AHA releases guidelines on interpreting gene variants related to cardiovascular disease

The American Heart Association released guidelines on how to determine and communicate cardiovascular disease risk after genetic testing shows gene variants.

The statement, "Interpreting Incidentally Identified Variants in Genes Associated with Heritable Cardiovascular Disease," is the first to focus on inherited monogenic, or single-gene, diseases for cardiovascular disease, according to a March 27 news release from the organization.

"The scope and use of genetic testing have expanded greatly in the past decade with the increasing ease and reduced cost of DNA sequencing," Andrew Landstrom, MD, PhD, chair of the scientific statement writing committee and associate professor of pediatrics and cell biology at Duke University School of Medicine in Durham, N.C., said in the release. "However, with increased genetic testing comes more surprises, including finding unexpected variants in genes that might be associated with cardiovascular disease. 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."

There are 42 treatable, secondary variant genes that increase the risk of sudden cardiac death, heart failure and other types of cardiovascular disease. The statement provides a framework for interpreting the variants and taking action:

  • Healthcare professionals should relay information to patients about incidentally identified variants only if they are already known to be associated with cardiovascular disease and if patients agreed during pretest genetic counseling to be informed about incidental findings.

  • If the discovered variant may increase the risk of disease, a family history and medical evaluation by a healthcare professional are suggested. The goal of this evaluation is to determine if an individual has symptoms or warning signs in the family history.

  • The genetic variant itself should be reevaluated periodically by an expert to ensure the link remains accurate. As knowledge about a variant evolves over time, its link to disease may be reclassified.

  • The medical evaluation and genetic reevaluation should guide next steps, which could include periodic reevaluation or screening other family members for the variant.

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