Abstract
BackgroundLarge gene panels are now commonplace for hypertrophic cardiomyopathy (HCM), increasing the yield of uncertain genetic findings. Few resources exist which aim to facilitate communication of HCM genetic test results. We sought to develop, pilot, and refine a communication aid for probands receiving HCM genetic test results.MethodsDevelopment was a multi-step process involving expertise of a multidisciplinary team, literature review, and empirical experience. The aid went through an iterative revision process throughout the piloting phase to incorporate feedback. HCM probands attending a specialized multidisciplinary HCM clinic, aged ≥ 18 years and genetic test results available for disclosure between May and August 2016, or recently received their gene results (January–April 2015) were eligible. A purposive sampling strategy was employed, recruiting those attending clinic during the study period or those who could attend without difficulty.ResultsWe developed and pilot tested a genetic counsellor-led communication aid. Based on clinical expertise, the aid addresses (a) what genetic testing is, (b) implications for the patient, (c) reasoning for variant classification, and (d) implications for the family. Pilot data were sought to assess knowledge, feasibility, and acceptability using a self-report survey 2 weeks post-intervention. Twelve of 13 participants completed the follow-up questionnaire. Participants valued the individualised nature of the aid, recommended use of the aid, and indicated genetic knowledge, and family communication was better facilitated. Iterative modification of images helped to more simply depict important genetic concepts.ConclusionsWe have developed a tool that is feasible, acceptable, and helpful to patients receiving genetic results. This is an important first step, and trial of the aid to assess effectiveness compared to usual care will follow.
Highlights
Large gene panels are commonplace for hypertrophic cardiomyopathy (HCM), increasing the yield of uncertain genetic findings
HCM is inherited as an autosomal dominant trait, and genetic variants in at least 15 genes have been identified as causing HCM [5, 6]
Satisfaction with genetic counseling Patients were highly satisfied with the return of their results utilizing the communication aid as indicated by the scores from the satisfaction with genetic counseling scale
Summary
Large gene panels are commonplace for hypertrophic cardiomyopathy (HCM), increasing the yield of uncertain genetic findings. Pilot, and refine a communication aid for probands receiving HCM genetic test results. Molecular diagnostic yield can vary based on clinical and family history characteristics [7,8,9], and many probands will undergo genetic testing and have no causative variant identified (i.e., an indeterminate result) [6]. The key utility of HCM genetic testing is for cascade genetic testing of asymptomatic relatives. Those found to be non-mutation carriers are excused from further clinical surveillance, alleviating unnecessary health costs and worry, making genetic testing a cost-effective component of HCM family management [10, 11]
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