Thursday, July 10, 2008
The long arm of your chromosomes and the law
A great debate is raging in the wider genetics community that is directly relevant to day-to-day internal medicine. In the last three years, the advent of genome-wide association studies has facilitated the discovery of more than 180 markers for risk of a growing list of common chronic diseases, including cancers, diabetes, coronary heart disease and Alzheimer's. In the last six to nine months, a number of companies have moved to make these markers directly available to consumers in the form of genome-wide scans that can be obtained over the Internet for between $1,000 and $2,500, and several are seeking to lower that price point drastically.
The companies qualify that all test results provided to the consumer are preliminary in nature and that their products represent information, rather than medical advice. However, after looking at these companies' Web sites, one could conclude that the companies--implicitly or explicitly--suggest to consumers that they might use the results to improve their health. There is no direct evidence that providing patients with genetic risk information from genome-wide association studies improves health outcomes, though, importantly, this is very likely to change in the next few years.
Yet, there are reports--many provided by the testing companies themselves--that patients are bringing their results to health care providers with the expectation that some form of action be taken to mitigate their newly discovered disease risk. However, beyond selected anecdotes, we know little about what providers are doing with the information patients bringing them.
Though direct to consumer (DTC) testing for traditional genetic conditions (think hereditary breast cancer and ovarian cancer syndrome) has been around for a number of years, the sophistication, scale and potential reach of this new crop of offerings has raised the interest of both state and federal regulatory bodies. Not unexpectedly, these companies have also been subject to intense criticism from the scientific and medical communities. The central theme of those voicing concerns is that the health care implications of this embryonic realm of genetic testing is unknown at this time and that potential harms could result from either over-, under- or misinterpretation of test results.
In the last few months, the intensity of the debate has ratcheted up. The state of California sent cease-and-desist letters to 13 concerns offering DTC genetic services to California residents. The letter stipulated, among other things, that the companies need to offer their tests through Medicare approved, CLIA certified labs and that a licensed physician needs to be involved in ordering the test. At the federal level, there is ongoing Congressional scrutiny of the topic, evidenced by a June 12, 2008 roundtable held by Senator Gordon Smith of the U.S. Senate Special Committee on Aging. On July 7 and 8 a committee that advises the U.S. Secretary of the Department of Health and Human Services on issues surrounding genetics/genomics examined this issue in some depth. From these proceedings it is clear that there are widely divergent opinions on the topic of DTC availability of genome-wide scans.
Interestingly, this scrutiny has brought an unexpected windfall to those of us in primary care. Individuals from the most technology-driven reaches of medicine are discussing the need for increased research on determinants of health behaviors and a re-evaluation of how our current system values preventive interventions.
The core questions confronting DTC genetic testing are not new to medicine, nor even genetics/genomics: first, when is a new technology ready for clinical use; and second, how much regulation is appropriate to ensure its safe and effective application while fostering innovation and minimizing risk of disparities?
One side of this debate argues strongly that consumers should be empowered with every bit of information about their health possible, and that to deny them direct access to their genetic makeup through overly strict regulation is old-fashioned and paternalistic. The other side argues that this type of genome-wide scanning is still a research tool. Consequently, offering it DTC at this point in time in a loosely regulated manner may substantially mislead the public and health care providers, incurring costs both in terms of morbidity and scarce health care resources.
Both sides have valid points. The American Medical Association and the American College of Medical Genetics have taken note of the new DTC movement and have developed official positions critical of DTC genetic testing. It is unclear what effect these statements will have on the entities offering this type of testing. What is clear is that much hinges on consumer demand and opinion--and to some extent the ability to shape that demand rests in the hands of health care providers like you. The best two pieces of wisdom at this juncture? First, patients should consider involving their health care provider prior to undergoing any DTC genetic test. Second, patients should hold off for now on getting a genome-wide scan for health care purposes. At present we know far too little about how to use this information to promise or imply benefit.
W. Gregory Feero, MD, PhD, a family physician with a doctorate in human genetics, is senior adviser for genomic medicine in the Office of the Director at the NIH's National Human Genome Research Institute. His column runs every issue in ACP Internist
Labels: genetics, genomics, Practical Genomics
posted by W. Gregory Feero, MD, PhD at
11:02 AM
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Members of the American College of Physicians contribute posts from their own sites to ACP Internist and ACP Hospitalist. Contributors include:
Albert Fuchs, MD
Albert Fuchs, MD, FACP,
graduated from the University of California, Los Angeles School of
Medicine, where he also did his internal medicine training.
Certified by the American Board of Internal Medicine, Dr. Fuchs
spent three years as a full-time faculty member at UCLA School of
Medicine before opening his private practice in Beverly Hills in
2000.
David Katz, MD
David L. Katz, MD, MPH, FACP, is an internationally renowned
authority on nutrition, weight management, and the prevention of
chronic disease, and an internationally recognized leader in
integrative medicine and patient-centered care.
DrDialogue
Juliet K. Mavromatis, MD, FACP, provides a conversation about
health topics for patients and health professionals.
Dr. Mintz' Blog
Matthew Mintz, MD, FACP, has practiced internal medicine for more
than a decade and is an Associate Professor of Medicine at an
academic medical center on the East Coast. His time is split
between teaching medical students and residents, and caring for
patients.
Everything Health
Toni Brayer, MD, FACP, blogs about the rapid changes in science,
medicine, health and healing in the 21st century.
FutureDocs
Vineet Arora, MD, FACP, is Associate Program Director for the
Internal Medicine Residency and Assistant Dean of Scholarship &
Discovery at the Pritzker School of Medicine for the University of
Chicago. Her education and research focus is on resident duty
hours, patient handoffs, medical professionalism, and quality of
hospital care. She is also an academic hospitalist.
Glass
Hospital
John H. Schumann, MD, FACP, provides transparency on the workings
of medical practice and the complexities of hospital care,
illuminates the emotional and cognitive aspects of caregiving and
decision-making from the perspective of an active primary care
physician, and offers behind-the-scenes portraits of hospital
sanctums and the people who inhabit them.
Gut Check
Ryan Madanick, MD, ACP Member, is a gastroenterologist at the
University of North Carolina School of Medicine, and the Program
Director for the GI & Hepatology Fellowship Program. He
specializes in diseases of the esophagus, with a strong interest in
the diagnosis and treatment of patients who have
difficult-to-manage esophageal problems such as refractory GERD,
heartburn, and chest pain.
I'm dok
ACP Member Mike Aref, MD, PhD, ACP Member, is an academic
hospitalist with an interest in basic and clinical science and
education, with interests in noninvasive monitoring and diagnostic
testing using novel bedside imaging modalities, diagnostic
reasoning, medical informatics, new medical education modalities,
pre-code/code management, palliative care, patient-physician
communication, quality improvement, and quantitative biomedical
imaging.
Just Oncology
Richard Just, MD, ACP Member, has 36 years in clinical practice of hematology and medical oncology. His blog is a joint publication with Gregg Masters, MPH.
KevinMD
Kevin Pho, MD, ACP Member, offers one of the Web's definitive sites
for influential health commentary.
MD
Whistleblower
Michael Kirsch, MD, FACP, addresses the joys and challenges of
medical practice, including controversies in the doctor-patient
relationship, medical ethics and measuring medical quality. When
he's not writing, he's performing colonoscopies.
Medical
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Elaine Schattner, MD, ACP Member, shares her ideas on education,
ethics in medicine, health care news and culture. Her views on
medicine are informed by her past experiences in caring for
patients, as a researcher in cancer immunology, and as a patient
who's had breast cancer.
Prescriptions
David M. Sack, MD, FACP, practices general gastroenterology at a
small community hospital in Connecticut. His blog is a series of
musings on medicine, medical care, the health care system and
medical ethics, in no particular order.
Reflections
of a Grady Doctor
Kimberly Manning, MD, FACP, reflects on the personal side of being
a doctor in a community hospital in Atlanta.
Technology in (Medical) Education
Neil Mehta, MBBS, MS, FACP, is interested in use of technology in
education, social media and networking, practice management and
evidence-based medicine tools, personal information and knowledge
management.
White Coat Underground
Peter A. Lipson, MD, ACP Member, is a practicing internist and
teaching physician in Southeast Michigan. The blog, which has been
around in various forms since 2007, offers musings on the
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ACP Internist and ACP Hospitalist also contribute to and draw upon content from Get Better Health, a network created by Val Jones, MD, to support and promote health care professional bloggers, provide insightful and trustworthy health commentary, and help to inform health policy makers about the clinician's point of view on health care reform, science, research and patient care.
Other blogs of note:
American
Journal of Medicine
Also known as the Green Journal, the American Journal of Medicine
publishes original clinical articles of interest to physicians in
internal medicine and its subspecialities, both in academia and
community-based practice.
Clinical Correlations
A collaborative medical blog started by Neil Shapiro, MD, ACP
Member, associate program director at New York University Medical
Center's internal medicine residency program. Faculty, residents
and students contribute case studies, mystery quizzes, news,
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db's Medical
Rants
Robert M. Centor, MD, FACP, contributes short essays contemplating
medicine and the health care system.
Interact
MD
Michael Benjamin, MD, ACP member, doesn't accept industry money so
he can create an independent, clinician-reviewed space on the
Internet for physicians to report and comment on the medical news
of the day.
PLoS
Blog
The Public Library of Science's open access materials include a
blog.
White Coat Rants
One of the most popular anonymous blogs written by an emergency
room physician.
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