Top Things to Know: Establishment of Specialized Clinical Cardiovascular Genetics Programs Recognizing Standards
Published: May 23, 2019
- Cardiovascular (CV) genetics as a subspecialty has grown exponentially with the advances in genome sequencing and genetic testing and the expanding understanding of the genetic basis of multiple cardiac conditions including arrhythmias (channelopathies), heart failure (cardiomyopathies), lipid disorders, cardiac complications of neuromuscular conditions and vascular disease, including aortopathies.
- Challenges exist within this fast-growing area including interpretation of genetic test results and the evaluation, counseling and management of genetically at-risk family members who have inherited pathogenic variants, but do not yet manifest the disease.
- With these advances and challenges, specialized programs are needed that combine CV medicine and genetics expertise.
- This paper describes programs geared toward adults as well as children with heritable conditions .
- The benefits of special cardiovascular genetics programs (CVGPs) are described: integrated evaluation and management, the benefits of genetic testing, addressing challenges in genetic testing (misclassification as an example), and the training environment (how personnel are trained for this specialty).
- Appropriate personnel are paramount in a genetic program and identifying appropriate personnel and associated expertise is discussed in this paper.
- Resources for the evaluation and management are needed in a genetics program and include imaging and genetic counseling/testing.
- Procedural capabilities needed in specialized centers are cardiac electrophysiology, interventional cardiology, cardiothoracic surgery and vascular surgery.
- This statement discusses the structure of a CVGP, stakeholders that should be involved, and the steps involved in establishing a CVGP.
- A specialized genetic program that provides the integration of clinical CV findings, including those obtained from physical examination, imaging, and functional assessment, with genetic information allows for improved diagnosis, prognostication, and cascade family testing to identify and mange risk and in certain cases to provide genotype-specific therapy.
Citation
Ahmad F, McNally EM, Ackerman MJ, Baty LC, Day SM, Kullo IJ, Madueme PC, Maron MS, Martinez MW, Salberg L, Taylor MR, Wilcox JE, on behalf of the American Heart Association Council on Genomic and Precision Medicine, Council on Arteriosclerosis, Thrombosis and Vascular Biology, Council on Basic Cardiovascular Sciences, Council on Cardiovascular and Stroke Nursing, Council on Clinical Cardiology, and Stroke Council. Establishment of specialized clinical cardiovascular genetics programs: recognizing the need and meeting standards: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2019,12:e000054. doi: 10.1161/HCG.0000000000000054.