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Factors Associated with Uptake of Genetics Services for Hypertrophic Cardiomyopathy

  • Original Research
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Journal of Genetic Counseling

Abstract

Hypertrophic cardiomyopathy (HCM) is a common cardiovascular disorder with variable expressivity and incomplete penetrance. Clinical guidelines recommend consultation with a genetics professional as part of an initial assessment for HCM, yet there remains an underutilization of genetics services. We conducted a study to assess factors associated with this underutilization within the framework of the Health Belief Model (HBM). An online survey was completed by 306 affected individuals and at risk family members. Thirty-seven percent of individuals (113/306) had visited a genetics professional for reasons related to HCM. Genetic testing was performed on 53 % (162/306). Individuals who had undergone testing were more likely to have seen a genetics professional (p < 0.001), had relatives with an HCM diagnosis (p = 0.002), and have a known familial mutation (p < 0.001). They were also more likely to agree that genetic testing would satisfy their curiosity (p < 0.001), provide reassurance (p < 0.001), aid family members in making healthcare decisions (p < 0.001), and encourage them to engage in a healthier lifestyle (p = 0.002). The HBM components of cues to action and perceived benefits and barriers had the greatest impact on uptake of genetic testing. In order to ensure optimal counseling and care for individuals and families with HCM, awareness and education around HCM and genetic services should be promoted in both physicians and patients alike.

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Acknowledgments

We wish to thank the Hypertrophic Cardiomyopathy Association for their support with recruitment. We also wish to acknowledge Dr. Dina Shatnawai, Maria Barth and the Stanford Statistical Consulting service for assistance in statistical analysis methods, as well as Amanda Cyr, Tim Allen Dunnagan, George Haynes, Kim Vande Wydeven, Megan Grove and Kristen Dilzell for their assistance with survey development and manuscript revision. Thank you to Mildred Cho, Nanibaa’ Garrison and the Stanford Center for Integration of Research on Genetics and Ethics. Lastly, we wish to thank the survey respondents for their participation in this research. This work was supported by funding through the National Society of Genetic Counselors Cardiovascular Special Interest Group and the MS Program in Human Genetics and Genetic Counseling at Stanford University.

Conflict of Interest

Amirah Khouzam Andrea Kwan, Samantha Baxter and Jonathan A. Bernstein declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all participants for being included in the study.

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Authors and Affiliations

  1. Department of Genetics, Stanford University, Stanford, CA, USA

    Amirah Khouzam & Andrea Kwan

  2. Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Dr. H-315, Stanford, CA, 94305, USA

    Andrea Kwan & Jonathan A. Bernstein

  3. Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine, Cambridge, MA, USA

    Samantha Baxter

Authors
  1. Amirah Khouzam
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  2. Andrea Kwan
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  3. Samantha Baxter
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  4. Jonathan A. Bernstein
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Correspondence to Jonathan A. Bernstein.

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Khouzam, A., Kwan, A., Baxter, S. et al. Factors Associated with Uptake of Genetics Services for Hypertrophic Cardiomyopathy. J Genet Counsel 24, 797–809 (2015). https://doi.org/10.1007/s10897-014-9810-8

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  • DOI: https://doi.org/10.1007/s10897-014-9810-8

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