Study highlights racial disparities in genetic testing for inherited retinal diseases
A recent study underscores significant racial disparities in the effectiveness of wide-panel genetic testing for inherited retinal diseases (IRDs), with Black patients exhibiting lower genetic detection rates compared to non-Hispanic White patients.
Researchers analyzed data from the University of Michigan (UM) and Blueprint Genetics (BG). At UM, the study included 572 patients diagnosed with IRDs who underwent genetic testing, self-identifying as Black or non-Hispanic White. Logistic regression was used to assess factors influencing genetic test outcomes, including race, age, sex, phenotype, and number of genes tested. The BG database provided additional data for comparative analysis.
Key Findings:
- At UM, Black patients were significantly less likely to have a positive genetic test result compared to White patients (odds ratio [OR], 0.25; 95% CI, 0.14-0.46; P < 0.001).
- Age was also associated with reduced odds of positive results (OR per 10 years, 0.84; 95% CI, 0.76-0.92; P < 0.001).
- Data from BG showed that 44.4% of Black patients had positive results, compared to 57.7% of White patients (χ2 = 18.65; df = 1; P < 0.001).
The study authors emphasized that there is an urgent need to address inequities in genetic testing, as Black patients with IRDs face potential disadvantages in prognosis, inheritance counseling, and eligibility for clinical trials.
Reference
Abuzaitoun RO, Branham KH, Lacy GD, et al. Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases. JAMA Ophthalmol. 2024;e244696. doi: 10.1001/jamaophthalmol.2024.4696. Epub ahead of print. PMID: 39509105; PMCID: PMC11544549.
