A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings

Abstract Exome-based testing for genetic diseases can reveal unsolicited findings (UFs), i.e. predispositions for diseases that exceed the diagnostic question. Knowledge of patients’ interpretation of possible UFs and of motives for (not) wanting to know UFs is still limited. This lacking knowledge...

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Autores principales:	Marlies Saelaert, Heidi Mertes, Tania Moerenhout, Caroline Van Cauwenbergh, Bart P. Leroy, Ignaas Devisch, Elfride De Baere
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/df0c4a58ed1b452c969499339eef5732
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spelling	oai:doaj.org-article:df0c4a58ed1b452c969499339eef57322021-12-02T16:35:18ZA qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings10.1038/s41598-021-95258-22045-2322https://doaj.org/article/df0c4a58ed1b452c969499339eef57322021-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-95258-2https://doaj.org/toc/2045-2322Abstract Exome-based testing for genetic diseases can reveal unsolicited findings (UFs), i.e. predispositions for diseases that exceed the diagnostic question. Knowledge of patients’ interpretation of possible UFs and of motives for (not) wanting to know UFs is still limited. This lacking knowledge may impede effective counselling that meets patients’ needs. Therefore, this article examines the meaning of UFs from a patient perspective. A qualitative study was conducted and an interpretative phenomenological analysis was made of 14 interviews with patients with an inherited retinal disease. Patients assign a complex meaning to UFs, including three main components. The first component focuses on result-specific qualities, i.e. the characteristics of an UF (inclusive of actionability, penetrance, severity and age of onset) and the consequences of disclosure; the second component applies to a patient’s lived illness experiences and to the way these contrast with reflections on presymptomatic UFs; the third component addresses a patient’s family embedding and its effect on concerns about disease prognosis and genetic information’s family relevance. The complex meaning structure of UFs suggests the need for counselling procedures that transcend a strictly clinical approach. Counselling should be personalised and consider patients’ lived illness experiences and family context.Marlies SaelaertHeidi MertesTania MoerenhoutCaroline Van CauwenberghBart P. LeroyIgnaas DevischElfride De BaereNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Marlies Saelaert Heidi Mertes Tania Moerenhout Caroline Van Cauwenbergh Bart P. Leroy Ignaas Devisch Elfride De Baere A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
description	Abstract Exome-based testing for genetic diseases can reveal unsolicited findings (UFs), i.e. predispositions for diseases that exceed the diagnostic question. Knowledge of patients’ interpretation of possible UFs and of motives for (not) wanting to know UFs is still limited. This lacking knowledge may impede effective counselling that meets patients’ needs. Therefore, this article examines the meaning of UFs from a patient perspective. A qualitative study was conducted and an interpretative phenomenological analysis was made of 14 interviews with patients with an inherited retinal disease. Patients assign a complex meaning to UFs, including three main components. The first component focuses on result-specific qualities, i.e. the characteristics of an UF (inclusive of actionability, penetrance, severity and age of onset) and the consequences of disclosure; the second component applies to a patient’s lived illness experiences and to the way these contrast with reflections on presymptomatic UFs; the third component addresses a patient’s family embedding and its effect on concerns about disease prognosis and genetic information’s family relevance. The complex meaning structure of UFs suggests the need for counselling procedures that transcend a strictly clinical approach. Counselling should be personalised and consider patients’ lived illness experiences and family context.
format	article
author	Marlies Saelaert Heidi Mertes Tania Moerenhout Caroline Van Cauwenbergh Bart P. Leroy Ignaas Devisch Elfride De Baere
author_facet	Marlies Saelaert Heidi Mertes Tania Moerenhout Caroline Van Cauwenbergh Bart P. Leroy Ignaas Devisch Elfride De Baere
author_sort	Marlies Saelaert
title	A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
title_short	A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
title_full	A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
title_fullStr	A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
title_full_unstemmed	A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
title_sort	qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/df0c4a58ed1b452c969499339eef5732
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A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings

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