Professional Issues

Journal of Genetic Counseling

, Volume 21, Issue 3, pp 361-366

First online:

Direct-to-Consumer Genetic Testing: What Are We Talking About?

  • Meredith WeaverAffiliated withDepartment of Pediatrics, University of Maryland School of Medicine
  • , Toni I. PollinAffiliated withDepartments of Medicine and Epidemiology & Public Health, University of Maryland School of Medicine Email author 

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The term Direct-to-Consumer (DTC) genetic testing refers to many different categories of testing. This editorial addresses the issues related to DTC testing for large effect and small effect variants associated with disease. In particular, there are issues of clinical validity and utility, informativeness and residual risk. Genetic counselors are poised to address these issues because of their training in probability and statistical models. The authors suggest that genetic counselors can impact the general public’s understanding of DTC test results by: including evaluation of DTC concepts in graduate program curricula, holding AEC plenary sessions about emerging DTC concepts, and helping other professionals understand DTC concepts. Importantly, genetic counselors are advised to continue doing and promoting rigorous research on how people access and use DTC genetic testing and results, as well as gathering empirical data so that discussions of harms and benefits can go beyond theory. It is our hope that genetic counselors in practice will continue to critically evaluate claims made about emerging new tests, including those marketed DTC, in order to provide the best possible services to our patients.


Direct-to-Consumer genetic testing Common complex disease Mendelian disease Small effect variants Large effect variants