Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions.

Vears, DF; Boyle, J; Jacobs, C; McInerney-Leo, A; Newson, AJ; Education, Ethics and Social Issues Committee of the Human Genetics Society of Australasia,

Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions.

Vears, DF Boyle, J Jacobs, C

McInerney-Leo, A Newson, AJ Education, Ethics and Social Issues Committee of the Human Genetics Society of Australasia,

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Publisher:: Cambridge University Press (CUP)
Publication Type:: Journal Article
Citation:: Twin Res Hum Genet, 2023, 26, (2), pp. 188-194
Issue Date:: 2023-04

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Field	Value	Language
dc.contributor.author	Vears, DF
dc.contributor.author	Boyle, J
dc.contributor.author	Jacobs, C https://orcid.org/0000-0002-9557-9080
dc.contributor.author	McInerney-Leo, A
dc.contributor.author	Newson, AJ
dc.contributor.author	Education, Ethics and Social Issues Committee of the Human Genetics Society of Australasia,
dc.date.accessioned	2023-09-06T01:39:59Z
dc.date.available	2023-09-06T01:39:59Z
dc.date.issued	2023-04
dc.identifier.citation	Twin Res Hum Genet, 2023, 26, (2), pp. 188-194
dc.identifier.issn	1832-4274
dc.identifier.issn	1839-2628
dc.identifier.uri	http://hdl.handle.net/10453/171939
dc.description.abstract	This Position Statement provides guidelines to assist all health professionals who receive requests for carrier testing and laboratory staff conducting the tests.In this Statement, the term 'carrier testing' refers to genetic testing in an individual to determine whether they have inherited a pathogenic variant associated with an autosomal or X-linked recessive condition previously identified in a blood relative. Carrier testing recommendations: (1) Carrier testing should only be performed with the individual's knowledge and consent; (2) An individual considering (for themselves, or on behalf of another) whether to have a carrier test should be supported to make an informed decision; (3) The mode of inheritance, the individual's personal experience with the condition, and the healthcare setting in which the test is being performed should be considered when determining whether carrier testing should be offered by a genetic health professional. Regarding children and young people: Unless there is direct medical benefit in the immediate future, the default position should be to postpone carrier testing until the child or young person can be supported to make an informed decision. There may be some specific situations where it is appropriate to facilitate carrier testing in children and young people (see section in this article). In such cases, testing should only be offered with pre- and post-test genetic counseling in which genetic health professionals and parents/guardians should explore the rationale for testing and the interests of the child and the family.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	Cambridge University Press (CUP)
dc.relation.ispartof	Twin Res Hum Genet
dc.relation.isbasedon	10.1017/thg.2023.15
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	1103 Clinical Sciences, 1114 Paediatrics and Reproductive Medicine, 1702 Cognitive Sciences
dc.subject.classification	Genetics & Heredity
dc.subject.classification	3202 Clinical sciences
dc.subject.classification	3215 Reproductive medicine
dc.subject.mesh	Child
dc.subject.mesh	Humans
dc.subject.mesh	Adolescent
dc.subject.mesh	Heterozygote
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Genetic Counseling
dc.subject.mesh	Australasia
dc.subject.mesh	Humans
dc.subject.mesh	Genetic Counseling
dc.subject.mesh	Heterozygote
dc.subject.mesh	Adolescent
dc.subject.mesh	Child
dc.subject.mesh	Australasia
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Child
dc.subject.mesh	Humans
dc.subject.mesh	Adolescent
dc.subject.mesh	Heterozygote
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Genetic Counseling
dc.subject.mesh	Australasia
dc.title	Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions.
dc.type	Journal Article
utslib.citation.volume	26
utslib.location.activity	England
utslib.for	1103 Clinical Sciences
utslib.for	1114 Paediatrics and Reproductive Medicine
utslib.for	1702 Cognitive Sciences
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
utslib.copyright.status	open_access	*
dc.date.updated	2023-09-06T01:39:58Z
pubs.issue	2
pubs.publication-status	Published
pubs.volume	26
utslib.citation.issue	2

Abstract:

This Position Statement provides guidelines to assist all health professionals who receive requests for carrier testing and laboratory staff conducting the tests.In this Statement, the term 'carrier testing' refers to genetic testing in an individual to determine whether they have inherited a pathogenic variant associated with an autosomal or X-linked recessive condition previously identified in a blood relative. Carrier testing recommendations: (1) Carrier testing should only be performed with the individual's knowledge and consent; (2) An individual considering (for themselves, or on behalf of another) whether to have a carrier test should be supported to make an informed decision; (3) The mode of inheritance, the individual's personal experience with the condition, and the healthcare setting in which the test is being performed should be considered when determining whether carrier testing should be offered by a genetic health professional. Regarding children and young people: Unless there is direct medical benefit in the immediate future, the default position should be to postpone carrier testing until the child or young person can be supported to make an informed decision. There may be some specific situations where it is appropriate to facilitate carrier testing in children and young people (see section in this article). In such cases, testing should only be offered with pre- and post-test genetic counseling in which genetic health professionals and parents/guardians should explore the rationale for testing and the interests of the child and the family.

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http://hdl.handle.net/10453/171939