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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 individua l 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. n The Promise & Current Reality of Genomics in Cardiovascular Medicine A LTHOUGH MUCH IS yet to be learned, researchers including 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) have great expectations of genomics in cardiology. Dr. Musunuru and others are studying genomics with the goal of creating a vaccine to protect against heart attack and other cardiovascular diseases. Such an advancement would change the face of medicine forever, possibly reducing or even eliminating cardiovascular disease as the primary cause of death worldwide. As promising as genetic testing for cardiovascular disease may be, it continues to have a limited scope at this time. In addition to only benefiting a subset of patients, genetic test- ing for cardiovascular disease has two other limiting factors, regardless of the test's outcome. + Positive test results indicate the presence of a gene variant that is known to cause cardiovascular disease. This does not necessarily indicate the disease will develop during the gene carrier's lifetime or — if the disease develops — how it will present. It is in the patient's hands to seek appropriate follow-up care to make the best use of the knowledge + Negative test results indicate a lack of the various genes that are known to cause cardiovascular diseases. Such a result does not mean an individual will not one day be diagnosed with inheritable heart disease. Rather, a nega- tive diagnosis indicates that those genes known to cause cardiovascular were not present at the time of testing. As additional genes continue to be discovered, genetic testing for cardiovascular disease continues to improve, but it may never be perfect. "We are still very much in discovery mode, with ongoing research efforts," Dr. Musunuru says. "Genetic testing methods are evolving, and reliable classification of variants identified in genetic testing will remain a pre- eminent challenge for the practice of clinical genetics." M D N E W S . C O M /// M D N E W S C E N T R A l N E W Y O R K ■ 2 0 21 1 3