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2008
Awards Committee
David Valle, MD,
Chair
Anne M. Bowcock,
PhD
J. M. Friedman,
MD, PhD
Rick A. Kittles,
PhD
John V. Moran,
PhD
Susan A.
Slaugenhaupt, PhD
ex officio
Aravinda
Chakravarti, PhD
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2008 Social Issues Committee
Sharon Terry, MA, Chair
Timothy A. Caulfield, LLM
Mildred K. Cho, PhD
S. Malia Fullerton, DPhil
Kathy Hudson, PhD,
Miriam Kuppermann, PhD, MPH
Mark E. Nunes, MD
Bradley Popovich, PhD, MSc
Charmaine D. Royal, PhD
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2008
Program Committee
Michael Lovett,
PhD Chair
Hans C. Andersson, MD
Allison Ashley-Koch, PhD
Leslie G. Biesecker, MD
Vivian Cheung, MD
Katrina M. Dipple, MD, PhD
David B. Goldstein, PhD
Susanne M. Gollin, PhD,
Karen W. Gripp, MD
Joel N. Hirschhorn, MD PhD
Deborah Krakow, MD
Albert R. La Spada, MD PhD
Charles Lee, PhD
Miriam Meisler, PhD
Joan A. Scott, MS, CGC
Mark D. Shriver, PhD
Hongyu Zhao, PhD
Ex officio:
Aravinda Chakravarti, PhD
Edward R. B. McCabe, MD, PhD
David L. Nelson, PhD
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Stem Cells and Genetic Testing: The Gap Widens Between Science and Society - Ricki Lewis, PhD
The disconnect between what biomedical scientists know and what health care consumers expect is growing, catalyzed by the media and the Internet. The rush to personalize medicine has led to some questionable Web offerings of treatments and tests that have
apparently avoided the traditional clinical trial developmental pathway.
In recent months, news coverage of induced pluripotent stem cells (iPS) have catapulted the topic of stem cells back into the headlines, free of the perceived taint that is commonly associated with human embryonic stem cells (hES). While successes in using
iPS cells to recapitulate development in various diseases accumulate, questions loom about how many choreographies of reprogramming genes can reset the developmental clock, and precisely how they do so. Still, the potential of iPS cells is staggering, even
if clinical applications are not here yet. But you’d never know it from the Web.
I recently lost a dear friend to Amyotrophic Lateral Sclerosis (ALS), which more commonly known as Lou Gehrig's disease. Just after his funeral, I googled “ALS and stem cells,” knowing all too well the limited treatment options. I soon learned that
patients given one company’s proprietary stem cells “are expected to enjoy a rapid recovery and much enhanced quality of life.” In actuality, the company is planning to put human bone marrow stem cells into ALS mice. A second company claims to have been
doing “embryonic stem cell transplants for various diseases” for the past 16 years, which is interesting since hES cells have only been around for 10. Further reading revealed that their hES cells to treat ALS hail from 4-8 week-old embryos—they mistook
“embryonic” to mean anything from an embryo. Cost to a desperate patient: $15,000.
Direct-to-consumer tests based on whole genome association (WGA) studies are also not ready for the clinic. Consumers submit DNA-bearing saliva, and then algorithms based on published WGA studies spit back risk stats, with an on-call genetic counselor
possibly available. The tests are exempt from FDA scrutiny because the language is carefully non-medical in nature. Cram the Web site with an intro genetics course, assemble an impressive advisory board, and the FTC is satisfied, too.
The truth is, and the DTC company Web sites actually say so in the fine print, that we just don’t know yet whether a population-based association study can provide meaningful information for an individual. The Today Show sent a reporter to use one
company’s tests to discover his eye color, bitter taste sensation and earwax consistency. But what happens when a person receives notice of hiked risk for MS? Or colorectal cancer? Or the dreaded restless legs syndrome? Are these proclamations worth $1000
to $2500 plus a yearly fee, especially when the advice is little more tailored than to get check-ups, stop smoking, start exercising and eat veggies?
Companies that promote genetic tests and treatments too soon can lure consumers into making life-altering decisions. Personally, I—along with many other experts in the field—do not think it is ethical to market stem cell treatments or genetic tests
directly to consumers without adequate evidence to support company claims. Furthermore, I believe that the only ethical way for DTC companies to back-up marketing claims about their products is through supportive evidence that is generated from unbiased,
randomized, controlled clinical trials, along with replication and validation through long-term, large-sample studies.
Ricki Lewis (ralewis@nycap.rr.com) is the author of Human Genetics: Concepts and Applications and the novel Stem Cell Symphony. A version of this essay was first published at
http://blog.bioethics.net.
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ACMG Releases New Policy Statement on Direct-to-Consumer Genetic Testing
- Kathy Beal, ACMG Media Relations Officer
With ongoing genetic discoveries and improvements in technology, more genetic tests are available than ever before. Along with greater availability has come increased demand for genetic tests and the expansion of direct-to-consumer testing and marketing.
Last year, ASHG adopted a policy on direct-to-consumer (DTC) genetic testing that called for improvements in industry quality control standards and transparency. The Society’s policy statement also emphasized the importance of increased education of health care providers
about DTC genetic testing and quality of patient care.
The American College of Medical Genetics (ACMG) has recently developed its own policy statement that builds on the guidelines proposed by the ASHG in 2007. The College drafted the
ACMG 2008 Policy Statement on Direct-to-Consumer Genetic Testing to support genetics specialists and health professionals in addressing
their questions related to DTC genetic testing and patient care.
The guidelines are designed primarily as an educational resource for clinicians and genetic counselors to help them provide quality medical services and advise patients. Adherence to the guidelines suggested by the ACMG is completely voluntary and, of course, all health
care providers should continue to apply their professional judgment according to the specific clinical circumstances presented by each individual patient.
According to Michael S. Watson, PhD, FACMG, executive director of ACMG, “Geneticists and genetic counselors are the ‘professional guides to the human genome’ and can help patients make informed decisions about choices related to genetic testing and provide invaluable
support and guidance in interpreting test results in light of personal and family history.” Dr. Watson also urged health care providers to remember that, “This is not an area where people should really ‘go it alone.’”
The ACMG 2008 Policy Statement on Direct-to-Consumer Genetic Testing includes 5 minimum requirements for any genetic testing
protocol, including:
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A knowledgeable health professional should be involved in the process of ordering and interpreting a genetic test.
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The consumer should be fully informed regarding what the test can and cannot say about his or her health.
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The scientific evidence on which a test is based should be clearly stated.
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The clinical testing laboratory must be accredited by CLIA, the State and/or other applicable accrediting agencies.
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Privacy concerns must be addressed.
To view the complete ACMG DTC Genetic Testing Policy Statement, please click here.
Kathy Beal is the ACMG’s Media Relations Officer. Please direct all questions and other inquiries related to the ACMG and the organization’s Policy Statement on DTC Genetic Testing to her attention; Ms. Beal can be reached via e-mail at
kbeal@acmg.net, or by phone at 301-238-4582.
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NIH Budget Update: FASEB and ASHG React to FY2009 Proposals for NIH Funding and for the Federal Budget
- Joann Boughman, PhD, ASHG Executive Vice President
In the middle of March 2008, the House and Senate passed their respective $3 trillion FY2009 budget resolutions. These are budget resolutions, and do not indicate that actual level of spending that will be attained. The actual appropriations process
happens later in the year. Both the House and Senate NIH portions of the budget resolutions came in above the President’s 2009 budget recommendations by at least $2 billion dollars.
ASHG along with our partner societies at The Federation of American Societies for Experimental Biology (FASEB) will continue to track the budget process, and will continue to advocate for the increases in the federal research budgets across agencies. FASEB
has supported a 6.5% increase for NIH in FY 2009. It is not clear exactly what the timing will be for the consideration of the appropriations bills, given the election cycle. We will notify ASHG members by e-mail if there is an opportune time to contact
their elected officials to weigh in on a specific action or vote. |
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 UCLA Geneticists Publish New Book:
DNA: Promise & Peril By Ed McCabe, MD, PhD,
ASHG President-Elect (2009); Professor, Depts. of Human Genetics & Pediatrics, David Geffen School of Medicine, UCLA; Co-Director, UCLA Center for Society and Genetics
& Linda McCabe, PhD, Adjunct Associate Professor, Depts. of Human Genetics & Pediatrics, David Geffen School of Medicine, UCLA
It all began five years ago. We had launched an interdisciplinary Honors Seminar for UCLA undergrads titled, “Genomics and Boundaries of Self.” Our goal was to attract students from any major to discuss issues around the interaction of
genetics with their daily lives. We also wanted to establish a foundation for a new undergraduate minor as part of the UCLA Center for Society and Genetics. The students brought diverse perspectives from their
cultural and educational backgrounds. We all learned a great deal.
Four years ago, we started writing a textbook for the course that could also be a trade book. For the past two years, our students have critiqued and edited earlier versions of the textbook. They loved turning the tables on us.
Among the topics addressed in the book:
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Are we all members of a single human race?
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Do mitochondrial DNA and Y chromosome markers provide adequate insight into a person’s genetic heritage?
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Is gender a spectrum or a dichotomy?
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Can an individual be one gender by one criteria and the other gender by a different definition?
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Can DNA from your dental floss in your curbside trashcan be used to test for paternity?
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Can your relative’s DNA in a forensic database be used to place you at the scene of a crime?
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When the $1000 genome sequence is a reality, will licensing fees for patented genes significantly inflate the cost?
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Is protection from genetic discrimination the new civil right?
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Can preimplantation genetic diagnosis be used to create designer babies?
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Should human reproductive cloning be banned because of the danger to both the mother and the clone?
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Do stem cells and regenerative medicine have unknown and unanticipated threats to health?
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What will it take to achieve effective human gene therapy?
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How can we achieve the promise of predictive, personalized and preventive genomic medicine?
We felt very honored when Victor McKusick agreed to write the foreword for the book. We appreciated his suggestions and those of others who read earlier versions of the book, as well as our students and colleagues for
their thoughtful discussions on the topics covered in this text.
This quarter, we are teaching a lecture course with 150 UCLA undergraduates titled, DNA: Promise and Peril, with our book as the text for the
course. We hope that others will teach similar cross-disciplinary courses at the high school, undergraduate, graduate and professional school levels. We also hope that the general public will find the book to be a useful introduction to how genetics impacts all of
our lives. Drs. Ed and Linda McCabe invite you to send your inquiries, ideas and other feedback on their new book, DNA: Promise and Peril, to the
following e-mail address: LMcCabe@mednet.ucla.edu.
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