Altered state brewing5/16/2023 ![]() ![]() "The list of incidental variants related to cardiovascular disease continues to evolve," Landstrom said. The report is the first to focus on inherited single-gene conditions that can be passed on within families, such as hypertrophic cardiomyopathy (a thickening of the heart walls) or long QT syndrome, where the heart electrically resets slower than normal after each contraction, sometimes leading to fainting, arrhythmias or sudden death. ![]() The variant itself needs to be re-evaluated periodically, because its link to disease may be reclassified, the report says.ĭepending on the variant, a full evaluation could lead to medical intervention, regular heart-specific tests or having relatives genetically screened.Īccording to the report, the American College of Medical Genetics and Genomics recognizes 42 clinically treatable, secondary variant genes that increase the risk of sudden cardiac death, heart failure and other types of cardiovascular disease. Landstrom said it was important to consult with genetics specialists "to custom tailor an evaluation and treatment plan" to the individual and the variant to ensure the highest level of care possible. It says health care professionals should relay information to patients only about variants that are known to be associated with cardiovascular disease and only if patients agreed to be informed.įor variants that may increase the risk of cardiovascular disease, the report suggests that a health care expert, preferably a specialist who is part of a multidisciplinary team, conduct a family history and a medical evaluation to look for symptoms. If an incidental variant for heart disease is found, the report suggests a way to classify the finding as benign, uncertain or disease-causing. The authors strongly encourage pretest genetic counseling for patients to discuss the possibility of unexpected findings, decide whether such findings will be communicated and look at potential implications for family members. The report offers a framework for health care professionals to assess individual variants, communicate findings with patients and their families and, when needed, create a multidisciplinary care team. "If we interpret these incidental variants incorrectly, it may lead to inappropriate care, either by suggesting patients have a risk of cardiac disease when they do not or by not providing care to those with increased risk for a serious condition." "Where we would once look for genetic changes in a handful of genes, we can now sequence every gene and, potentially, the whole genome, allowing us to make genetic diagnoses that would have been impossible in the past."īut the increased testing brings more surprises, including finding genes that might be associated with cardiovascular disease, said Landstrom, an associate professor of pediatrics and cell biology at Duke University School of Medicine in Durham, North Carolina. ![]() Landstrom, chair of the report's writing committee, said in a news release. "The scope and use of genetic testing have expanded greatly in the past decade with the increasing ease and reduced cost of DNA sequencing," Dr. ![]() But the report says that such "incidentally" identified single-gene variants may or may not be risk factors for disease and spells out ways to interpret results carefully. Such variants often are uncovered when people are screened for non-cardiac diseases or through home DNA testing kits. ![]()
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