Pathogenicity of hypertrophic cardiomyopathy variants: a path forward together

摘要: 2 Ingles et al Editorial Based on the Study by Furqan et al to asymptomatic relatives. This has been previously shown to be cost-effective in addition to current clinical screening recommendations because gene-negative family members can be released from lifelong surveillance and unnecessary worry. 10, 11 At numerous stages of the process, care must be taken, but especially when interpreting variants identified during genetic testing. The dangers of incorrect variant classification can be serious. For the family, asymptomatic relatives who are shown not to carry the variant may be inappropriately released from clinical screening, given incorrect reassurance that they are not at risk of developing HCM and that their children are likewise not at risk. Alternatively, those relatives who test positive will think they are gene carriers and potentially undergo unnecessary clinical surveillance and worry. Awareness of the …