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Genomics in diagnosing primary ovarian insufficiency (POI): the door is open, but the path is still to be paved

Year: 2025
Type: article
Abstract: Summary of the November 2024 ESHRE Journal Club discussion. The November 2024 ESHRE Journal Club discussion focused on a study by Vogt et al. (2024) on key issues of primary ovarian insufficiency (POI) research and clinical diagnosis such as the integration of computational tools to predict pathogenicity in genetic variants of uncertain significance (VUS) related to POI, the limitations in current phenotype–genotype correlations for diagnosis, the need to prioritize future research to improve accessibility and equity in genetic testing for diverse populations, and the role of healthcare professionals in providing tailored genetic counselling and reproductive advice for patients with POI.
DOI: 10.1093/humrep/deaf084
Authors: Omar F Ammar, George Liperis, Kashish Sharma, Zoya E Ali, Patricia Diaz-Gimeno, Filippo Zambelli, Martine A Gould, Vikram Talaulikar, Juan J Fraire-Zamora
Institutions: Université de Bordeaux, University of Anbar, The University of Sydney, Larnaca College, Instituto de Investigación Sanitaria La Fe, IVIRMA Global, Fundación IVI, Cook Children's Medical Center, Cook Children's Health Care System, University College Hospital, University College London
Language: English
Subfield: Genetics
Open Access status: bronze
OpenAlex ID: W4409873675
FWCI:
Cites: 28
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Related to: 10