Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.

Freeman, L; Archibald, AD; Dive, L; Delatycki, MB; Kirk, EP; Laing, N; Newson, AJ

Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.

Freeman, L

Archibald, AD Dive, L

Delatycki, MB Kirk, EP Laing, N Newson, AJ

Permalink

Publisher:: SPRINGERNATURE
Publication Type:: Journal Article
Citation:: Eur J Hum Genet, 2024
Issue Date:: 2024-11-25

Open Access

Copyright Clearance Process

Recently Added
In Progress
Open Access

This item is open access.

Adobe PDF

Download Published versionAdobe PDF (454.33 kB)

View on publisher's site

View statistics

Full metadata record

Field	Value	Language
dc.contributor.author	Freeman, L https://orcid.org/0000-0002-5814-3894
dc.contributor.author	Archibald, AD
dc.contributor.author	Dive, L https://orcid.org/0000-0001-6655-5138
dc.contributor.author	Delatycki, MB
dc.contributor.author	Kirk, EP
dc.contributor.author	Laing, N
dc.contributor.author	Newson, AJ
dc.date.accessioned	2024-12-09T21:32:27Z
dc.date.available	2024-11-08
dc.date.available	2024-12-09T21:32:27Z
dc.date.issued	2024-11-25
dc.identifier.citation	Eur J Hum Genet, 2024
dc.identifier.issn	1018-4813
dc.identifier.issn	1476-5438
dc.identifier.uri	http://hdl.handle.net/10453/182424
dc.description.abstract	Reproductive genetic carrier screening (RGCS) provides information about people's chance of having children with certain genetic conditions, to inform reproductive decision making. RGCS at population scale requires a robust and streamlined program that is purposively designed and formally implemented to ensure equity and consistency. There are many considerations in selecting conditions, genes and variants for inclusion in RGCS, with severity of the genetic condition a key criterion. However, the concept of severity is complex and often underspecified in available guidelines. Severity is often determined in relation to other contextual features and can be experienced differently by individuals who all have the same condition. While some genetic conditions are unambiguously considered severe, there are many factors that contribute to how severe a condition is perceived to be (and by whom), and perspectives will vary. In this paper, we analyse why severity is an important criterion when selecting conditions, genes or variants to be included in RGCS. We suggest that screening programs should be oriented more towards variants and genes associated with severe conditions. We discuss the importance of taking a practical approach to gene selection in a carrier screening program when presenting the offer at population scale.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	SPRINGERNATURE
dc.relation.ispartof	Eur J Hum Genet
dc.relation.isbasedon	10.1038/s41431-024-01738-0
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	Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.
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	*
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	2024-12-09T21:32:26Z
pubs.publication-status	Published online

Abstract:

Reproductive genetic carrier screening (RGCS) provides information about people's chance of having children with certain genetic conditions, to inform reproductive decision making. RGCS at population scale requires a robust and streamlined program that is purposively designed and formally implemented to ensure equity and consistency. There are many considerations in selecting conditions, genes and variants for inclusion in RGCS, with severity of the genetic condition a key criterion. However, the concept of severity is complex and often underspecified in available guidelines. Severity is often determined in relation to other contextual features and can be experienced differently by individuals who all have the same condition. While some genetic conditions are unambiguously considered severe, there are many factors that contribute to how severe a condition is perceived to be (and by whom), and perspectives will vary. In this paper, we analyse why severity is an important criterion when selecting conditions, genes or variants to be included in RGCS. We suggest that screening programs should be oriented more towards variants and genes associated with severe conditions. We discuss the importance of taking a practical approach to gene selection in a carrier screening program when presenting the offer at population scale.

Please use this identifier to cite or link to this item:

http://hdl.handle.net/10453/182424