The Future of Genomic Medicine: Policy Implications for Research and Medicine

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


NHGRI Policy Roundtable Summary

The Future of Genomic Medicine:
Policy Implications for Research and Medicine

Bethesda, Md.
November 16, 2005

On November 16, 2005, the Policy and Program Analysis Branch (PPAB) of the National Human Genome Research Institute (NHGRI) convened a roundtable to examine what core policy issues the NHGRI should work on to help ensure that our greatly expanding knowledge of human genomics is translated into improved health care. The NHGRI Policy Roundtable brought together 19 representatives from government, research, advocacy, health care, insurance, industry, and academia.

One of the NHGRI's major goals is to enhance health care in the USA through the integration of genomic medicine into mainstream medical practice. Genomic medicine is a powerful way to tailor health care at the individual level by using patients' genomic information. By identifying the genetic factors associated with disease, it is possible to design more effective drugs; to prescribe the best treatment for each patient; to identify and monitor individuals at high risk from disease; and to avoid adverse drug reactions. Various NHGRI research programs are already helping to realize the promise of genomic medicine, but many important advances in genomic medicine will only occur if we effectively address matters of public policy.

In tandem with important scientific advances, the NHGRI is already addressing many policy issues related to genomic medicine. The institute continues to advocate for comprehensive federal protections from genetic discrimination by employers or health insurance providers for all: NHGRI believes that such protections are essential to protect Americans from potential abuse of genomic medical information. The NHGRI is also monitoring intellectual property practices related to genomic medicine. Responding to widespread concerns that a "thicket of patents" may slow the incorporation of genomics into the clinical setting, the NHGRI commissioned the National Academies of Sciences to examine the impact of intellectual property [nationalacademies.org] on advances in genomic medicine and is currently planning how best to respond to the report's recommendations. The NHGRI is also working with other interested parties to draw up guidelines regarding the direct marketing of genetic tests to the public. The Roundtable was convened to discuss what further action PPAB should take on these and other issues.

Morning Session

NHGRI Policy and Program Analysis Chief Tim LeshanThe session began with opening remarks from Francis Collins, NHGRI Director, and Tim Leshan, Chief of PPAB. Participants then role-played a hypothetical scenario in which 'Brad,' a young Biotech executive in the year 2015, visits his doctor and has his genome sequenced to analyze whether he is predisposed to heart disease. Moderator Eric Green, the Director of the NHGRI Division of Intramural Research, revealed the scenario in stages: describing how Brad got his genome sequenced through a referral to a genetic counselor; how he found out that he had three alleles predisposing him to an increased risk of heart disease at a young age; how he was recruited to a drug trial testing the drug "Relaxin," designed to reduce the risk of a heart attack in people with his genetic profile; and how, through taking Relaxin, he lived to old age. At each stage, the moderator challenged participants to offer their perspectives about a wide range of policy issues from the viewpoints of their own professions.

Afternoon Session

NHGRI Director Francis S. CollinsModerator Kathy Hudson, Director of the Genetics and Public Policy Center, invited the roundtable participants and members of the audience to comment on the themes that had emerged during the morning session. The group discussed which policy issues are most crucial for the future of genomic medicine.Participants agreed that the NHGRI, together with other agencies, has an important role to play in shaping policies related to the integration of genomic medicine into clinical practice. They identified several issues that would benefit from NHGRI leadership or participation. The discussions provided substantive analysis to help the NHGRI determine its policy focus priorities and the best means to accomplish its goals.

Discussion Themes from the Morning Session:

Possible NHGRI activities:

  1. Intellectual Property: The ever-increasing number of patents related to mutations associated with disease threatens to prevent routine patient genome sequencing from becoming a reality. An "anti-commons land-grab" approach threatens to limit the advance of personalized medicine. The NHGRI needs to develop recommendations that overcome the issues associated with the "thicket of patents."

  2. Regulation of genetic tests: For companies to develop genetic tests and associated medicines, they need to understand the regulations that will govern FDA approval for their clinical use. The NHGRI should encourage greater dialogue between agencies to clarify the current approval procedure, and to recommend changes appropriate for genomic medicine products.

  3. Privacy and consent: The NHGRI should collaborate with others to draw up guidelines for Institutional Review Boards overseeing large cohort studies and banking of genetic material, and for the informed consent of subjects of such studies. They should also work with other agencies to publish "duty to inform" recommendations to guide researchers on which information to tell research participants, and which to withhold.

  4. Economics of genomic medicine: The NHGRI needs to work with health economists to understand better the economic factors that will determine whether and how genomics is translated into clinical practice. What will be financial costs and societal benefits of integration of genomics into health care? Will society ultimately save money through increased productivity of a healthier population? How can we ensure that all benefit from genomic medicine and that it is not exclusive?

  5. Reevaluating the health care paradigm in genomic medicine: The NHGRI should engage with other agencies to evaluate what changes to the current health care system would optimize the benefits of genomic medicine for the American people, and to define roles for different health care providers. Genomic medicine will demand that patients make informed decisions about whether to have a genetic test, whether to take a genomic based drug, and what lifestyle changes to make to reduce their risks of contracting a disease. Currently, it is not clear whose responsibility it is to help them make those choices. Most health care professionals have insufficient knowledge about genomic medicine and there are too few geneticists and genetic counselors.

  6. Genetic non-discrimination: The NHGRI should continue to advocate for federal legislation that prevents genetic discrimination by employers and health insurance providers. It should also fund ELSI grants to study current state legislation, which currently represents the only protection against genetic discrimination. NHGRI should fund research to study the use of genetic information in life and disability insurance and its impact on coverage for individuals.

  7. Non-medical applications of genomics: Genomics is being used for purposes other than the advance of medicine. The NHGRI should examine the scope and ethics of such uses, and assess the impact on genomic medicine.

  8. Reimbursement by health insurers: The NHGRI should examine the issue of reimbursement by health insurance companies for clinical genomics services including genetic testing. Should clinical utility be the benchmark for whether health insurance should pay? How would clinical utility of whole genome sequencing be defined? Does government have a role in contributing to coverage of sequencing services?

  9. Design of large cohort studies, validation of tests and products: The NHGRI should issue guidelines for the design of disease association studies that identify genetic markers linked to specific diseases. It should also issue guidelines for the validation of a test or product related to genomics.

Participants:

Christopher Austin, M.D., Translational Scientist, NHGRI
Les Biesecker, M.D., Genetic Disease Research Branch, NHGRI
Vence Bonham, J.D., Chief, Education and Community Involvement Branch, NHGRI
Francis Collins, M.D., Ph.D., Director, NHGRI
Craig Czarsty, M.D., Clinical Practitioner
Phyllis Frosst, Ph.D., NHGRI
Felix Frueh, Ph.D., Clinical Pharmacology and Bioinformatics, FDA
Eric Green, M.D., Ph.D., Scientific Director, NHGRI
Steven Gutman, M.D., Director, Division of Clinical Laboratory Services, FDA
Alan Guttmacher, M.D., Deputy Director, NHGRI
M.K. Holohan Quattrocchi, J.D., NHGRI
Kathy Hudson, Ph.D., Director, Genetics & Public Policy Center
Tim Leshan, M.P.A., Chief, Policy and Program Analysis Branch, NHGRI
Tracy Lieu, M.D., M.P.H., Center for Child Care Health Care Studies, Harvard
Brad Margus, CEO, Perlegen Sciences, Inc.
Brian Munroe, Vice President, Millenium Pharmaceuticals, Inc.
P. Pearl O'Rourke, M.D., Director, Human Research Affairs at Partners HealthCare Systems, Inc.
John Porter, Former Congressman, Health law expert
Gurvaneet Randhawa, M.D., Agency for Healthcare Research and Quality
Laura Lyman Rodriguez, Ph.D., NHGRI
Cheryl Scacheri, M.S., C.G.C., Genetic Counselor, GeneDx, Inc.
Jeff Schloss, Ph.D., Program Director, Technology Development, NHGRI
Derek Scholes, Ph.D., NHGRI ASHG Fellow
Frank Swain, J.D., Baker & Daniels
Lawrence Sung, J.D., University of Maryland School of Law
Larry Thompson, Chief, Communications and Public Liaison Branch, NHGRI
David Valle, M.D., The Johns Hopkins University School of Medicine
David Veenstra, Ph.D., Health Economist, University of Washington
Vivian Ota Wang, Ph.D., Program Director, Ethical, Legal and Social Implications, NHGRI
Janet Warrington, Ph.D., Vice President, Affymetrix, Inc.
Robert Wells, Affymetrix, Inc.
Ben Wilfond, M.D., Head, Bioethics and Social Policy Unit, NHGRI

Top of page

Last Reviewed: March 23, 2012