[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






                                 _____

                 U.S. GOVERNMENT PRINTING OFFICE

30-711 PDF              WASHINGTON : 2006
_________________________________________________________________
For sale by the Superintendent of Documents, U.S. Government 
Printing  Office Internet: bookstore.gpo.gov  Phone: toll free 
(866) 512-1800; DC area (202) 512-1800 Fax: (202) 512-2250 Mail:
Stop SSOP, Washington, DC 20402-0001













                       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

                              ----------                              
                                                                   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?

                              ----------                              --



                        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:]

    [GRAPHICS NOT AVAILABLE IN TIFF FORMAT]
    
    
    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

                              ----------                              


               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.

    [GRAPHICS NOT AVAILABLE IN TIFF FORMAT]
    
    
                                 
