Author Interviews, Genetic Research, Heart Disease / 11.08.2019

MedicalResearch.com Interview with: Ambry GeneticsNancy Niguidula, MS, DPH Doctorate in Public Health in Toxicology Ambry Genetics   MedicalResearch.com: What is the background for this study? Response: The clinical presentations of many inherited cardiovascular conditions overlap; thus, genetic testing may clarify diagnoses, help with risk stratification, facilitate appropriate clinical management decisions, and aid in identifying asymptomatic, at-risk relatives. A large number of professional societies have developed practice guidelines and recommendations for genetic testing of cardiovascular diseases. These include international and collaborative expert panels that establish genetic screening and treatment recommendations by drawing on evidence-based medicine. To further strengthen the clinical utility of cardiovascular genetic testing, the American College of Medical Genetics and Genomics (ACMG) published a guideline for 59 genes with clinical actionability that should be reported if found on whole exome sequencing, even when unrelated to the testing indication.