Interestingly, a few clients who initially felt neutral about their abnormal test result reported anxiety only after learning more about the implications and management options, including mastectomy and oophorectomy.
This difference in emotional response could be related to the method of receiving information: reading it online in a comfortable environment when the client chooses to, vs. receiving it in a medical setting when the clinician is able to. Or it might reflect the physical and temporal separation of receiving an abnormal test result from the counseling and discussion of its management. More research is needed to better understand these possibilities.
Only one of the mutation-positive men sought medical advice, but most reported intent to pursue regular breast and prostate screening. However, it is unclear how they would act on that intent without involving a physician – leaving open the possibility that they may not fully understand the clinical significance of their positive result.
Also of concern, only seven (23%) of the mutation-negative clients discussed their result with a health care provider. Among those seven, most discussed it with their primary care physician, who generally did not know what to do with the information.
This represents another missed opportunity to identify patients with a positive family history who might benefit from additional genetic counseling and/or testing.
There are multiple limitations to this study. It is based on a very small and highly selected sample that is biased toward the desire to participate in research, to pursue genetic testing, to specifically know one’s BRCA mutation status, and to share one’s experience learning that status.
There is also the risk of observer bias (the authors are all employees of the company that performed the testing) and participant bias (the subjects are all clients of the company and knew that they were being interviewed by a representative of the company).
Autonomy vs. beneficence
Overall, the results suggest that, at least for a segment of the population, direct access to genetic data of potentially great medical significance may not be associated with as high a risk of emotional distress and inappropriate action as previously thought. But some individuals likely are at risk for unnecessary anxiety and/or misinterpretation of the results.
Central to the discussion is tension over how best to balance autonomy, in the form of a patient’s right to access personal medical information however she or he desires, against beneficence, in the form of minimizing harm.
There is some basic information that, ideally, should be available to all consumers (patients) for every test, whether genetic or not. This includes the meaning of a positive, negative, or inconclusive result; the limitations of conclusions that can be drawn from the result; the possibility of strong emotional reactions to both negative and positive results; and the possible courses of action to consider in response to the result.
Physician-ordered testing is probably the best way to accomplish those goals, but direct-to-consumer testing is here to stay and may be appropriate for some individuals. Hopefully, the companies offering such testing are providing accurate and understandable information to help their clients make the best and safest use of their results.
As primary care physicians, we should encourage best practices among ourselves and DTC companies, and remain available to provide advice, interpretation, and specialty referral to patients who may have started down the path of DTC testing and later decide to seek our professional assistance.
Dr. Levy is with the division of general internal medicine and the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University, Baltimore. He reports having no conflicts of interest.