Beyond severity: Utility as a criterion for setting the scope of RGCS

Dive, L; Laberge, A-M; Freeman, L; Bunnik, E

Beyond severity: Utility as a criterion for setting the scope of RGCS

Dive, L

Laberge, A-M Freeman, L

Bunnik, E

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Publisher:: Springer Nature [academic journals on nature.com]
Publication Type:: Journal Article
Citation:: European Journal of Human Genetics, 2024
Issue Date:: 2024-05-29

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Field	Value	Language
dc.contributor.author	Dive, L https://orcid.org/0000-0001-6655-5138
dc.contributor.author	Laberge, A-M
dc.contributor.author	Freeman, L https://orcid.org/0000-0002-5814-3894
dc.contributor.author	Bunnik, E
dc.date.accessioned	2024-09-24T23:55:12Z
dc.date.available	2024-05-15
dc.date.available	2024-09-24T23:55:12Z
dc.date.issued	2024-05-29
dc.identifier.citation	European Journal of Human Genetics, 2024
dc.identifier.issn	1018-4813
dc.identifier.issn	1476-5438
dc.identifier.uri	http://hdl.handle.net/10453/180957
dc.description.abstract	Reproductive genetic carrier screening (RGCS) allows prospective parents to identify and act upon their chances of having a child with a genetic condition. In deciding which genetic conditions to include in RGCS, severity is often used as a criterion. However, the concept is inherently complex, subjective and multidimensional, and determinations of severity will remain intractably contested. We propose the concept of utility as a criterion for setting the scope of RGCS, and put forward two central arguments for doing so. First, utility is a more appropriate and effective concept as it responds to context and makes an explicit connection between the purpose of RGCS and the value of information obtained for that purpose: namely, to facilitate reproductive decision-making. Utility comprises both clinical and personal utility, and varies according to the availability and accessibility of reproductive options, including pre-implantation genetic testing, prenatal genetic diagnosis, and termination of pregnancy. Second, there are ethical reasons for preferring utility over severity. Utility is a property of the information gleaned from RGCS, while severity is a property of a genetic condition or of an instance of this condition in a person. While consideration of the severity of genetic conditions is not lost when focusing on utility, the need to rely on value judgements regarding the quality of life of people who live with genetic conditions is circumvented. Therefore, utility should replace severity as justification for the inclusion of genetic conditions in RGCS programmes.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	Springer Nature [academic journals on nature.com]
dc.relation.ispartof	European Journal of Human Genetics
dc.relation.isbasedon	10.1038/s41431-024-01640-9
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	0604 Genetics, 1103 Clinical Sciences
dc.subject.classification	Genetics & Heredity
dc.subject.classification	3105 Genetics
dc.subject.classification	3202 Clinical sciences
dc.title	Beyond severity: Utility as a criterion for setting the scope of RGCS
dc.type	Journal Article
utslib.location.activity	England
utslib.for	0604 Genetics
utslib.for	1103 Clinical Sciences
pubs.organisational-group	University of Technology Sydney
pubs.organisational-group	University of Technology Sydney/Faculty of Health
pubs.organisational-group	University of Technology Sydney/Faculty of Health/Graduate School of Health
pubs.organisational-group	University of Technology Sydney/Faculty of Health/Graduate School of Health/GSH.Genetic Counselling
utslib.copyright.status	open_access	*
pubs.consider-herdc	true
dc.rights.license	This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0). To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/
dc.date.updated	2024-09-24T23:55:10Z
pubs.publication-status	Published online

Abstract:

Reproductive genetic carrier screening (RGCS) allows prospective parents to identify and act upon their chances of having a child with a genetic condition. In deciding which genetic conditions to include in RGCS, severity is often used as a criterion. However, the concept is inherently complex, subjective and multidimensional, and determinations of severity will remain intractably contested. We propose the concept of utility as a criterion for setting the scope of RGCS, and put forward two central arguments for doing so. First, utility is a more appropriate and effective concept as it responds to context and makes an explicit connection between the purpose of RGCS and the value of information obtained for that purpose: namely, to facilitate reproductive decision-making. Utility comprises both clinical and personal utility, and varies according to the availability and accessibility of reproductive options, including pre-implantation genetic testing, prenatal genetic diagnosis, and termination of pregnancy. Second, there are ethical reasons for preferring utility over severity. Utility is a property of the information gleaned from RGCS, while severity is a property of a genetic condition or of an instance of this condition in a person. While consideration of the severity of genetic conditions is not lost when focusing on utility, the need to rely on value judgements regarding the quality of life of people who live with genetic conditions is circumvented. Therefore, utility should replace severity as justification for the inclusion of genetic conditions in RGCS programmes.

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http://hdl.handle.net/10453/180957