Determining pathogenicity in cardiac genetic testing: Filling in the blank spaces

Major advances have been made in our understanding of the genetic basis of inherited heart diseases. The clinical benefits of genetic testing are unequivocal, with the greatest clinical utility being cascade (predictive) testing of relatives after the identification of the pathogenic (disease-causing) mutation in the family proband [1]. Since over 90% of genetic heart diseases are inherited as an autosomal dominant trait, offspring of clinically or genetically affected individuals have a 50% chance of carrying the same mutation and therefore at risk of developing disease.
Source: Trends in Cardiovascular Medicine - Category: Cardiology Authors: Tags: Editorial Commentary Source Type: research