What cardiologists know, and don’t know, about genetic testing for heart disease
Genetic testing can help patients make important decisions about their cardiovascular health, according to a new scientific statement from the American Heart Association (AHA). But it’s a more effective decision-making tool for some patients than others.
The detailed analysis, published in Circulation: Genomic and Precision Medicine, highlights certain instances when genetic counseling and testing can make a massive difference in patient care. When focused on such conditions as cardiomyopathies, thoracic aortic aneurysms, arrhythmic disorders and familial hypercholesterolemia, for example, undergoing such genetic testing can be considerably informative for both patients and healthcare providers.
Genetic testing typically makes the most sense when patients have a confirmed diagnosis of an inherited cardiovascular disease or a gene abnormality has already been identified. Also, the statement’s authors emphasized, genetic counseling before and after testing is a powerful education tool for patients.
“With most genetic cardiovascular diseases, inheriting a mutation (or variant) from a parent substantially increases the risk of getting the disease but does not guarantee the disease,” lead author Kiran Musunuru, MD, PhD, MPH, ML, a professor of cardiovascular medicine and genetics at the Perelman School of Medicine at the University of Pennsylvania in Philadelphia, said in a statement. “In some cases, it might be possible to act early and prevent the disease. In other cases, having the mutation for a genetically caused cardiovascular condition might lead to different and possibly more aggressive treatment.”
Certain challenges still exist when it comes to genetic testing for cardiovascular conditions. For instance, the test may reveal a mutation that lands somewhere between being pathogenic and benign. These “uninterpretable” mutations don’t provide enough information to indicate if the patient is or is not at an increased risk of the disease in question.
Also, the authors explained, there are times when a patient has been diagnosed with an inherited condition and the testing simply doesn’t identify any mutations. This can be frustrating, especially for the patient who underwent genetic testing to learn new information.
“Another issue is that we have not yet clarified the full spectrum of genes that are responsible for various inherited cardiovascular diseases—we are still very much in discovery mode, with ongoing research efforts,” Musunuru said in the same statement. “Genetic testing methods are evolving, and reliable classification of variants identified in genetic testing will remain a preeminent challenge for the practice of clinical genetics.”
Click here to read the full scientific statement in Circulation: Genomic and Precision Medicine. The AHA’s Council on Genomic and Precision Medicine; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology all collaborated on the document.
Michael has more than 18 years of experience as a professional writer and editor. He has written at length about cardiology, radiology, artificial intelligence and other key healthcare topics.