Genomics in diagnosing primary ovarian insufficiency (POI): the door is open, but the path is still to be paved
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.
Authors
- Juan J Fraire-Zamora (ORCID: https://orcid.org/0000-0003-2870-0140)
- Kashish Sharma (ORCID: https://orcid.org/0000-0003-1849-6270)
- Patricia Díaz-Gimeno (ORCID: https://orcid.org/0000-0003-0031-7545)
- Omar Farhan Ammar (ORCID: https://orcid.org/0000-0001-8048-9747)
- George Liperis (ORCID: https://orcid.org/0000-0001-9588-3392)
- Filippo Zambelli (ORCID: https://orcid.org/0000-0001-7275-2947)
- Vikram Sinai Talaulikar (ORCID: https://orcid.org/0000-0002-2058-722X)
- Zoya Enakshi Ali (ORCID: https://orcid.org/0000-0002-2659-0585)
- M.N. Gould (ORCID: https://orcid.org/0009-0006-8769-1853)
Institutions
- University College Hospital (GB)
- The University of Sydney (AU)
- University of Anbar (IQ)
- Health Net (US)
- Cook Children's Health Care System (US)
- Institute of Reproductive Medicine (IN)
- Westmead Institute (AU)
- Instituto de Investigación Sanitaria La Fe (ES)
- 21c Consultancy (United Kingdom) (GB)
- University College London (GB)
Publication Details
- Journal
- Human Reproduction
- Published
- 2025-04-28
- DOI
- https://doi.org/10.1093/humrep/deaf084
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Society of Human Reproduction and Embryology