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What is the meaning of a ‘genomic result’ in the context of pregnancy?

What is the meaning of a ‘genomic result’ in the context of pregnancy?
What is the meaning of a ‘genomic result’ in the context of pregnancy?
Prenatal genetic testing and analysis in the past was usually only offered when a particular fetal phenotype was noted or suspected, meaning that filtering and interpretation of genetic variants identified could be anchored in attempts to explain an existing health concern. Advanced genomic testing is now increasingly used in “low-risk” pregnancies, producing information on genotype adrift of the phenotypic data that is necessary to give it meaning, thus increasing the difficulty in predicting whether and how particular genetic variants might affect future development and health. A challenge to healthcare scientists, clinicians, and parents therefore is deciding what qualities prenatal genotypic variation should have in order to be constructed as a ‘result.’ At the same time, such tests are often re requested in order to make binary decisions about whether to continue a pregnancy or not. As a range of professional organizations develop guidelines on the use of advanced genomic testing during pregnancy, we highlight the particular difficulties of discovering ambiguous findings such as variants with uncertain clinical significance, susceptibility loci for neurodevelopmental problems and susceptibility to adult-onset diseases. We aim to foster international discussions about how decisions around disclosure are made and how uncertainty is communicated.
1018-4813
Shkedi-rafid, Shiri
0f4001fe-e41a-4b33-9afc-67ef298b7172
Horton, Rachel Helen
5406ca3f-a260-4b81-ad32-17a1bd8aca16
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Shkedi-rafid, Shiri
0f4001fe-e41a-4b33-9afc-67ef298b7172
Horton, Rachel Helen
5406ca3f-a260-4b81-ad32-17a1bd8aca16
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5

Shkedi-rafid, Shiri, Horton, Rachel Helen and Lucassen, Anneke (2020) What is the meaning of a ‘genomic result’ in the context of pregnancy? European Journal of Human Genetics. (doi:10.1038/s41431-020-00722-8).

Record type: Article

Abstract

Prenatal genetic testing and analysis in the past was usually only offered when a particular fetal phenotype was noted or suspected, meaning that filtering and interpretation of genetic variants identified could be anchored in attempts to explain an existing health concern. Advanced genomic testing is now increasingly used in “low-risk” pregnancies, producing information on genotype adrift of the phenotypic data that is necessary to give it meaning, thus increasing the difficulty in predicting whether and how particular genetic variants might affect future development and health. A challenge to healthcare scientists, clinicians, and parents therefore is deciding what qualities prenatal genotypic variation should have in order to be constructed as a ‘result.’ At the same time, such tests are often re requested in order to make binary decisions about whether to continue a pregnancy or not. As a range of professional organizations develop guidelines on the use of advanced genomic testing during pregnancy, we highlight the particular difficulties of discovering ambiguous findings such as variants with uncertain clinical significance, susceptibility loci for neurodevelopmental problems and susceptibility to adult-onset diseases. We aim to foster international discussions about how decisions around disclosure are made and how uncertainty is communicated.

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More information

Accepted/In Press date: 11 August 2020
e-pub ahead of print date: 14 September 2020
Published date: 14 September 2020

Identifiers

Local EPrints ID: 444599
URI: http://eprints.soton.ac.uk/id/eprint/444599
ISSN: 1018-4813
PURE UUID: 96fa44c9-a73f-419e-bdaa-e0c42014f732
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 27 Oct 2020 19:52
Last modified: 26 Nov 2021 05:22

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Contributors

Author: Shiri Shkedi-rafid
Author: Rachel Helen Horton
Author: Anneke Lucassen ORCID iD

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