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Genomic testing in premature ovarian insufficiency: proceed with caution.

Authors :
Tucker EJ
Tan TY
Stark Z
Sinclair AH
Source :
Biology of reproduction [Biol Reprod] 2022 Nov 14; Vol. 107 (5), pp. 1155-1158.
Publication Year :
2022

Abstract

Genomic testing has the potential to transform outcomes for women with infertility conditions, such as premature ovarian insufficiency (POI), with growing calls for widespread diagnostic use. The current research literature, however, often uses poor variant curation leading to inflated diagnostic claims and fails to address the complexities of genomic testing for this condition. Without careful execution of the transition from research to the clinic, there is danger of inaccurate diagnoses and poor appreciation of broader implications of testing. This Forum outlines the benefits of genomic testing for POI and raises often overlooked concerns.<br /> (© The Author(s) 2022. Published by Oxford University Press on behalf of Society for the Study of Reproduction. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Details

Language :
English
ISSN :
1529-7268
Volume :
107
Issue :
5
Database :
MEDLINE
Journal :
Biology of reproduction
Publication Type :
Academic Journal
Accession number :
35908231
Full Text :
https://doi.org/10.1093/biolre/ioac153