Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases
Results from this study highlight a lower genetic detection rate for Black patients than for White patients with IRDs. This supports a concern that the current development of IRD therapeutics is highly dependent on the ability to identify the genetic cause of disease. Patients with no known genetic diagnosis may be disadvantaged in terms of prognostication, inheritance counseling, reproductive decision-making, and eligibility for potential therapeutic options, including clinical trials. As future treatments become available, these findings suggest the need to examine the genetic detection rates across majority and minority subgroups alike.
Authors
- John R. Heckenlively
- Rebhi Abuzaitoun (ORCID: https://orcid.org/0000-0002-7872-1444)
- Gabrielle D. Lacy (ORCID: https://orcid.org/0000-0002-3746-9326)
- Thiran Jayasundera (ORCID: https://orcid.org/0000-0003-4895-4818)
- Dana Schlegel
- Chris Andrews (ORCID: https://orcid.org/0000-0001-5130-6374)
- Juha Koskenvuo (ORCID: https://orcid.org/0000-0002-2306-2883)
- Todd A. Durham (ORCID: https://orcid.org/0000-0002-0363-0329)
- Sari Tuupanen
- Abigail T. Fahim (ORCID: https://orcid.org/0000-0001-9737-054X)
- Peter Y. Zhao (ORCID: https://orcid.org/0000-0003-1430-1034)
- David C. Musch (ORCID: https://orcid.org/0000-0002-4164-3841)
- Meenakshi Kumar (ORCID: https://orcid.org/0000-0002-2681-6521)
- Kari Branham (ORCID: https://orcid.org/0000-0002-2492-254X)
- Maria Fernanda Abalem (ORCID: https://orcid.org/0000-0002-4194-9314)
- Robert B. Hufnagel (ORCID: https://orcid.org/0000-0003-3015-3545)
- Naheed W. Khan (ORCID: https://orcid.org/0000-0003-4903-2065)
Institutions
- National Institutes of Health (US)
- Universidade de São Paulo (BR)
- University of Michigan (US)
- Foundation Fighting Blindness (US)
- Blueprint Genetics (Finland) (FI)
- National Eye Institute (US)
Publication Details
- Journal
- JAMA Ophthalmology
- Published
- 2024-11-07
- DOI
- https://doi.org/10.1001/jamaophthalmol.2024.4696
- Citations
- 8
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.87