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

2025/04/28 by Omar F Ammar, George Liperis, Kashish Sharma +6 · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #BRCA gene mutations in cancer #Genetic factors in colorectal cancer #Reproductive Biology and Fertility

paper · pdf · doi:10.1093/humrep/deaf084

openalex publication_date 2025/04/28 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/22

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.

Discussions

• Our new #ESHREjc piece on genomics in POI diagnosis: •VUS & their clinical challenges •AI tools for pathogenicity prediction •Missing genotype–phenotype links •Equity in genetic testing access •Perso [bsky, 4 points, 1 comments]

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