The American Heart Association has issued a new scientific statement to help individuals and healthcare professionals determine the risk associated with genetic variants linked to cardiovascular disease. With the increased ease and reduced cost of DNA sequencing, genetic testing has become more prevalent, leading to the discovery of incidental genetic abnormalities linked to cardiovascular disease. However, not all identified single gene variants necessarily indicate risk factors. The new scientific statement offers a framework to support healthcare professionals in appropriately assessing individual genetic variants, communicating findings with patients and families, and, when needed, creating a strong multidisciplinary team for individualized care. The statement also recommends that genetic variants associated with cardiovascular disease require periodic expert re-evaluation to ensure their accuracy, and medical evaluation and genetic re-evaluation should guide next steps.
American Heart Association Issues Guidelines for Gene Variants Associated with Cardiovascular Disease Risk
Genetic testing has become increasingly prevalent among healthcare professionals, researchers, and consumers, resulting in the discovery of genetic abnormalities that may be associated with cardiovascular diseases. However, the American Heart Association (AHA) warns that not all identified single gene variants are necessarily risk factors for cardiovascular disease.
To address this issue, the AHA has issued a new scientific statement, “Interpreting Incidentally Identified Variants in Genes Associated with Heritable Cardiovascular Disease,” which provides a framework for healthcare professionals to accurately assess genetic variants, communicate results with patients and their families, and establish robust multidisciplinary teams for tailored care when necessary.
The AHA statement writing committee cautions that incidentally identified single gene variants may or may not be risk factors for disease, so it is important to interpret them correctly and cautiously. The new scientific statement offers guidance to support healthcare professionals in appropriately assessing individual genetic variants, communicating findings with patients and families, and, when necessary, creating a strong multidisciplinary team for individualized care.
The discovery of gene variants associated with cardiovascular disease risk is often incidental, as people undergo genetic testing for non-cardiac reasons such as screening or diagnosis of other diseases. Unexpected genetic variants may also be discovered through direct-to-consumer DNA testing kits.
The AHA statement provides support to healthcare professionals on how to communicate with people and their families and suggests appropriate follow-up actions to care for those deemed to have higher risk for cardiovascular disease.
Overall, the AHA guidelines aim to help individuals and healthcare professionals understand how to appropriately interpret and respond to the discovery of gene variants associated with cardiovascular disease risk.
Pretest Genetic Counseling Encouraged for Incidental Genetic Variants Associated with Cardiovascular Disease
The increasing use of genetic testing has led to the discovery of genetic abnormalities linked to cardiovascular disease. To prepare patients for the possibility of incidental findings, pretest genetic counseling is strongly encouraged. The American Heart Association (AHA) warns that not all identified single gene variants are necessarily risk factors for cardiovascular disease. Interpretation of these incidental variants is critical to ensuring appropriate care, as incorrect interpretation may result in inappropriate care or failure to provide care to those at risk.
The AHA has issued a new scientific statement, “Interpreting Incidentally Identified Variants in Genes Associated with Heritable Cardiovascular Disease,” which focuses on inherited monogenic, or single-gene, diseases for cardiovascular disease. There are currently 42 clinically treatable, secondary variant genes that increase the risk of sudden cardiac death, heart failure, and other types of cardiovascular disease.
Genetic variants that cause long QT syndrome, for example, can cause the heart to electrically reset slower than normal after each contraction, leading to electrical instability of the heart and potentially causing fainting, arrhythmias, or sudden death.
The statement authors suggest a framework for interpreting incidental genetic variants for cardiovascular disease, based on whether the variant is classified as benign, uncertain, or pathogenic (disease-causing). Healthcare professionals should only relay information to patients about incidentally identified variants if they are among the cardiovascular disease genes already known to be associated with CVD and if patients agreed during pretest genetic counseling to be informed about incidental findings.
If the discovered variant may increase the risk of CVD, a family history and medical evaluation by an expert healthcare professional are suggested, preferably a specialist working within a multidisciplinary team to address the disease in question. The goal of this evaluation is to determine whether the individual has evidence of the disease, such as symptoms or relevant test results, or if there are any warning signs in the family history.
Overall, pretest genetic counseling is critical for patients undergoing genetic testing for cardiovascular disease to prepare them for the possibility of incidental findings and potential implications for themselves and their family members. The AHA guidelines provide a framework for appropriately interpreting incidental genetic variants and ensuring appropriate care for those at risk.
Expert Re-Evaluation Critical for Genetic Variants Linked to Cardiovascular Disease
Genetic variants associated with cardiovascular disease require periodic expert re-evaluation to ensure their accuracy. As knowledge about a variant evolves over time, its link to disease may be reclassified. A medical evaluation and genetic re-evaluation should guide next steps, which may vary from dismissing the incidental variant to starting medical interventions.
The list of incidental variants related to cardiovascular disease continues to evolve, making it critical to consult with genetics specialists to custom-tailor an evaluation and treatment plan. This ensures the highest level of care possible for individuals with a genetic variant linked to cardiovascular disease and their healthcare professionals.
The American Heart Association (AHA) has issued a new scientific statement, “Interpreting Incidentally Identified Variants in Genes Associated with Heritable Cardiovascular Disease,” which provides a foundation of care for individuals with a genetic variant linked to cardiovascular disease. The statement aims to help individuals and their healthcare professionals determine the individual and familial risk that a variant may or may not carry.
The AHA statement is the first to focus on inherited monogenic, or single-gene, diseases for cardiovascular disease, which can be passed on within families. The statement provides a framework for appropriately interpreting incidental genetic variants and ensuring appropriate care for those at risk.
Overall, expert re-evaluation is critical for individuals with a genetic variant linked to cardiovascular disease. Genetic variants associated with cardiovascular disease require periodic expert re-evaluation to ensure their accuracy, and medical evaluation and genetic re-evaluation should guide next steps. Healthcare professionals should consult with genetics specialists to custom-tailor an evaluation and treatment plan to both the individual and the genetic variant to ensure the highest level of care possible.
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