Genetics of HCM and role of genetic testing

Abstract

Since 1989, major advances have been made in our understanding of the genetic basis of HCM. Our genetic advances have led to a complete re-definition of HCM as a complex medical genetic disorder of the sarcomere. To date, over 1,300 mutations in at least 13 disease genes have been identified in patients with HCM. This genetic information has had its greatest impact in the setting of predictive testing in at-risk family members. The genetic testing process in HCM requires a multidisciplinary approach, which includes the cardiologist, genetic counselor, geneticists, and patient support groups. Careful phenotyping of HCM patients, comprehensive pre- and post- test genetic counseling, careful interpretation of the genetic reports, and systematic application of the genetic result in the setting of the HCM family are all key components of care. The latest genetic technologies, including whole genome sequencing, will likely translate to a greater understanding of the genetic and molecular underpinnings of HCM.