The American Heart Association has released a new co-authored statement on Gene Testing and interpreting incidental identifications of genetic variants. Rapid advances in genetic technologies have led to expanding use of diagnostic, research, and direct-to-consumer exome and genome sequencing. Incidentally identified variants from this sequencing represent a significant and growing challenge to interpret and translate into clinical care and include variants in genes associated with heritable cardiovascular disease such as cardiac ion channelopathies, cardiomyopathies, thoracic aortic disease, dyslipidemias, and congenital/structural heart disease.
Sharon Cresci, MD, is an associate professor of medicine in the Cardiovascular Division and associate professor of genetics at Washington University School of Medicine in St. Louis. She is also the director of the Applied Genomics Core Laboratory for TRIUMPH (Translational Research Investigating Underlying disparities in acute Myocardial infarction Patients’ Health status) and associate director of the hypertropic cardiomyopathy center at Washing University and Barnes-Jewish Hospital.
Dr. Cresci shares that genetic technologies are rapidly advancing, expanding the use of exome and genome sequencing in diagnostics, research and by consumers, leading to incidental identification of genetic variants important to cardiovascular disease. Guidance is needed for the clinicians who evaluate patients with incidentally identified genetic variants in monogenic cardiovascular disease genes and to assist them in the interpretation of variants and providing appropriate clinical care.
“Diagnostic genetic testing has been an important component of the evaluation of heritable monogenic cardiovascular disease,” explains Cresci. “Gene testing is meant to be a guide for physicians to understand how to proceed and recognize when to include professionals in cardiac genetics in a patient’s care.”
By providing more information we can further help doctors and clinicians not overlook incidentally identified genetic variants, but to examine how they can use those results to pursue more ways to provide care for patients and their families.
The goal of this American Heart Association consensus statement is to provide guidance to clinicians who are called on to evaluate patients with incidentally identified genetic variants in monogenic cardiovascular disease genes and to assist them in the interpretation and clinical application of variants. The scientific statement outlines a framework through which clinicians can assess the pathogenicity of an incidental variant, which includes a clinical evaluation of the patient and the patient’s family and re-evaluation of the genetic variant in question. Furthermore, this guidance underscores the importance of a multidisciplinary team to address these challenging clinical evaluations and highlights how clinicians can effectively interface with specialty centers.
The American Heart Association and American Stroke Association publish medical guidelines and scientific statements on various cardiovascular disease and stroke topics. AHA/ASA volunteer scientists and healthcare professionals write the statements. The statements are supported by scientific studies published in recognized journals and have a rigorous review and approval process.