Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?

Taylor, S; Rodrigues, M; Poke, G; Wake, S; McEwen, A

Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?

Taylor, S Rodrigues, M Poke, G Wake, S McEwen, A

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Publisher:: Wiley
Publication Type:: Journal Article
Citation:: Journal of genetic counseling, 2019, 28, (5), pp. 1029-1041
Issue Date:: 2019-10

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Field	Value	Language
dc.contributor.author	Taylor, S
dc.contributor.author	Rodrigues, M
dc.contributor.author	Poke, G
dc.contributor.author	Wake, S
dc.contributor.author	McEwen, A https://orcid.org/0000-0001-8705-1190
dc.date.accessioned	2020-05-19T00:56:30Z
dc.date.available	2020-10-01T19:05:53Z
dc.date.issued	2019-10
dc.identifier.citation	Journal of genetic counseling, 2019, 28, (5), pp. 1029-1041
dc.identifier.issn	1059-7700
dc.identifier.issn	1573-3599
dc.identifier.uri	http://hdl.handle.net/10453/140804
dc.description.abstract	Family communication about genetic information enables informed medical and reproductive decision-making. The literature suggests that a significant proportion of genetically at-risk family members remain uninformed about genetic risk information as a result of non-disclosure. This study explored the experiences of New Zealand families communicating about a diagnosis of type 1 myotonic dystrophy (DM1). Eligible individuals were identified and recruited from the New Zealand (NZ) MD Prev study, a nationwide study which aimed to determine the prevalence, impact, and costs of genetic muscle disorders across the lifespan. Twelve qualitative semi-structured interviews were conducted with 17 participants. The findings demonstrate diversity among and within families, with several distinct family narratives described. Most participants reported a motivation to tell relatives about their diagnosis to promote autonomy. Women were pivotal throughout communication processes and this was often tied to the concept of maternal responsibility and a desire to promote relatives' reproductive autonomy. The diagnosis of DM1 and the subsequent family communication decisions altered relationships for many, with both positive and negative impacts described. The findings demonstrate that individuals require time to explore the impact of a diagnosis of DM1 on self, family and intimate partner relationships to anticipate unique communication challenges. Genetic counselors can use these findings to inform their approach to counseling families with DM1. Longitudinal genetic counseling may be beneficial as a way to provide individuals with life stage specific support as they communicate with their relatives about a diagnosis of DM1.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	Wiley
dc.relation.ispartof	Journal of genetic counseling
dc.relation.isbasedon	10.1002/jgc4.1156
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	1103 Clinical Sciences
dc.subject.classification	Genetics & Heredity
dc.title	Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?
dc.type	Journal Article
utslib.citation.volume	28
utslib.location.activity	United States
utslib.for	1103 Clinical Sciences
utslib.for	1103 Clinical Sciences
pubs.organisational-group	/University of Technology Sydney/Graduate School of Health
pubs.organisational-group	/University of Technology Sydney
utslib.copyright.status	open_access	*
dc.date.updated	2020-05-19T00:55:59Z
pubs.issue	5
pubs.publication-status	Published
pubs.volume	28
utslib.start-page	1029
utslib.citation.issue	5

Abstract:

Family communication about genetic information enables informed medical and reproductive decision-making. The literature suggests that a significant proportion of genetically at-risk family members remain uninformed about genetic risk information as a result of non-disclosure. This study explored the experiences of New Zealand families communicating about a diagnosis of type 1 myotonic dystrophy (DM1). Eligible individuals were identified and recruited from the New Zealand (NZ) MD Prev study, a nationwide study which aimed to determine the prevalence, impact, and costs of genetic muscle disorders across the lifespan. Twelve qualitative semi-structured interviews were conducted with 17 participants. The findings demonstrate diversity among and within families, with several distinct family narratives described. Most participants reported a motivation to tell relatives about their diagnosis to promote autonomy. Women were pivotal throughout communication processes and this was often tied to the concept of maternal responsibility and a desire to promote relatives' reproductive autonomy. The diagnosis of DM1 and the subsequent family communication decisions altered relationships for many, with both positive and negative impacts described. The findings demonstrate that individuals require time to explore the impact of a diagnosis of DM1 on self, family and intimate partner relationships to anticipate unique communication challenges. Genetic counselors can use these findings to inform their approach to counseling families with DM1. Longitudinal genetic counseling may be beneficial as a way to provide individuals with life stage specific support as they communicate with their relatives about a diagnosis of DM1.

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http://hdl.handle.net/10453/140804