|January 14, 2013|
In her January 7, 2013, post on Slate, Virginia Hughes says “the personal genomics horse has bolted, and yet many paternalistic members of the medical community are still trying to shut the barn door.” She is undoubtedly correct about the horse, and her take-home point—let’s spend more time figuring out how to help people understand their results—is spot on. However, we believe that her characterization of the debate surrounding the “return of results” as a waste of time misses the complexity of the challenges facing the medical and research communities.
The falling cost of genome sequencing is making personal genetic data accessible and increasing its use in medical practice. As people begin to amass their genetic information, the debate over whether to return at least some individual genetic results to research participants may become less important. Nevertheless, because there are currently many legal, practical, and ethical arguments for limiting the return of genetic research findings, the discussion of what to return and how to do it is more nuanced than Hughes allows. For example, under the Clinical Laboratory Improvement Amendments (CLIA), many research laboratories (as opposed to clinical testing labs) are not legally allowed to return individual results to research participants. Obtaining CLIA certification, or collecting additional samples to be sent elsewhere for confirmation, would require additional resources in a climate where research dollars are stretched quite thin. The magnitude and nature of risks involved with returning genetic data to healthy individuals are still largely unknown. They may indeed be quite small. Early studies such as the ones Hughes mentions are under way to find out.
We offer that the notion that the biomedical community is fostering a culture of “DNA fear” is misguided. Many collaborative studies between clinicians, researchers, bioethicists and policy makers are asking whether and how to return results while still meeting the obligation to “do no harm.” We believe that scientists’ reluctance to return research findings has less to do with questioning people’s ability to understand uncertain risk than with the concern that it would be irresponsible to give out information that doctors and researchers don’t fully understand themselves.
Many research-grade genetic findings and direct-to-consumer products include risk information (much of which varies according to whom it was generated by) about complex diseases—illnesses such as cancer, diabetes, and Alzheimer’s, which result from the interactions of genetic, environmental, and lifestyle factors, most of which have not yet been identified. Interpretation of these types of results can change or be refuted over time as new studies are completed. This does not mean we think that people are incapable of dealing with the information, but it should give us pause as we consider whether and how to present the data. DTC companies, as is their right, went forward with little or no empirical knowledge of how best to present genetic data or whether the actions people took in response to their results would make sense from a medical perspective. Most scientists and physicians, however, are more reluctant to leave such things to chance.
Anecdotal reports, such as the author’s experience with her own results from 23andMe, are interesting but not completely illuminating on their own. The evidence we have so far on how people deal with their genetic data is mixed; some studies have shown that many people—including physicians and other highly educated people—struggle to interpret and understand genetic risk estimates. As Hughes mentions, others have found that people do not react adversely to receiving their genetic results. The risks of returning some or all of people’s genetic information may be minimal, but, until we know otherwise, we should not dismiss the legitimate possibility that some harm or poor health decisions could result.
Since the personal genomics horse is indeed out of the barn, the questions we have are: where is that horse taking us; do we care; and how can (or should) we take control of the reins? We agree that one of the best ways forward is through better genetics education—for physicians and the public—which will increase the resources available to help interpret and cope with genetic information, and to translate it into appropriate health care decisions. We wish to emphasize that an important first step is to learn the best way to return results by studying the process in real time. Existing large-scale genetic research projects offer a controlled environment in which to test different methods of giving back selected findings, and to examine the various consequences. It is unclear whether researchers have an obligation at this point to return information of uncertain meaning or value. The question of obligation may be the wrong one to ask, however. As Hughes points out, we have the opportunity to learn how to help people give out and receive this type of information, by trying it and systematically studying it along the way. The work has already begun: this is, in fact, a major goal of the $40 million in “return of results” grants—as mentioned by Hughes—that were awarded by the NHGRI. Once we gain insight into how people are interpreting and processing all these pieces of complex information, we can use this knowledge to improve genetics education and literacy among both the biomedical community and the public.
Rachel Dvoskin, PhD is a Researcher at the Genetics and Public Policy Center of the Johns Hopkins Berman Institute of Bioethics. She works with Center staff to meet the goals of its NHGRI-funded work and helps to develop and draft Center materials including grants and manuscripts. Before joining the Center she was a postdoctoral associate at the University of Florida, where she studied genetic and sociocultural risk factors for hypertension and helped initiate a study on stress and epigenetics in new mothers and infants in the Democratic Republic of Congo. Rachel also worked for two years as the copy editor and a contributing writer for Scientific American Mind. She holds a Ph.D. in biological anthropology from New York University and a B.S. in Psychology from Duke University.
Dave Kaufman, PhD is the Director of Research and Statistics at the Genetics and Public Policy Center of the Johns Hopkins Berman Institute of Bioethics, and is responsible for helping to design and analyze the Center’s public opinion surveys on a range of topics. Previously, he was an epidemiologist at the MedStar Research Institute in Washington, D.C., where he analyzed genetic and environmental susceptibility to cancer and cardiovascular disease in American Indians and Alaskan Eskimos. He has worked in bioinformatics as a postdoctoral fellow at the National Cancer Institute, and in health policy at the U.S. Office of Technology Assessment. Dave holds a Ph.D. in genetic epidemiology from Johns Hopkins University and a B.A. in Biology and Anthropology from Oberlin College.