Background: Despite consensus guidelines, only about half of at-risk relatives in families with Hypertrophic Cardiomyopathy (HCM) undergo clinical screening and even fewer undergo predictive genetic testing, leaving those unscreened at risk for sudden cardiac death. The use of qualitative inquiry to examine family communication and complex factors influencing uptake of screening may inform interventions to increase uptake and prevent sudden cardiac death.
Purpose: The purpose of this study was to describe the engagement of at-risk relatives in family screening for HCM.
Specific Aims: The specific aims were to (1) Describe the experience of communication of genetic risk of HCM in families with a causative variant for HCM; (2) Use the Theory of Engagement to identify facilitators and barriers to family screening in families with a causative variant for HCM; and (3) Identify strategies to increase uptake of clinical screening and predictive genetic testing in families with a causative variant for HCM.
Framework: The Theory of Engagement, adapted from McAllister, was used as an initial framework for the study.
Methods: A qualitative descriptive design with purposive and snowball sampling was used and data were analyzed using qualitative content analysis.
Results: The overarching theme of Bringing Genetic Risk to the Foreground was comprised of three major themes: Cues to Action, Preferences for Knowledge and Gateways to Screening, reflecting factors that affect engagement with genetic risk and family screening throughout the lifespan.
Conclusions: Integrated longitudinal care and access to genetic specialists are needed for patients and families with a causative variant for HCM.
| Identifer | oai:union.ndltd.org:umassmed.edu/oai:escholarship.umassmed.edu:gsn_diss-1070 |
| Date | 01 December 2018 |
| Creators | Glowny, Michelle G. |
| Publisher | eScholarship@UMMS |
| Source Sets | University of Massachusetts Medical School |
| Detected Language | English |
| Type | text |
| Format | application/pdf |
| Source | Graduate School of Nursing Dissertations |
| Rights | Copyright © 2018 Glowny, http://creativecommons.org/licenses/by/4.0/ |
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