AHA Advocates for Programs That Combine CV Medicine and Genetic Expertise

The American Heart Association (AHA) has expressed the need for the creation of specialized, multidisciplinary, clinical programs that combine focused expertise in the fields of genetics and cardiovascular medicine, according to a scientific statement from the organization.

“A patient who has a rare, genetic heart disease will benefit from specialized care from experts who know how to manage a disease that’s not familiar to the general cardiologist,” said Kiran Musunuru, MD, PhD, MPH, associate professor of cardiovascular medicine and genetics at the University of Pennsylvania and outgoing editor-in-chief of Circulation: Genomic and Precision Medicine. “Others having a close relative with an inherited heart disease can be screened to see if they have inherited genes that put them at risk for getting the disease in the future. If so, they can be monitored over time for early signs of disease and they can, in some cases, be treated to prevent the most serious consequences of the disease.”

There are currently few cardiovascular genetics programs, either wide-ranging or narrowly focused, that exist at academic centers. The AHA’s call for specialty programs has occurred when faster, cheaper, genetic testing has become more accessible and inheritable heart conditions are better understood. The authors of the statement acknowledged programs that combine clinical cardiovascular findings and genetic information allow for improved diagnoses, prognoses, and testing. They could help identify and manage risks, and in some cases, lead to genotype-specific therapy.

Challenges have arisen as the field of cardiovascular genetics has exponentially grown. These include interpreting genetic test results and evaluating, counseling, and managing individuals with inherited genetic alterations that are predisposed to a certain diseases, regardless of whether they have shown any signs or symptoms.

“The state of genetic understanding of some heart disorders has improved to the point that we can use this information to help families and offer hope in ways never before possible,” said Ferhaan Ahmad, MD, PhD, chair of the writing group for the statement, associate professor of cardiovascular medicine and molecular physiology and director of the cardiovascular genetics program with University of Iowa Health Care in Iowa City. “But it’s important that we have the right people, including medical geneticists and genetic counselors, as well as adequate facilities, equipment and other resources in place to provide clear and accurate guidance to these families throughout testing and decision-making processes.”

The statement addressed the necessary components required to create a quality specialized program, which included:

• leadership from a cardiologist skilled in genetics or a geneticist skilled cardiovascular medicine
• a core staff of cardiologists, medical geneticists, genetic counselors, nurse managers and clinic coordinators
• available facilities that could perform multiple types of cardiac imaging along with professionals that could interpret the findings and identify uncommon heart conditions
• facilities where heart procedures could be performed
• subspecialists capable of diagnosing and treating electrical problems in the heart, assessing heart function, surgically correcting structural problems of the heart, valves and aorta, and performing heart transplants
• genetic testing and access to counseling
• support from other specialists with expertise in sleep medicine, behavioral medicine, nutrition, social work and exercise physiology

Ahmad stated that treatment centers could also be used to provide genetics training to internal medicine residents, cardiology fellows, and pediatric residents.

Authors of the statement also mentioned that other types of genetic diseases could be diagnosed and treated at a specialized program, including those that cause excessively high levels of bad cholesterol, vascular disorders that weaken the aorta, and abnormalities of heart rhythm that increase the risk of sudden death. The authors acknowledged that a specialized program would be unrelated to the treatment of congenital heart defects.

The AHA expressed its preparedness to be part of educational efforts necessary to translate advancements in genetics into better care for families with heart disease.

“The American Heart Association, led by the Council on Genomic and Precision Medicine and the Institute for Precision Cardiovascular Medicine, is primed and ready to support the education of clinicians and researchers in genetics and data science through the Precision Medicine Platform,” said Jennifer Hall, PhD, chief of the AHA Institute for Precision Cardiovascular Medicine. “We're connecting clinicians and researchers by funding innovative data science, opening up new data sources with rich genetic information and allowing collaborators to analyze data in real time together on the Precision Medicine Platform in secure workspaces equipped with high performance computing and analytical tools.”

Reference

Growing cardiovascular genetics field calls for special multidisciplinary clinical programs to better identify and treat inherited heart conditions [news release]. American Heart Association; May 23, 2019. https://newsroom.heart.org/news/growing-cardiovascular-genetics-field-calls-for-special-multidisciplinary-clinical-programs-to-better-identify-and-treat-inherited-heart-conditions?preview=7d19. Accessed May 30, 2019.