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Impediments to DNA Testing and Cascade Screening for Hypertrophic Cardiomyopathy and Long QT syndrome: A Qualitative Study of Patient Experiences

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Journal of Genetic Counseling

Abstract

This paper reports data from a qualitative study of patient experiences of DNA testing and cascade screening for hypertrophic cardiomyopathy and long QT syndrome, cardiac conditions that place sufferers at risk of sudden death. The paper particularly focuses on potential impediments to testing and screening. Semi-structured interviews were undertaken with a purposive sample of 27 people in the UK who had undergone testing. In the context of the uncertainties that can characterize experiences of these disorders, the majority of participants in this sample embraced testing and screening as a way of providing health information for themselves or their relatives (particularly children). There was nevertheless evidence of ambivalence about the value and impact of the DNA test information which could influence participants’ dispositions toward testing, and play into dilemmas about family communication. Other concerns arose in relation to communicating about these disorders, decisions to involve elderly relatives and pressures relating to family responsibility. The evidence of ambivalence provides insight into why some people may be resistant to testing, screening and sharing information. The findings about communication processes indicate potential areas of concern for the cascading process.

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Acknowledgements

This work was funded by the Oxford Genetics Knowledge Park, with support from colleagues in Ethox (M. Parker), GKP management (J. Taylor, S. Dopson), Cardiovascular Medicine (H. Watkins), Genetics (E. Blair) and the Oxford Molecular Genetics Laboratory (A. Seller, K. Thomson). Thanks are also due to the steering group for their comments on the original proposal, practitioners around the UK for distributing information packs, Anne Jolly (SADS UK) and Stephanie Cruickshank (CMA UK) for their guidance, and in particular to Cassie Fraser-Jones (Cardiac Genetics Counselor) for her comments throughout, and to the interviewees who kindly agreed to participate.

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Authors and Affiliations

  1. School of Science, Society and Management, Bath Spa University, Newton Park Campus, Newton St Loe, Bath, BA2 9BN, UK

    Andrew Smart

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  1. Andrew Smart
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Correspondence to Andrew Smart.

Appendix: Interview Guide

Appendix: Interview Guide

  1. Theme A.

    Experiences of the Condition and Treatment

    • Personal and family history of the disorder

    • What has happened during medical care?

  2. Theme B.

    DNA Testing

    • Why offered the DNA test?

    • What were the results?

    • Key reasons for having the test?

    • Any difficulties in making the choice?

    • Effects of DNA test on how they think about the condition.

  3. Theme C.

    Family Communication

    • Were they the first person to have a DNA test? Who else has had a test?

    • Did they contact other family members about the test? Who and why?

    • Were there family members they didn’t contact? Who and why?

    • Difficulties in the process of communicating with relatives.

    • Amount of (and preferred) support/ advice/ information from the medical team.

  4. Theme D.

    Benefits and Drawbacks

    • The positive and negative outcomes of DNA testing for them and their family.

    • Has participation in DNA testing left any lingering concerns or outstanding problems?

  5. Theme E.

    Information Provision

    • What information was given about the implications of the results of a DNA test?

    • Was this given at appropriate times, and were there opportunities to discuss issues, concerns or problems?

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Smart, A. Impediments to DNA Testing and Cascade Screening for Hypertrophic Cardiomyopathy and Long QT syndrome: A Qualitative Study of Patient Experiences. J Genet Counsel 19, 630–639 (2010). https://doi.org/10.1007/s10897-010-9314-0

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  • DOI: https://doi.org/10.1007/s10897-010-9314-0

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