RYAN HARTMAN

CAPSTONE

Capstone Project Committee: Lauren Doyle, MGC, CGC; Emily Lisi, LCGC; Victoria Haverbusch, M.S., 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.

Since Graduation

Since graduating, Ryan has moved to Washington, DC and currently works at Inova Fairfax Medical Campus in Fairfax, Virginia. He was recently granted his certification after passing the genetic counseling boards.  He works primarily in the Cardiovascular Genomics Clinic working with a variety of providers including cardiologists to help coordinate genetic testing which helps guide management and treatment. He sees both pediatric and adult patients with a variety of conditions including: aortopathies, cardiomyopathies and arrhythmias. Since Ryan graduated in 2019 he has given lectures to students at the NIH and has presented at the ZIAI Pediatric Conference in Northern Virginia. He has also been a part of the Fetal Care Team at Inova Fairfax where he helps to facilitate testing for newborns with congenital heart disease, aneuploidy conditions and other rare disorders. Ryan is an integral part of the genetic education of medical students and residents that rotate through Inova’s Education arm.  Ryan is beyond thankful for the education he received at UNCG and the guidance from the program leadership and supervisors that continue to mold him into the best GC he can be.