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Despite what most geneticists and physicians would view as a lack of actionable results from personal whole-genome scans, consumers appear to be embracing this opportunity to uncover the secrets of their genomes. It seems highly likely and logical that patients would turn to their physicians for interpretation of such data, since they will not be able to rely on online commercial testing services for guidance. Rather than dismiss the accuracy and usefulness of these tests for predicting and reducing the risk of disease, physicians should view test results as an opportunity for a "teachable moment," in which they can help patients understand the current limitations of genomic information and explain the preventive steps that can be taken to reduce the risk of disease, regardless of one's genome. Patients should understand that the absence of a genome-based predisposition to a disease does not necessarily alleviate one's overall risk of contracting that disease.
For physicians to help patients make sense of genomic information, the way physicians view the field of genetics must change. Physicians are overwhelmed with information and are rightfully reluctant to expend the time and effort necessary to learn about new applications that are considered unlikely to change their daily practice. Although this might have been a valid argument with regard to medical genetics, which is largely the study of relatively uncommon disorders, it no longer holds true for today's genomic medicine. Everyone has a genome. And increasing numbers of consumers will find it attractive to take control of their own genomes — whether it is advisable to do so or not. Among patients who find the allure of the sirens of the genome too tempting to resist, advice to the contrary and interpretation of results as meaningless will fall on deaf ears.
If physicians are not able to provide information on genomics, patients will simply turn elsewhere. Not only is there an evidence gap regarding the validity and clinical utility of personal genomics, there is also an information gap. Enhancing physicians' knowledge of genomic and personalized medicine, regardless of its incomplete status, will help narrow that gap and provide patients with the navigational information they need in an era of medicine in which they are not passive but active participants.
Susanne B. Haga, Ph.D.
Huntington F. Willard, Ph.D.
Duke Institute for Genome Sciences and Policy
Durham, NC 27708
References
M. William Audeh, M.D.
Cedars–Sinai Medical Center
Los Angeles, CA 90048
william.audeh{at}cshs.org
We agree with Audeh that a greater appreciation of disease prevention in both the medical and lay communities is a key to progress. However, we urge that tools for risk stratification be firmly evidence-based, as they are for cardiovascular disease, and that they use the totality of validated risk-factor information, including family history. Premature adoption of poorly understood genome profiles may harm the public perception of the utility of risk assessment based on common genetic variants and could ultimately lead to reluctance to undertake testing, once we have the requisite information about its clinical validity and utility.
David J. Hunter, M.B., B.S., Sc.D.
Harvard School of Public Health
Boston, MA 02115
Muin J. Khoury, M.D., Ph.D.
Centers for Disease Control and Prevention
Atlanta, GA 30341
Jeffrey M. Drazen, M.D.
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