PO-04-125 SPECTRUM, PREVALENCE, AND IMPLICATIONS OF INCIDENTAL VARIANT FINDINGS IN CARDIAC DISEASE-ASSOCIATED GENES DURING PREVENTATIVE GENETIC TESTING

Classically, genetic testing has been reserved for individuals with a reasonable pre-test probability of disease. However, the use commercial preventative (PGT) to identify asymptomatic at risk various heritable disorders, most commonly those linked cancer and cardiovascular disease, increased significantly. To describe our experience regarding incidentally discovered pathogenic (P)/likely (LP) variants in otherwise healthy patients undergoing PGT. An institutionally developed natural language processing algorithm was used all who underwent PGT Mayo Clinic. The clinical characteristics, demographics, rationale PGT, family history, variant adjudication, cardiac work-up results whose result included channelopathy- or cardiomyopathy-inclusive panel were abstracted from electronic medical record. Overall, 666/1269 (52%) that had ACMG reportable heart disease (GHD)-susceptibility genes included. Of those, 10/666 (2%, 3 females, mean age time 59±10 years) an P/LP one 7 Clinical Genome Resource-adjudicated strong/definitive evidence GHD-susceptibility (DSG2, DSP, FLNC, KCNE1, MYBPC3 [n=2], MYH7 PKP2). Comprehensive recommended variant-positive pursued 8 (80%). Whereas no underlying channelopathy cardiomyopathy identified, 1 patient did have positive test ischemia. Interestingly, none strong (n=8) (n=1) gene further evaluation overt electrocardiographic imaging associated phenotype. Furthermore, history reviewed, consistent GHD question. 10 incidental upon there limited phenotype suggesting penetrance/expressivity these is exceedingly low. Patients considering should be counselled on rate identified findings as well potential psychosocial ramifications.