Genetic tests unexpectedly find genes linked to heart disease—now what?
- Health care 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.
- Incidentally identified variants in genes with an uncertain association with CVD should not be reported.
- If the discovered variant may increase the risk of CVD, a family history and medical evaluation by an expert health care professional are suggested, preferably a specialist working with or within a multidisciplinary team to address in 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.
- 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.
- Finally, the medical evaluation and genetic re-evaluation should guide next steps, which may vary from dismissing the incidental variant as not likely to cause CVD to starting medical interventions. This may also involve periodic re-evaluation with appropriate tests (echocardiogram, blood tests, etc.) and possibly screening other family members for the variant.
Source: Read Full Article