Graduate School of Nursing Dissertations

ORCID

0000-0003-2861-2271

Publication Date

2018-12

Document Type

Dissertation, Doctoral

Department

Graduate School of Nursing

Dissertation Committee Chair

Dr. Carol Bova

Keywords

Hypertrophic cardiomyopathy, engagement, family screening, qualitative

Subject Categories

Cardiovascular Diseases | Community Health and Preventive Medicine | Health Communication | Health Services Administration | Nursing | Public Health Education and Promotion

Abstract

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.

Rights and Permissions

Copyright © 2018 Glowny

Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

Share

COinS
 
 

To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.