Blog | 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