The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication

• Main Authors: Stephanie Harris, Allison L. Cirino, Christina W. Carr, Hiwot M. Tafessu, Siddharth Parmar, Jeffrey O. Greenberg, Lara E. Szent‐Gyorgyi, Roya Ghazinouri, Michelle G. Glowny, Kara McNeil, Efthalia F. Kaynor, Catherine Neumann, Christine E. Seidman, Calum A. MacRae, Carolyn Y. Ho, Neal K. Lakdawala
• Format: Article
• Language: English
• Published: Wiley 2019-11-01
• Series: Molecular Genetics & Genomic Medicine
• Subjects: cascade screening; family communication; genetic testing; hypertrophic cardiomyopathy; uptake
• Online Access: https://doi.org/10.1002/mgg3.940

Abstract Background Individuals with hypertrophic cardiomyopathy (HCM), even when asymptomatic, are at‐risk for sudden cardiac death and stroke from arrhythmias, making it imperative to identify individuals affected by this familial disorder. Consensus guidelines recommend that first‐degree relatives (FDRs) of a person with HCM undergo serial cardiovascular evaluations. Methods We determined the uptake of family screening in patients with HCM and developed an online video intervention to facilitate family communication and screening. Family screening and genetic testing data were collected through a prospective quality improvement initiative, a standardized clinical assessment and management plan (SCAMP), utilized in an established cardiovascular genetics clinic. Patients were prescribed an online video if screening of their FDRs was incomplete and a pilot study on video utilization and family communication was conducted. Results Two‐hundred and sixteen probands with HCM were enrolled in SCAMP Phase I and 190 were enrolled in SCAMP Phase II. In both phases, probands reported that 51% of FDRs had been screened (382/749 in Phase I, 258/504 in Phase II). Twenty patients participated in a pilot study on video utilization and family communication. Nine participants reported watching the video and six participants reported sharing the video with relatives; however only one participant reported sharing the video with relatives who were not yet aware of the diagnosis of HCM in the family. Conclusion Despite care in a specialized cardiovascular genetics clinic, approximately one half of FDRs of patients with HCM remained unscreened. Online interventions and videos may serve as supplemental tools for patients communicating genetic risk information to relatives.