Real-World Engagement with Free Genotyping by Patients with Inherited Retinal Disease in a Single Private Retinal Centre in Australia
Overall low response, DNA return and acceptance of family testing rates suggest ill-defined human factors affected DNA genetic testing uptake. Improved patient education and follow-up of offers of genetic testing are required to improve patient genotyping.
Authors
- Sena A. Gocuk (ORCID: https://orcid.org/0000-0002-0618-343X)
- Alexis Ceecee Britten‐Jones (ORCID: https://orcid.org/0000-0002-1101-2870)
- Lewis E. Fry (ORCID: https://orcid.org/0000-0002-0821-3954)
- Heather G. Mack (ORCID: https://orcid.org/0000-0001-9756-1098)
- Lauren N. Ayton (ORCID: https://orcid.org/0000-0001-9907-084X)
Institutions
- The University of Melbourne (AU)
- The Royal Victorian Eye & Ear Hospital (AU)
Publication Details
- Journal
- Seminars in Ophthalmology
- Published
- 2025-06-30
- DOI
- https://doi.org/10.1080/08820538.2025.2524057
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- University of Melbourne
- National Health and Medical Research Council