The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication
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 relative...
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doaj-b800619684d7498f8da08e6eedcb416f2020-11-25T00:58:53ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-11-01711n/an/a10.1002/mgg3.940The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communicationStephanie Harris0Allison L. Cirino1Christina W. Carr2Hiwot M. Tafessu3Siddharth Parmar4Jeffrey O. Greenberg5Lara E. Szent‐Gyorgyi6Roya Ghazinouri7Michelle G. Glowny8Kara McNeil9Efthalia F. Kaynor10Catherine Neumann11Christine E. Seidman12Calum A. MacRae13Carolyn Y. Ho14Neal K. Lakdawala15Cardiovascular Division Brigham and Women’s Hospital Boston MassachusettsCardiovascular Division Brigham and Women’s Hospital Boston MassachusettsDepartment of Medicine Brigham and Women’s Hospital Boston MassachusettsDepartment of Medicine Brigham and Women’s Hospital Boston MassachusettsDepartment of Medicine Brigham and Women’s Hospital Boston MassachusettsDepartment of Medicine Brigham and Women’s Hospital Boston MassachusettsDepartment of Medicine Brigham and Women’s Hospital Boston MassachusettsDepartment of Medicine Brigham and Women’s Hospital Boston MassachusettsCardiovascular Division Brigham and Women’s Hospital Boston MassachusettsCardiovascular Division Brigham and Women’s Hospital Boston MassachusettsCardiovascular Division Brigham and Women’s Hospital Boston MassachusettsCardiovascular Division Brigham and Women’s Hospital Boston MassachusettsCardiovascular Division Brigham and Women’s Hospital Boston MassachusettsCardiovascular Division Brigham and Women’s Hospital Boston MassachusettsCardiovascular Division Brigham and Women’s Hospital Boston MassachusettsCardiovascular Division Brigham and Women’s Hospital Boston MassachusettsAbstract 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.https://doi.org/10.1002/mgg3.940cascade screeningfamily communicationgenetic testinghypertrophic cardiomyopathyuptake |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
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 |
spellingShingle |
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 The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication Molecular Genetics & Genomic Medicine cascade screening family communication genetic testing hypertrophic cardiomyopathy uptake |
author_facet |
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 |
author_sort |
Stephanie Harris |
title |
The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication |
title_short |
The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication |
title_full |
The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication |
title_fullStr |
The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication |
title_full_unstemmed |
The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication |
title_sort |
uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication |
publisher |
Wiley |
series |
Molecular Genetics & Genomic Medicine |
issn |
2324-9269 |
publishDate |
2019-11-01 |
description |
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. |
topic |
cascade screening family communication genetic testing hypertrophic cardiomyopathy uptake |
url |
https://doi.org/10.1002/mgg3.940 |
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