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
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.
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).
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.
Text
Journal of Genetic Counseling - 2024 - Ballard - Predictive genetic testing for Huntington s disease Exploring participant
- Version of Record
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
Catalogue record
Date deposited: 27 Nov 2024 17:55
Last modified: 28 Nov 2024 02:46
Export record
Altmetrics
Contributors
Author:
S. Doheny
Author:
R. Dimond
Author:
A.J. Clarke
Download statistics
Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.
Loading...
View more statistics