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
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Amanda Xi, ACP Medical Student Member, is a first-year medical student at the OUWB School of Medicine, charter class of 2015, in Rochester, Mich., from which she which chronicles her journey through medical training from day 1 of medical school.
Ira S. Nash, MD, FACP, is the senior vice president and executive director of the North Shore-LIJ Medical Group, and a professor of Cardiology and Population Health at Hofstra North Shore-LIJ School of Medicine. He is Board Certified in Internal Medicine and Cardiovascular Diseases and was in the private practice of cardiology before joining the full-time faculty of Massachusetts General Hospital.
Zackary Berger, MD, ACP Member, is a primary care doctor and general internist in the Division of General Internal Medicine at Johns Hopkins. His research interests include doctor-patient communication, bioethics, and systematic reviews.
Controversies in Hospital
Run by three ACP Fellows, this blog ponders vexing issues in infection prevention and control, inside and outside the hospital. Daniel J Diekema, MD, FACP, practices infectious diseases, clinical microbiology, and hospital epidemiology in Iowa City, Iowa, splitting time between seeing patients with infectious diseases, diagnosing infections in the microbiology laboratory, and trying to prevent infections in the hospital. Michael B. Edmond, MD, FACP, is a hospital epidemiologist in Richmond, Va., with a focus on understanding why infections occur in the hospital and ways to prevent these infections, and sees patients in the inpatient and outpatient settings. Eli N. Perencevich, MD, ACP Member, is an infectious disease physician and epidemiologist in Iowa City, Iowa, who studies methods to halt the spread of resistant bacteria in our hospitals (including novel ways to get everyone to wash their hands).
db's Medical Rants
Robert M. Centor, MD, FACP, contributes short essays contemplating medicine and the health care system.
Suneel Dhand, MD, ACP Member
Suneel Dhand, MD, ACP Member, is a practicing physician in Massachusetts. He has published numerous articles in clinical medicine, covering a wide range of specialty areas including; pulmonology, cardiology, endocrinology, hematology, and infectious disease. He has also authored chapters in the prestigious "5-Minute Clinical Consult" medical textbook. His other clinical interests include quality improvement, hospital safety, hospital utilization, and the use of technology in health care.
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.
Toni Brayer, MD, FACP, blogs about the rapid changes in science, medicine, health and healing in the 21st century.
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.
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.
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.
Mike Aref, MD, PhD, FACP, 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.
William Hersh, MD, FACP, Professor and Chair, Department of Medical Informatics & Clinical Epidemiology, Oregon Health & Science University, posts his thoughts on various topics related to biomedical and health informatics.
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.
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.
Kevin Pho, MD, ACP Member, offers one of the Web's definitive sites for influential health commentary.
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.
Elaine Schattner, MD, FACP, 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.
Mired in MedEd
Alexander M. Djuricich, MD, FACP, is the Associate Dean for Continuing Medical Education (CME), and a Program Director in Medicine-Pediatrics at the Indiana University School of Medicine in Indianapolis, where he blogs about medical education.
Rob Lamberts, MD, ACP Member, a med-peds and general practice internist, returns with "volume 2" of his personal musings about medicine, life, armadillos and Sasquatch at More Musings (of a Distractible Kind).
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.
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Technology in (Medical)
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.
Peter A. Lipson,
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 intersection of science, medicine, and culture.
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World's Best Site
Daniel Ginsberg, MD, FACP, is an internal medicine physician who has avidly applied computers to medicine since 1986, when he first wrote medically oriented computer programs. He is in practice in Tacoma, Washington.
Other blogs of note:
American Journal of
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.
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, commentary and more.
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.
The Public Library of Science's open access materials include a blog.
One of the most popular anonymous blogs written by an emergency room physician.