Best Practices Defined for Genetic Testing in Cardiac & Vascular Diseases

By Daniel Brantley
Tuesday, December 1, 2020

Genetic testing for certain cardiovascular diseases may provide insight for patient care.

In recent years, the understanding and use of genomics to enhance patient health have received significant attention. While genomics is seen in a growing number of medical specialties, research for its use within cardiovascular medicine has been lacking. As it stands, genomics as a diagnostic and treatment tool for cardiovascular disease has captured the attention of some physicians, but the question of when it is appropriate to utilize such technology is now being asked and answered. Recently, the American Heart Association released a scientific statement outlining current best practices for utilizing genetic testing in cardiovascular patients.

Operating on behalf of a conglomerate of organizations focused on cardiovascular concerns — including the American Heart Association Council on Genomic and Precision Medicine; the Council on Arteriosclerosis, Thrombosis and Vascular Biology (ATVB); the Council on Cardiovascular and Stroke Nursing; and the Council on Clinical Cardiology — a group of medical researchers led by Kiran Musunuru, MD, PhD, MPH, ML, Director of the Genetic and Epigenetic Origins of Disease Program at the University of Pennsylvania Perelman School of Medicine (Philadelphia), wrote the AHA scientific statement detailing the appropriateness of genetic testing for heart disease.

When to Use Cardiovascular Genetic Testing

A family history of heart disease alone is not sufficient cause for heart-related genetic testing, as only certain cardiovascular conditions are inheritable. The AHA scientific statement clarifies that genetic testing should be reserved for individuals with diagnosed or suspected inherited heart conditions, including:

  • Arrhythmias
  • Cardiomyopathies
  • Familial hypercholesterolemia
  • Thoracic aortic aneurysms and dissections

In addition to the suspicion or presence of one of these conditions, individuals may also be candidates for genetic testing for cardiovascular disease if family members have undergone genetic testing and were found to have a genetic predisposition to heart disease. Early adopters of new technology and medical advances may be encouraged by the potential of genetic testing; however, Dr. Musunuru cautions against overutilization at this point.

“Although genetic testing has seen explosive growth in the past few years, both in the clinical setting and with direct-to-consumer testing, genetic testing for heart disease should be reserved for specific patients,” Dr. Musunuru stated in an AHA press release from July 2020.

Patients who are currently candidates for cardiovascular genetic testing are those with a considerable family history of heart disease. Research has found genetic testing to be most beneficial amongst those whose family history of heart disease runs at least three generations deep.

Why Utilize Genetic Testing for Heart Disease

As with other disease processes, heart disease affects each individual in unique ways. As such, customized treatment methods ensure optimal outcomes. This is a primary purpose of genetic testing for heart disease.

“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,” Dr. Musunuru said in the press release. “In some cases, it might be possible to act early and enough to prevent development of the disease. In other cases, having the mutation for a genetically caused cardiovascular condition might lead to different and possibly more aggressive treatment.”

Instead of providing the same care for each individual patient with cardiovascular disease, genetic testing and genomics empowers physicians to offer a customized treatment approach that fits the individual and his or her condition. Ultimately, understanding the genetics behind heart disease may help physicians and patients work together on customized ways to avoid cardiovascular disease in the future.

For many patients, any personal gains from genetic testing to identify the potential for cardiovascular disease are outweighed by benefits to their loved ones. Once a genetic predisposition for heart disease is identified, the patient can tell other family members about the potential for disease. As these genes are inheritable, there is an increased likelihood that family members may also be affected. This knowledge allows them to make appropriate health choices to protect their heart now and in the future. All the plausible benefits aside, the scientific paper also reminds us the importance of genetic counseling for patients undergoing such testing and making both patients and providers aware of the possible downsides, not the least of which is potential for discrimination from life and disability insurers as well as health insurers for employers with less than 15 employees.