. Yes, sir, I do. I support your efforts here
and I think we need to have more regulation. I think that, in
general, now most of the testing is done in CLIA labs and in a
quality fashion. The people that I know in the industry are
very conscious and aware of this, but I think that we are going
to see an explosion of people coming into this field in the
fairly near future and I think it is very important that there
are some regulations in place to see that that is done in an
orderly fashion so that people can gain the benefits of this
testing, as they do now, in the most efficient and beneficial
fashion.
The Chairman. Howard, you have one position and you are
entitled to a difference of opinion. My struggle here is just
simply that your genetic tests--if they are accurate, how do
you explain the results from 14 profiles based on only two DNA
samples?
Mr. Coleman. Senator Smith, I would like to see those
reports and be able to go over that and understand it.
The Chairman. Well, I hope you will. I mean, this Committee
is following congressional protocol. GAO is following their
protocol. You ought to get into this because, frankly, if you
are coming up with results from 14 profiles based on two DNA
samples that are all varied, I think you ought to have some
very real concern about that.
Mr. Coleman. I want to know why, exactly. I want to know
why that is.
The Chairman. So you can understand why the GAO would come
to their conclusion?
Mr. Coleman. Yes, I can, and I think that they should have
come to us to say, here are our conclusions, what is going on
here, because there may be explanations for this.
The Chairman. Well, I encourage you to stay in contact with
this Committee. We would like an answer, too. I mean, to me, it
is per se a problem if you have got only two DNA samples and 14
profiles that are different.
Mr. Coleman. It could be based on differences in the
lifestyle questionnaire. Until I would have an opportunity to
review those reports--and I would like to involve Dr. Gill-
Garrison in that process--it is impossible to say.
The Chairman. Well, I think we have demonstrated why we
need to get into this as a Government to provide some standards
so that the public is protected and you can pursue a credible
enterprise, but we don't have that right now.
Mr. Coleman. I very much welcome those efforts. If I could
continue?
The Chairman. Please.
Mr. Coleman. In the more medicalized arena of the drug
reaction testing, the pharmacogenetic testing that we have been
doing direct to the public since 2000, this is the single
greatest opportunity to improve the health care of the aging
because of the huge, as the FDA describes it, adverse drug
reaction problem. They describe it as a major solvable public
health problem, and that is because half of the people that we
test have a variation in their genetics that alter how they are
able to process about half of the most commonly prescribed
meds.
We are talking about several classes of heart medicines,
anti-depressants, anti-psychotics, pain meds, anti-diabetics,
and the list goes on. Those DNA test, particularly when
combined with drug interaction software that can help interpret
those results, is a very powerful solution to the adverse drug
reaction problem. There is an embarrassing gap between our
knowledge in that area and its application in medicine, and
that is one of the reasons that we sell those tests direct to
the public.
We warn people, we tell people on everything, don't change
your meds without going to your doctor. But many of our people
come to us who have had a history, a very long history of
problems with meds, and these problems have not been addressed
by their physicians or their other health care providers. We do
the genetic test and this shows why they have had these
problems all these years and leads them to work out a solution
with their physician.
The Chairman. Should I be worried, Howard, about the
privacy of your customers?
Mr. Coleman. Well, I would say that coming to a company
like ours is a way for you to protect your privacy. If you go
to your doctor and order one of these tests, then you don't
have control of that information. That has gone into the health
care records system, and HIPAA notwithstanding, I think people
have concerns about the security of that information. If you
come to a company such as ours, then that information will
remain secure. It is your property and short of a court order,
we under no circumstances would release that information to
anyone.
The Chairman. But I understand in reviewing your company
that your questionnaire doesn't even ask if they have
medications or existing diseases to warn consumers about risk.
Am I wrong on that?
Mr. Coleman. The questionnaire for the nutritional genetic
test you are asking about?
The Chairman. Yes. You don't even ask if they are on
medications for existing diseases.
Mr. Coleman. I look forward to the day when we have a more
comprehensive program and we combine the medical aspects with
the more nutritional aspects. But I think that in designing
this test, Sciona has wanted to draw a very sharp line between
what is medical and what is not, and I think they have been
very careful not to stray into the medical arena with their
test.
The Chairman. Well, I think you have just made the point
that Dr. Hudson was making from Johns Hopkins. You have got to
have actual and you have got to have legitimate clinical
studies.
Mr. Coleman. Well, you have to have clinical studies. You
can prove this stuff to death, though, and it will never get
out to the public. The use of it will never be made. The fact
is people find this information useful now and it does help
people.
The Chairman. But it can't be very useful if you don't even
ask them if they are on medication, if you don't know anything
about their environment, their medical history.
Mr. Coleman. When we do the pharmacogenetic testing, we
have a questionnaire that we send to people asking all the meds
that they are on. We have a software that they can access in a
password-protected fashion. They can put all their meds in that
program and get a report that they can take to their doctor.
The Chairman. But you are going to beef up your
questionnaire, though.
Mr. Coleman. Pardon?
The Chairman. You are going to beef up that questionnaire
to get a more comprehensive background on somebody?
Mr. Coleman. The nutritional genetic----
The Chairman. Yes.
Mr. Coleman. I don't have control over that questionnaire,
sir.
The Chairman. Who has control of that?
Mr. Coleman. Sciona does.
[The prepared statement of Mr. Coleman follows:]
[GRAPHICS NOT AVAILABLE IN TIFF FORMAT]
The Chairman. OK, back to Sciona. Ms. Gill-Garrison, your
company was shut down in the United Kingdom.
Ms. Gill-Garrison. It was not shut down. We made a
commercial decision to move the company to the United States in
response to consumer demand. We found that people in the United
States, in North America in general, were much more interested
in taking a proactive role in their own health and well-being.
The Chairman. So you are still doing business with the
British?
Ms. Gill-Garrison. It is still possible to obtain our test
in the UK, that is correct.
The Chairman. Have your sales declined with them?
Ms. Gill-Garrison. Excuse me?
The Chairman. Have your sales in Britain declined as a
result of your moving?
Ms. Gill-Garrison. Have they declined----
The Chairman. I mean, the consumer complaints and the
investigation of the British government.
Ms. Gill-Garrison. We did not have consumer complaints. We
were part of a campaign by an anti-genetic campaign
organization, but we did not actually have consumer complaints.
We have a data base of all of the actual inquiries, comments
that we did obtain from consumers at that time. We are not
actively marketing in the UK, so the most accurate answer to
your question is, yes, sales have declined. We do not have an
active marketing presence in the United Kingdom.
The Chairman. You disclaim testing for predisposition for
disease, is that correct?
Ms. Gill-Garrison. That is correct.
The Chairman. But the test results tell consumers that they
have an increased risk of developing type 2 diabetes, high
blood pressure and heart disease.
Ms. Gill-Garrison. We actually have supplied a copy of the
test to the group assembled here so that you can see the
language that we do produce. We stop where the science stops.
So there are very clear gene-diet interactions that focus on
particular variations that are related to elevated homocysteine
levels, for instance, elevated cholesterol levels. That is
where our information particularly related to the genetic
variations and the dietary interventions that we recommend is
focused.
The Chairman. I hope you can understand why I am having a
problem because I understand you disclaim testing for
predisposition for disease. I have got somebody's report right
here from your company and you are saying right here, ``You may
be at an increased risk of developing type 2 diabetes, high
blood pressure and heart disease.'' That tells me that it is a
pretty scary diagnosis.
Ms. Gill-Garrison. Indeed. I would like to see the actual
part of the report that that came from and I would also like to
have an opportunity to address the finding of the GAO so that
we can clarify that. The 14 different results that were found
are not surprising to me because there were 14 different
lifestyle questionnaires.
If you look through the report example that you have there,
you will see that we provide personalized information to the
individual based on their questionnaire results, and this is a
way of telling people how they are doing in particular
nutrition areas. There is quite a lot of research that has been
done that demonstrates that consumers really don't have a good
feeling for their actual nutrient intake, and so our lifestyle
questionnaire is designed to give them feedback on what their
vitamin B intake is, for instance, and then we set goals which
are based on the genetics. Also, as you go through the report,
you will find sections that describe the activity of the
different genes, the biomarkers such as cholesterol levels,
homocysteine levels that can be affected by these variations.
The Chairman. Well, now Mr. Coleman is saying that your
questionnaire doesn't even ask if your people are on
medication.
Ms. Gill-Garrison. We do on the report recommend that
anyone that is on the medication or under the care of a
physician seek out the advice of that physician before taking
on any of the information that we provide in these reports.
The Chairman. But you don't ask them what their medications
are?
Ms. Gill-Garrison. Not at this time.
The Chairman. Would it be a good idea?
Ms. Gill-Garrison. That is an interesting question. It is
something that we are exploring with our ethics advisers at
this point.
The Chairman. Just last week, the NIH issued a statement
about genetic testing for type 2 diabetes and they say, ``While
the genetic variant does predict a greater risk of developing
type 2 diabetes, the researchers are not recommending routine
genetic testing for it. We don't currently have evidence that
such a test would mean better outcomes for patients or that it
would be cost-effective.''
I guess in light of that, I wonder, is your company going
to discontinue offering type 2 diabetes testing.
Ms. Gill-Garrison. We don't offer type 2 diabetes testing.
We look at particular genetic variants that are related to
insulin sensitivity, and I think that what you can find in the
scientific literature is some discordance in what is an
agreeable end point for a person's health care. Do we think
that monitoring cholesterol levels, keeping cholesterol levels
low, is an adequate end point, or do we have to wait to see
whether or not they go on to develop full-blown heart disease,
full-blown cancer, before we can intervene with nutritional
advice and information?
The Chairman. Thank you all for coming. This may not have
been pleasant, but I think it is very, very important that we
not exploit and mislead people. There is a lot of doom and
gloom that comes with the findings that come out of your
companies and your labs. I don't want consumers preyed upon in
such a manner. I don't want costly, potentially harmful
supplements to be sold to people without a full medical
involvement as it relates to genetic testing and I think we
have to do a better job of protecting privacy. So we are going
to lean on the Government with the next panel.
We cast no personal aspersions on you. We have great
concern about this industry. We want to see the promise of the
Genome Project fully realized, but this industry, I fear, is
getting ahead of that and may be doing damage to customers in a
way that will set us back. I don't think you want that, I don't
want that, and the American people deserve better than that. So
with that, we will thank you and dismiss this panel and call up
our third.
On our final panel, we will hear from Thomas Hamilton, who
is the director of the Survey and Certification Group at the
Centers for Medicare and Medicaid Services, and Dr. Steve
Gutman, director of the Office of In Vitro Diagnostic Devices
at the Food and Drug Administration.
Gentlemen, to be consistent with the other panels, would
you stand and be sworn?
Do you promise that the testimony you are about to give
will be the truth, the whole truth and nothing but the truth,
so help you God?
Dr. Gutman. I do.
Mr. Hamilton. I do.
The Chairman. Thank you.
Steve, why don't we start with you?
STATEMENT OF STEVEN R. GUTMAN, M.D., DIRECTOR, OFFICE OF IN
VITRO DIAGNOSTIC DEVICE EVALUATION AND SAFETY, CENTER FOR
DEVICES AND RADIOLOGICAL HEALTH, FOOD AND DRUG ADMINISTRATION,
U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES, ROCKVILLE, MD
Dr. Gutman. Good morning, Mr. Chairman and members of the
Committee. I am Steve Gutman, director of the Office of In
Vitro Diagnostic Device Evaluation and Safety within the Center
for Devices and Radiological Health at the FDA.
The safety and quality of in vitro diagnostics, or IVDs, is
of utmost importance to the agency and I appreciate the
opportunity to discuss these devices and the findings of the
GAO investigation. I have submitted testimony for the record.
For my opening statement, I will provide a brief overview of
our regulatory authority regarding IVDs.
The regulation of IVDs by FDA, like the regulation of all
medical devices, is risk-based, with devices classified into
different categories--class I, II or III. The FDA regulatory
program is comprehensive and includes requirements for
registration and listing of products for high-quality
production using good manufacturing practices and for post-
market reporting of adverse events. For some class I, most
class II and all class III devices, FDA review is required
before a new medical device can enter the marketplace.
FDA applauds the GAO for its work in investigating the
important issue of genetic tests sold directly to the consumer.
In the early stages of GAO's investigation, we briefed staff on
the existing regulatory framework for devices generally and IVD
products, in particular. As defined by law, a product is a
medical device if it is intended for diagnosis of disease or
other conditions, or for use in the cure, mitigation, treatment
or prevention of disease. To the extent the tests GAO
investigated make such claims, they are devices subject to FDA
jurisdiction.
The next question we ask is what type of devices these are.
If they are test kits or systems that are intended to be used
at multiple laboratories, they are subject to FDA pre-market
review. If the laboratories develop the tests themselves using
commercially available active ingredients, then FDA regulations
require that the tests be ordered by a physician or other
person authorized under State law to order such tests.
The Chairman. Dr. Gutman, after having heard today what you
did, shouldn't they all be under that basis?
Dr. Gutman. Well, it would depend on the State law,
actually, so I can't actually----
The Chairman. But you don't have the jurisdiction to do
that?
Dr. Gutman. Not to trump State law.
The Chairman. OK.
Dr. Gutman. These tests must be performed in laboratories
that are certified by CMS as high-complexity under CLIA 1988.
At this point, Mr. Chairman, we are working to determine if
some tests investigated were subject or are subject to pre-
market review or other regulatory requirements. We have
contacted the companies involved to gather information about
the tests and will consider appropriate enforcement actions.
Having reviewed the information gathered by GAO, FDA
experts have a number of scientific concerns, concerns you have
clearly put on the table this morning, with these testing
services and the diagnostic claims that they make. FDA believes
that the tests being offered are not grounded in valid
scientific evidence, and we agree with GAO that they largely
appear both medically unproven and meaningless.
The agency looks forward to working with Federal partners
to address concerns about Internet sale of genetic tests direct
to consumers. We are active participants in the evaluation of
genomic applications and practice and prevention program, which
is spearheaded by CDC to perform technology assessment on
specific tests, including direct-to-consumer testing. We have
participated broadly in outreach programs with work groups at
the NIH, and most recently we have participated in two working
groups recommended by the Secretary's Advisory Committee on
Genetics, Health and Society to address the specific issues on
the table today of direct-to-consumer sale of genetic tests.
An important work item, as you have already noticed from
one of these, is a collaborative development with FTC and CDC
of an advisory alerting consumers to the hazard of direct-to-
consumer genetic tests. This advisory cautions consumers on the
importance of using trained health care professionals or
genetic counselors before obtaining or acting on these tests.
We appreciate the efforts by the Committee and the GAO to
examine the tests under discussion. We are committed to working
with other Federal regulatory and non-regulatory partners to
address the problems identified. Thank you for this time and I
am happy to answer any questions you may have.
The Chairman. Doctor, do you think that the FDA should have
jurisdiction to regulate home-brew tests? I just heard you, I
think, agree with the GAO that these tests are not
scientifically sound. Do you think you ought to have the
congressional authority, the statutory authority?
Dr. Gutman. Yes, sir, I do believe we should. I actually
believe we do.
[The prepared statement of Dr. Gutman follows:]
[GRAPHICS NOT AVAILABLE IN TIFF FORMAT]
The Chairman. Mr. Hamilton.
STATEMENT OF THOMAS HAMILTON, DIRECTOR, SURVEY AND
CERTIFICATION GROUP, CENTER FOR MEDICAID AND STATE OPERATIONS,
CENTERS FOR MEDICARE AND MEDICAID SERVICES, U.S. DEPARTMENT OF
HEALTH AND HUMAN SERVICES, WASHINGTON, DC
Mr. Hamilton. Good morning, Chairman Smith. Thank you for
the opportunity to come here today and discuss the manner in
which CMS implements the Clinical Laboratory Improvement
Amendments of 1988, otherwise known as CLIA.
CLIA established nationally uniform quality standards for
all clinical laboratories and all their testing to ensure the
accuracy, reliability and timeliness of patient test results,
regardless of the setting in which the test was performed.
Those requirements apply across the full spectrum of lab tests,
including genetic tests.
Under CLIA, as Dr. Gutman explained, three categories of
laboratory tests have been established--waived tests; tests of
moderate complexity, including the sub-category of provider-
performed microscopy; and tests of high complexity. CLIA
specifies detailed quality standards for the latter two
categories and most genetic tests fall into the high-complexity
category.
To enroll in the CLIA program, laboratories must register
by completing an application, pay fees, be surveyed if they
perform tests of moderate or high complexity, and receive a
CLIA certificate. Laboratories that perform moderate and/or
high-complexity tests must be surveyed onsite biennially in
order to maintain certification, and may choose whether they
wish to be surveyed by CMS or CMS's agent or by a private CMS-
approved accrediting organization. Laboratories that conduct
only waived or provider-performed microscopy tests are subject
to surveys only if a complaint is alleged.
The CMS survey process focuses on outcomes; that is, we
focus on the test results and the actual or potential harm that
may be caused to patients due to inaccurate testing. Education
and enforcement are both used. An educational approach permits
a surveyor to provide resources and an explanation of the
applicable requirements to the laboratory. This facilitates the
laboratory's ability to correct deficiencies prior to
imposition of enforcement actions.
However, if the laboratory cannot or will not correct the
problems within a reasonable and specified amount of time,
sanctions are imposed that are commensurate with the history,
seriousness and pervasiveness of the deficiencies. Fulfillment
and enforcement of CLIA standards is CMS' primary focus.
When CMS finds problems during a survey, the laboratory is
generally provided an opportunity to correct those problems
prior to enforcement actions, unless there is actual or
potential harm to patient safety or there are recurring
deficiencies. Over the past 5 years, CMS has initiated
enforcement action in more than 5,000 cases. These proposed
sanctions carry a clear communication: problems must be fixed
promptly and effectively. I am pleased to say that in less than
8 percent of the time that we proposed such sanctions have we
actually needed to implement the sanctions because of
laboratory failure to take effective and timely remedial
action.
I wish to emphasize that the Clinical Laboratory
Improvement Amendments enacted by Congress and faithfully
implemented by CMS have substantially improved the reliability
and accuracy of laboratory testing in this country. The first
onsite surveys of laboratories conducted right after CLIA
implementation in 1992, for example, revealed that up to 35
percent of laboratories had significant quality control and
quality assurance problems. Currently, less than 7 percent of
the labs surveyed by CMS each year have such quality control or
quality assurance problems.
More recently, the percentage of laboratories that meet our
proficiency testing standards has increased from about 88
percent in 1988 to about 93 percent in 2003. We place high
importance on strengthening the application of CLIA
requirements for genetics testing and for all laboratory
testing. To such an end, for example, in 2003 we strengthened
quality control standards. In 2004, we established performance
standards for State agencies. Also, in 2004 we initiated
national meetings with all accrediting organizations to
strengthen the national system and enter into better
information-sharing agreements.
In 2005, we implemented national cytology proficiency
testing for all people who examine pap smears. For the first
time, more than 12,000 people took individual exams to test
their individual ability to make accurate readings of pap
smears. In 2006, we implemented a national electronic tracking
system for all complaints and all complaint investigations
received by CMS and State survey agencies.
It is important to note that the laboratories conducting
genetic tests are already subject to existing CLIA regulations.
Tests for genetic markers are dispersed throughout the various
specialties identified in the regulations, and requirements for
those tests are encompassed by the current quality standards.
In addition, we strengthened the CLIA regulations in 2003
and incorporated certain recommendations related to genetic
testing that came from the Secretary's Clinical Laboratory
Improvement Advisory Committee, otherwise known as CLIAC.
Examples include additional confidentiality requirements,
facility work flow requirements to minimize contamination, and
quality control requirements for the genetic test method of
polymerase chain reaction.
When problems are identified with any laboratory, including
laboratories that conduct genetic tests, we take action. For
example, earlier this month we issued a notice of potential
revocation of the CLIA certificate for one laboratory
conducting genetic tests and we are currently in the process of
conducting a complaint investigation for a number of other
laboratories that reportedly conduct genetic testing.
Our reconnaissance periodically identifies a few
laboratories that we believe should have registered under CLIA,
but which have not done so, or laboratories that have a CLIA
certificate, but have expanded their testing beyond the areas
for which they are certified. In such cases, we communicate
with the laboratory and subsequently take enforcement action if
we do not receive a favorable and timely reply. Such
enforcement action may include revocation of the laboratory's
CLIA certificate, if it already has a certificate, or an
injunction to cease testing if the laboratory does not have a
CLIA certificate.
In conclusion, we in CMS are dedicated to ensuring the
accuracy of test results from our Nation's laboratories,
including those conducting genetic tests. There is no
substitute for objective, trained personnel examining the
quality of health care onsite. That is the purpose of the
survey and certification system.
I thank the Committee and you personally, Chairman Smith,
for your interest in improving clinical laboratory testing in
the United States and I look forward to answering any questions
you may have about our efforts.
[The prepared statement of Mr. Hamilton follows:]
[GRAPHICS NOT AVAILABLE IN TIFF FORMAT]
The Chairman. Thank you, gentlemen. No doubt, you
individually and your agencies are doing much good work, but we
have got a problem. I think this hearing has made that
abundantly clear to me; I hope it has to you. Here we sit, 6
years after discussions about genetic testing under CLIA, but
we don't have a rule in place. So I am wondering why, over the
last 6 years, we don't have a stronger regulatory process for
them.
Mr. Hamilton. We did promulgate additional rules in 2003
that strengthened the quality control processes and we drew
upon the CLIAC committee recommendations quite heavily in doing
so. We continue to evaluate the need for additional rules, but
we do believe at this point that the greatest gain can be made
in strengthening our application of existing rules and adopting
as comprehensive an approach as possible.
Let me try to put the situation into context. It may be
useful to think about this entire situation in terms of five
different activities: the advertising of genetic tests, the
sale of genetic tests, the testing itself, the interpretation
of results, and the communication of those results to
consumers. Of those five, CLIA focuses on the testing itself,
and within testing, CLIA focuses not on clinical validity, not
on the question of whether the test is of value to the consumer
and measures the right things, but rather the analytical
validity. Does the measurement process measure what it is
supposed to be measuring.
The Chairman. So you don't speak at all as CMS, anyway, to
ensure the accuracy, utility and safety and validity of the
home genetic tests themselves?
Mr. Hamilton. CLIA speaks to the analytical validity. Are
the tests done accurately and reliably? But that additional
regulation for CLIA itself----
The Chairman. You evaluate the process, but their
conclusions, you don't evaluate their legitimacy?
Mr. Hamilton. There would be nothing to prevent a company
from taking these and over-claiming through hyperbolic claims
about effectiveness or extending the results in a consumer
sales process. I think it was Dr. Hudson who emphasized the
need for a fairly comprehensive approach, and that is why we
are engaged with CDC and the FTC in looking at all of this
because it all has to work together. Our particular job in CLIA
is really to make sure that the testing itself is accurate and
reliable.
The Chairman. Have you looked at any of their websites and
found hyperbolic claims?
Mr. Hamilton. Indeed, and we are very concerned about that.
I found hyperbolic claims. I found the kinds of statements that
are so vague and apply to so many people that it might amount
to no more than a genetic horoscope.
The Chairman. Do you think they have any liability for such
a thing?
Mr. Hamilton. I think that is a consumer sales and
protection realm of activity and I can speak only to the
question of CLIA itself.
The Chairman. If they do have erroneous results, if you
were in their place, you would be concerned about liability.
Mr. Hamilton. To the extent that a laboratory is performing
genetic tests that are subject to CLIA and does note have a
CLIA certificate, they have a liability. To the extent that
they are performing tests inaccurately, then we not only have a
concern, but the laboratory ought to have a real concern about
those results.
The Chairman. Do you have any concerns about privacy of the
people, of their customers?
Mr. Hamilton. Protecting privacy is an important part of
the CLIA regulations, as well as the Privacy Act on Health
Insurance Portability and Accountability Act (HIPAA). Both of
those are invoked under the CLIA regulation. We have heard a
number of instances in which laboratories seem to be doing
testing, but do not have a CLIA certificate and have not
registered for one. In our reconnaissance of those, we are
following up with such laboratories and informing them of the
need to make such application, and to the extent that they
refuse to do so, then we follow up either by removal of any
existing CLIA certificate or by an injunction to cease testing.
The Chairman. Dr. Gutman, am I accurate that the evaluation
of the clinical validity of the tests is the responsibility of
your agency, of the FDA?
Dr. Gutman. Well, that certainly is one of the charges in
the products that we review, yes.
The Chairman. What are you doing to protect consumers from
fraudulent tests?
Dr. Gutman. Well, in general, for tests that we are
reviewing, we, in fact, on a test-by-test basis look at the
claim and do establish both analytical and clinical validity.
As you probably know, sir, for many of these tests we have
currently been applying enforcement discretion and approaching
these on a risk-based basis. So we have taken some action.
We are assessing what our role might be. As Dr. Hudson
suggested, this is a very complex and nuanced area and as we
assess this, we would like to see regulatory controls put into
place. We are very concerned that we not chill this technology,
so we actively are addressing how to approach this.
The Chairman. Well, I just want to encourage stepping on
the accelerator.
Dr. Gutman. OK. I appreciate that comment.
The Chairman. I think you see the promise in genetic
testing. I hope you come away from this hearing with a
suspicion that some damage is being done to that promise, and
there may be marketing going on right now that is simply
today's snake oil and we owe the American people better than
that.
Thomas, specifically, are nutrigenomic tests subject to
CLIA regulation?
Mr. Hamilton. It depends on exactly what they are testing
and the purpose of those. I think the kinds of examples that
you have brought out in today's hearing--we would say they are
subject to CLIA. We look first to ask whether or not they are
using specimens from the human body. Yes. Are they providing
information? Yes. Are they providing information for the
purpose of diagnosing or treating or preventing disease or
impairment, or for the assessment of a person's health? If yes,
if all those things pertain, they are subject to CLIA.
The Chairman. My understanding is all those are answered
yes in the cases we have looked at.
Mr. Hamilton. That is my interpretation, yes.
The Chairman. So I would certainly encourage a biomarker
assessment or a regulation such as performed by Genox be
subject to CLIA regulation. If it isn't now, I really do
encourage that it be included.
How can a doctor or a patient find out whether a lab or
CLIA-certified?
Mr. Hamilton. They can go to our website and get
information about the laboratories. I appreciate that sometimes
navigating through our website is a difficult process,
particularly since we just reorganized it. So that is an area
that we are looking at in terms of how we can make information
about laboratory status more effective.
The Chairman. Is it a concern to CMS if a lab represented
itself as CLIA-certified but is not?
Mr. Hamilton. It is of great concern to us if a lab
represents itself as certified.
The Chairman. Well, I would strongly encourage that the
website be made easier, user-friendly, and that these kinds of
representations be pursued by CMS.
Mr. Hamilton. I think one of the things that is coming out
from the GAO report that we have a deeper appreciation for is
some of the claims made by companies and some of the confusion
that may be out there as to whether or not some of these
laboratories do fall under CLIA. That is something that we can
remedy, and we will be issuing additional communications to the
field making it very clear that these laboratories are subject
to CLIA.
The Chairman. Gentlemen, thank you for being here. Again,
we appreciate your work. I did not know where this hearing was
going to go when a year ago--or if we would even have a
hearing--when I asked for this review. But looking at the
review, I am alarmed, and the stewardship falls to your
agencies to provide a framework that keeps the Genome Project
promise, protects consumers and, frankly, stops perhaps
industry practices which amount to fraud.
I am not concluding that, but I am suspicious of it, and
this Committee is going to continue to encourage you. After 6
years, let's get the regulatory structures in place so that the
American people are protected and the promise of genetic
testing is not damaged by some who may take advantage of
unsuspecting American consumers.
So thank you all, and we are adjourned.
[Whereupon, at 11:54 a.m., the Committee was adjourned.]
A P P E N D I X
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Prepared Statement of Senator Ken Salazar
Thank you Chairman Smith and Ranking Member Kohl for
holding today's hearing.
Throughout its history, the Aging Committee has led the way
in calling attention to important public policy issues
impacting older Americans and has not been afraid to take on
industries that prey on vulnerable seniors.
As Colorado's Attorney General, I spent considerable amount
of time and energy protecting the elderly in my state from
fraud and abuse. I consider the creation of the Medicaid Fraud
Unit one of my proudest accomplishments.
I welcome the witnesses testifying here today. It is my
hope that they can shed light on an industry that I have only
recently learned existed: the Direct-to-Consumer Genetic
Testing Industry. In particular, I thank Ms. Rosalynn Gill-
Garrison, who is here representing Sciona Inc., headquartered
in Boulder, Colorado.
Sciona has been bery cooperative throughout Aging
Committee's investigation on the practices of companies
currently engaged in Direct-to-Consumer Genetic Testing. I
appreciate their cooperation.
While advances in the field of genetic science continue to
open doors in the field of healthcare and improving the quality
of life for many people, many questions about on this emerging
science remain open for discussion and debate.
I know I have many questions.
For example, how are these companies marketing their
products and services? What are the effects of their products
on Americans who receive their ``genetic health forecasts''?
And finally, how reliable is the science these companies
employ?
There are certainly ground-breaking possibilities that
genetic testing and diagnosis could bring to the field of
healthcare, but I believe the impact on those using these
products must always be of paramount concern.
Today, someone sitting at home on their couch can go to the
drug store or log onto the internet and purchase a mail-in
genetic test that purports to tell them whether they are
genetically prone to any number of medical conditions,
including heart disease, breast cancer, and Alzheimer's.
When that person receives the results from these tests in
the mail, without the counseling and interpretation of a
specialized medical professional, the results of these genetic
tests can be confusing, alarming, and easily misinterpreted.
I am very interested in learning more about the GAO's
recent investigation on these genetic and am pleased to see
that GAO representatives are on hand to answer questions about
their study.
At first glance, I find GAO's conclusions very troubling.
GAO claims that tests sold by the companies here today
frequently mislead individuals by making claims that they are
unable to substantiate.
By submitting volunteer samples to genetic testing
companies, they established a disturbing scheme. After being
informed that they are susceptible to a number of serious and
possibly chronic diseases, companies market and sell costly
supplements, medical supplies, and further tests, which are
either unnecessary or based on questionable science, to
vulnerable Americans.
We have provided the companies named in this study an
opportunity to defend their company practices. I fully
anticipate they will detail the practices they are taking to
ensure that their services and the representations they make to
their customers are honest and accurate.
If America's seniors are indeed being sold a bag of goods,
I believe it is the responsibility of our government to
regulate this industry and to protect consumers.
I look forward to hearing the testimony of today's experts
from CMS and the FDA to explain what regulations and oversight
are these Direct-to-Consumer genetic testing firms currently
fall under. In particular, I am interested learning whether CMS
and FDA believe they have the authority to regulate these firms
under current law. If the answer is no, it may be the case that
the members of this Committee need to work together to rectify
this.
Again, I thank the Committee for holding today's hearing.
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