Is DTC genetic testing without the guidance of a qualified professional doing more harm than good?
Point: For consumers to have DTC testing without the guidance of a qualified professional to interpret complex information is not in their best interest.
Many DTC genetic testing companies allow consumers to order their own tests and provide results, risk calculations, and interpretations to patients without any contact with a knowledgeable clinician. As illustrated in the BRCA vignette below, the information provided to patients with their results is often not only inaccurate and irresponsible but may be harmful or deadly to the patient and at-risk family members.
An undercover investigation of DTC testing companies revealed poor to nonexistent medical advice from supposed consult experts, in addition to possible privacy concerns.14 Although some DTC genetic testing companies offer genetic counseling as part of their services, the consumer needs to be aware that medical advice from an individual with a financial interest in the product or company may be biased.21,22 Much as patients would not contact a pharmaceutical company to ask whether they should take a drug it supplies, patients should be wary of receiving advice regarding genetic testing from a company that stands to profit directly from their decision.
The complex information provided by these DTC genetic tests for disease risk is at best difficult to interpret, and there is concern that patients and physicians may make important healthcare decisions based on this information without a clear understanding of the test limitations. 18,23 A 2008 survey of physicians found that among those aware of personal genomic testing, 15% had a patient who had brought in test results for discussion, and more than 50% indicated that such tests would influence their decisions regarding patient care.24 Similarly, McGuire et al found that a majority (78%) of consumers report that they would take results of DTC genetic testing to their healthcare providers.25 These findings lend credence to the concerns expressed by several authors that DTC genetic testing may lead to overuse of the healthcare system, including unnecessary clinician visits and follow-up evaluations or tests.18,22,25–28
Many professional societies have issued DTC testing opinion statements that address the concern for misinterpretation of genetic test results without an appropriately trained professional and the need for federal regulation to protect consumers.18,29–31 Very recently, the American Medical Association issued a letter to the US Food and Drug Administration urging the agency to recommend that genetic testing be carried out under the supervision of a qualified healthcare professional.32
Counterpoint: DTC is a new service delivery model and provides information to consumers who may otherwise not have genetic testing.
Some DTC testing companies have employed genetic counselors on staff to be proactive in addressing patients’ concerns and questions about their results. And, although bias is a concern, certified genetic counselors working for these companies can provide basic information to consumers and will hopefully refer them to outside professionals to verify test results in a CLIA (Clinical Laboratory Improvement Amendments)-approved laboratory, provide personalized result interpretations based on the patients’ personal and family histories, and provide long-term patient and family follow-up. Some patients who undergo DTC testing may not have sought clinic-based genetic counseling and testing. Thus, this new model of genetic testing may allow more consumers and their families to access and benefit from genetic information.
Conclusion
DTC genetic testing is now widely available, with companies offering testing for a broad variety of traits and diseases, including several cancers. The disease risk information provided is typically based on SNP panels without demonstrated clinical validity or utility and may also include testing for a limited number of high-risk gene mutations. It can be difficult for even a knowledgeable genetics expert to separate out these data based on the limited information provided by these companies.
Although proponents of DTC genetic testing cite increased access, privacy, patient autonomy, and improved genetics knowledge, there is increasing concern among the scientific, medical, ethical, and legal communities that such testing is misleading and potentially harmful to patients as well as society and thus should be subject to increased regulation.5,15,18,22,28,30,33 As such regulation will take time, patients who inquire about DTC genetic testing for cancer risk should be cautioned that the information they receive may be inaccurate and misleading. Insofar as this new model of genetic testing has the potential to reach many consumers who would not otherwise have accessed testing, potential benefit and minimization of harm can be facilitated by involvement of a qualified genetics professional to allow for appropriate test interpretation in the context of medical and family histories.