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The Deceptive Appeal of Direct-to-Consumer GeneticsThe Deceptive Appeal of Direct-to-Consumer Genetics

Wylie Burke, MD, PhD; and Susan Brown Trinidad, MA
[+] Article, Author, and Disclosure Information

This article was published at www.annals.org on 1 March 2016.

From University of Washington, Seattle, Washington.

Disclosures: Authors have disclosed no conflicts of interest. Forms can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M16-0257.

Requests for Single Reprints: Wylie Burke, MD, PhD, Department of Bioethics and Humanities, University of Washington, Box 357120, 1959 Northeast Pacific, Seattle, WA 98195; e-mail, wburke@u.washington.edu.

Current Author Addresses: Dr. Burke and Ms. Trinidad: Department of Bioethics and Humanities, University of Washington, Box 357120, 1959 Northeast Pacific, Seattle, WA 98195.

Ann Intern Med. 2016;164(8):564-565. doi:10.7326/M16-0257
© 2016 American College of Physicians
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According to van der Wouden and colleagues' study, consumers who purchase direct-to-consumer genetic tests find the marketing message compelling. The editorialists discuss the findings and why they believe that marketing these tests creates consumer expectations that cannot—and perhaps should not—be met by the health care system.

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Posted on April 21, 2016
Suzanne M Mahon RN DNSc AOCN APNG
Saint Louis University
Conflict of Interest: None Declared
Direct-to-consumer genetics (DTCG) is appealing despite policy statements from professional organizations warning that genetic testing should never be done without input from a primary care provider (PCP) and ideally a credentialed genetics professional (CGP).1 DTCG offers the consumer personal autonomy but consumers must be educated that such testing might be grossly incomplete or inappropriate.2
During the past year, 5 patients have been referred to my practice for evaluation of DTCG results in which they were found to have one of the founder mutations in persons of Ashkenazi Jewish ancestry3 who were totally unprepared for and devastated by the results. In each case the PCP correctly recognized further evaluation was appropriate. Unfortunately DTCG is far from comprehensive genetic assessment of hereditary risk and many individuals will incorrectly infer that risk is not increased because no mutation was detected. When patients discuss DTCG, PCPs must consider if testing was appropriate and complete given the patient’s personal and family history.
As van der Wouden et al. note PCPs need to engage directly about results. Even more importantly PCPs need to communicate that they are actively considering genetics/genomics in regular care.4 Publicity generated by Angelina Joli about hereditary cancer syndromes has raised awareness about the direct role of genetics in care.5 If patients do not feel PCPs are addressing their risk, they will be tempted to understand the risk through means such as DTCG which may be inadequate. Identifying patients at high risk for hereditary cancer predisposition is a standard of care for PCPs. Providers must obtain a comprehensive 3 generation family history updated annually, provide patients the required information based on family history needed to make educated decisions, document discussions with the patient within the medical record, and refer the patient to a CGP for more detailed evaluation when genetic risk is suspected. For example, failure to identify a patient at risk for inherited cancer predisposition, which may have led to increased surveillance or risk-reducing surgeries could result in liability for the PCP.
PCPs are uniquely positioned to identify patients at high risk for inherited predisposition, promote the appropriate referral to CGP for testing services, and facilitate risk management strategies in line with best practice guidelines. PCPs need to be aware of the limitations of DTCG and be prepared to discuss the role of genetics/genomics in care. Comprehensive care is best provided with a team approach that includes both PCPs and CGPs.

1. Skirton H, Goldsmith L, Jackson L, O'Connor A. Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations. Clinical Genetics. 2012;82(3):210-218.
2. Singleton A, Erby LH, Foisie KV, Kaphingst KA. Informed Choice in Direct-to-Consumer Genetic Testing (DTCGT) Websites: A Content Analysis of Benefits, Risks, and Limitations. Journal of Genetic Counseling. 2011;21(3):433-439.
3. Weitzel JN, Blazer KR, MacDonald DJ, Culver JO, Offit K. Genetics, Genomics and Cancer Risk Assessment: State of the art and future directions in the era of personalized medicine. CA: a cancer journal for clinicians. 2011;61(5):327-359.
4. van der Wouden CH, Carere DA, Maitland-van der Zee AH, Ruffin IVMT, Roberts JS, Green RC. Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic TestingPrimary Care Interactions After Direct-to-Consumer Genomic Testing. Annals of Internal Medicine. 2016;164(8):513-522.
5. Dean M. Celebrity Health Announcements and Online Health Information Seeking: An Analysis of Angelina Jolie’s Preventative Health Decision. Health Communication. 2016;31(6):752-761.
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