Optimizing gene panels for equitable reproductive carrier screening: The Goldilocks approach
Our methodology optimizes the gene content of carrier screening panels for diverse ancestry groups, provides a mechanism for continually updating guidelines, ensures consistency with genomic population data, and improves equity across populations.
Authors
- Swaroop Aradhya (ORCID: https://orcid.org/0000-0001-6219-2931)
- Rachel E. Ellsworth (ORCID: https://orcid.org/0000-0003-2287-1635)
- Sarah Poll (ORCID: https://orcid.org/0000-0001-7324-9825)
- Nola Olsen
- Leslie Burnett (ORCID: https://orcid.org/0000-0001-7282-9596)
- Nicole Faulkner (ORCID: https://orcid.org/0000-0002-2989-113X)
- Matthew Hobbs (ORCID: https://orcid.org/0000-0002-6879-1369)
- Jaysen Knezovich
- Mia J Gruzin
- Sienna Aguilar
Institutions
- Garvan Institute of Medical Research (AU)
- New South Wales Department of Primary Industries (AU)
- UNSW Sydney (AU)
- St Vincent's Clinic (AU)
- Stanford Medicine (US)
- Services Australia (AU)
- Invitae (United States) (US)
- Stanford University (US)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2025-03-11
- DOI
- https://doi.org/10.1016/j.gim.2025.101387
- Citations
- 3
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 10.48