Genetic Testing Rate Lower for Blacks With Inherited Retinal Diseases

FRIDAY, Nov. 8, 2024 (HealthDay News) — The genetic testing rate is lower for Black than non-Hispanic White patients with inherited retinal diseases (IRDs), according to a study published online Nov. 7 in JAMA Ophthalmology.

Rebhi O. Abuzaitoun, M.D., from the University of Michigan Medical School in Ann Arbor, and colleagues examined the genetic detection rates of wide-panel testing in Black and non-Hispanic White patients with IRDs using retrospective patient data collected at the University of Michigan (UM) and Blueprint Genetics (BG).

A total of 572 patients were included in UM (9.4 percent Black; 90.6 percent White), while the BG database included 320 Black patients and 2,931 White patients. The researchers found that at UM, there were independent associations for Black race (odds ratio, 0.25) and age (odds ratio per 10 years, 0.84) with reduced odds of a positive test. In the BG database, 44.4 and 57.7 percent of Black and White patients, respectively, had a positive/likely positive result.

“Given that patients with no known genetic diagnosis have fewer options for receiving novel treatments, the equity of genetic testing directly impacts the equity of IRD clinical trials,” the authors write. “As future treatments become available, we must critically examine the genetic detection rates across majority and minority subgroups alike.”

Authors disclosed ties to Blueprint Genetics and ExamOne (owned by Quest Diagnostics).

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