The Use of Direct-to-Consumer Genetic Testing in Evaluation of Genetic Disease Risk Perception

Faculty Advisor

Dr. David P. Gardner Ph.D

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Medicine and Health Sciences


Introduction: 23andMe provides consumers the opportunity to receive genetic information without involvement of a healthcare provider. As 23andMe continues to increase the number of variants and genetic diseases included in their health predisposition and carrier status reports, it is becoming apparent that direct-to-consumer genetic testing will play a role in the future of preventative medicine. Objective: The goal of this study is to gain knowledge of how participants interpret their own genetic information, their perceived risk of developing a genetic disease, and their perceived risk of passing a genetic disease to offspring. Methods: Thirty-two participants were sought to participate in the study. Participants were divided into four categories based on their experience in the biomedical sciences. A “gold standard” group composed of genetic counselors was used as a control. Partic-ipants were asked to complete 23andMe’s Health + Ancestry package. After reviewing their genetic results, participants completed a questionnaire analyzing how they interpreted their results and how they might use their results in the future. Results: Preliminary results demonstrate that most participants have a basic under-standing of genetic concepts and inheritance patterns of genetic disease. However, less comprehension of genetic reports was observed when participants were asked about specific genetic diseases and/or tested variants. Participants did not report a high level of concern for developing a genetic disease or passing a genetic disease to offspring and reported they do not plan to consult a genetic counselor about their results at this time. Further, participants reported high self-efficacy with interpreting their results. Conclusions: Preliminary findings demonstrate that while most participants under-stand basic genetic concepts and inheritance patterns, their comprehension of more detailed genetic concepts is lower when compared to genetic counselors. When combined with a high reported self-efficacy with the presented genetic information, participants may feel falsely-reassured by their results.


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