Purpose of review: The number of clinically available genetic tests for heritable cardiovascular diseases has recently increased because of novel gene discoveries and advancements in DNA sequencing technologies. The purpose of this review is to provide up-to-date genetic testing information and guidance on how to incorporate genetic testing into cardiovascular medicine.
Recent findings: Heritable cardiovascular conditions display vast genetic heterogeneity, genetic overlap between phenotypes, incomplete penetrance and variable expressivity, and are associated with risk for sudden cardiac death, making the practice of cardiovascular genetic medicine a great responsibility. Multigene testing panels now exist for many cardiovascular conditions, and test utility has recently been augmented by population-based genomic sequence datasets. Large amounts of DNA sequence data necessitate rigorous interpretation of this probabilistic information. Timely practice guidelines and expert statements have been published.
Summary: To fully realize the benefits of clinical genetic testing in cardiovascular medicine, clinicians must implement several components including judicious genetic testing, pretest and posttest genetic counseling, interpretation and application of genetic test results, and cascade family genetic testing and clinical screening. Components important to the proper integration of cardiovascular genetic medicine are offered.
aDivision of Human Genetics
bDorothy M. Davis Heart and Lung Research Institute, The Ohio State University College of Medicine
cDivision of Cardiovascular Medicine, Department of Internal Medicine, The Ohio State University College of Medicine, Columbus, Ohio, USA
Correspondence to Amy C. Sturm, MS, CGC, Division of Human Genetics, Department of Internal Medicine, The Ohio State University College of Medicine, 2001 Polaris Parkway, Columbus, OH 43240, USA. Tel: +1 614 293 6694; fax: +1 614 293 2314; e-mail: firstname.lastname@example.org