A new American Heart Association scientific statement helps interpret incidentally found gene variants that may be associated with cardiovascular disease risk. As healthcare professionals, researchers, and consumers increasingly use genetic testing, they are uncovering incidental genetic abnorm
The growing prevalence of genetic testing among healthcare professionals, researchers, and consumers has led to the discovery of incidental genetic abnormalities linked to cardiovascular diseases. However, the AHA warns that not all identified single gene variants necessarily indicate risk factors.
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. An American Heart Association scientific statement is an expert analysis of current research and may inform future guidelines.
“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.” 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.
The genetic variant itself should be re-evaluated periodically by an expert or expert team to ensure whether the CVD link remains accurate. As knowledge about a variant evolves over time, its link to disease may be reclassified.
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