Genetic Counseling

School of Health and Human Sciences

Genetic Testing and Athletics: Does a Cardiogenetic Result Impact Participation
 
Capstone Project Committee: Lauren Doyle, MGC, CGC, Emily Lisi, LCGC, Victoria Haverbusch, MS, CGC
 
Several cardiology conditions are now being evaluated through a genetic lens due to the discovery of disease-related genes. Cardiologists are ordering and interpreting genetic testing at a much higher rate. Clinical decision making, such as when to restrict athletic participation, can be difficult in the presence of a pathogenic variant, in part due to lack of guidelines. Additionally, results identifying variants of uncertain significance (VUS) results creates ambiguity for making clinical recommendations. Cardiologists who practice at Hypertrophic Cardiomyopathy Centers of Excellence were invited to participate in a survey that aimed to identify their reactions to genetic testing results across multiple different genetic conditions with cardiac manifestations and how these results would affect their recommendations for athletic participation. Cardiologists interpreted the scenarios in different ways and their recommendations regarding athletic participation were not always universal. There was a high reliance on clinical information for most of the scenarios and therefore a majority of the cardiologists did not think a genetic testing result alone should warrant athletic restriction. There was also not a general consensus regarding how uncertain results impact athletic participation. This study demonstrated that ambiguity in a genetic test result in combination with a lack of guidelines for clinical care may result in inconsistent recommendations regarding athletic participation.
 

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