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Predictive genetic testing for Huntington's disease: exploring participant experiences of uncertainty and ambivalence between clinic appointments

Predictive genetic testing for Huntington's disease: exploring participant experiences of uncertainty and ambivalence between clinic appointments
Predictive genetic testing for Huntington's disease: exploring participant experiences of uncertainty and ambivalence between clinic appointments

Ambivalence and uncertainty are key themes throughout the psychology of healthcare literature. This is especially so for individuals at risk of Huntington's disease (HD) deliberating the decision to undergo genetic testing because there is currently no treatment that modifies disease progression. A better understanding of the experience of making a decision about genetic prediction will help practitioners support and guide individuals through this process. Our aim was to capture participants' experiences of uncertainty and ambivalence in between their genetic counseling appointments. We explored these issues through the experiences of nine participants who were referred for predictive HD testing at four regional genetics services in England and Wales. Data consisted of recordings of clinic consultations, diaries, and an in-depth interview conducted at the end of the testing process. Data were analyzed thematically. Four themes were identified representing four possible futures, each future dependent on the decision to undergo testing and the result of that test. Our results showed that participants, as well as attending more to a future that represents their current situation of not having undergone predictive testing, also attended more to a distant future where a positive predictive result is received and symptoms have started. Participants attended less to the two futures that were more immediate once testing was undertaken (a future where a positive result is received and symptoms have not started and a future where a negative result is received). The use of diaries gave us a unique insight into these participants' experiences of ambivalence and uncertainty, psychological distress, and the emotional burden experienced. These findings help inform discussions within the clinic appointment as well as encourage researchers to consider diary use as a method of exploring what happens for individuals outside of clinical encounters.

ambivalence, decision making, Huntington's disease, predictive genetic testing, uncertainty
1059-7700
Ballard, L.M.
48a7b1af-4d2b-4ec7-8927-84361a3c62a9
Doheny, S.
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Dimond, R.
d5da54df-dbd7-4422-952c-2eeff32f624d
Lucassen, A.M.
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Clarke, A.J.
30f3d3dd-3caa-4465-82e8-a8c4316dfaa1
Ballard, L.M.
48a7b1af-4d2b-4ec7-8927-84361a3c62a9
Doheny, S.
a7cab2c1-b348-41c5-85d3-322900282f64
Dimond, R.
d5da54df-dbd7-4422-952c-2eeff32f624d
Lucassen, A.M.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Clarke, A.J.
30f3d3dd-3caa-4465-82e8-a8c4316dfaa1

Ballard, L.M., Doheny, S., Dimond, R., Lucassen, A.M. and Clarke, A.J. (2024) Predictive genetic testing for Huntington's disease: exploring participant experiences of uncertainty and ambivalence between clinic appointments. Journal of Genetic Counseling. (doi:10.1002/jgc4.1911).

Record type: Article

Abstract

Ambivalence and uncertainty are key themes throughout the psychology of healthcare literature. This is especially so for individuals at risk of Huntington's disease (HD) deliberating the decision to undergo genetic testing because there is currently no treatment that modifies disease progression. A better understanding of the experience of making a decision about genetic prediction will help practitioners support and guide individuals through this process. Our aim was to capture participants' experiences of uncertainty and ambivalence in between their genetic counseling appointments. We explored these issues through the experiences of nine participants who were referred for predictive HD testing at four regional genetics services in England and Wales. Data consisted of recordings of clinic consultations, diaries, and an in-depth interview conducted at the end of the testing process. Data were analyzed thematically. Four themes were identified representing four possible futures, each future dependent on the decision to undergo testing and the result of that test. Our results showed that participants, as well as attending more to a future that represents their current situation of not having undergone predictive testing, also attended more to a distant future where a positive predictive result is received and symptoms have started. Participants attended less to the two futures that were more immediate once testing was undertaken (a future where a positive result is received and symptoms have not started and a future where a negative result is received). The use of diaries gave us a unique insight into these participants' experiences of ambivalence and uncertainty, psychological distress, and the emotional burden experienced. These findings help inform discussions within the clinic appointment as well as encourage researchers to consider diary use as a method of exploring what happens for individuals outside of clinical encounters.

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Journal of Genetic Counseling - 2024 - Ballard - Predictive genetic testing for Huntington s disease Exploring participant - Version of Record
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More information

Accepted/In Press date: 5 February 2024
e-pub ahead of print date: 13 May 2024
Keywords: ambivalence, decision making, Huntington's disease, predictive genetic testing, uncertainty

Identifiers

Local EPrints ID: 495929
URI: http://eprints.soton.ac.uk/id/eprint/495929
ISSN: 1059-7700
PURE UUID: bb523a25-cc40-4749-94ce-f88aeaa767df
ORCID for L.M. Ballard: ORCID iD orcid.org/0000-0003-1017-4322
ORCID for A.M. Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 27 Nov 2024 17:55
Last modified: 28 Nov 2024 02:46

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Contributors

Author: L.M. Ballard ORCID iD
Author: S. Doheny
Author: R. Dimond
Author: A.M. Lucassen ORCID iD
Author: A.J. Clarke

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