Does Race Affect Detection of Inherited Retinal Disease?

TOPLINE:

Black patients with inherited retinal diseases who undergo genetic testing are less likely than White patients to receive a conclusive genetic diagnosis, new research shows. At one center, about 39% of Black patients were found to have pathogenic or likely pathogenic genetic variants, compared with 71% of White patients.

METHODOLOGY:

• Researchers analyzed data from 572 people with inherited retinal diseases at the University of Michigan Kellogg Eye Center, Ann Arbor, Michigan, including 54 Black and 518 White patients.
• Patients had a clinical diagnosis of an inherited retinal disease, wide-panel genetic testing, and self-identified as Black or non-Hispanic White individuals.

TAKEAWAY:

• In a multivariable model, Black patients had significantly lower odds of obtaining a positive result with genetic testing (odds ratio, 0.25; 95% CI, 0.14-0.46; P
• Older age also was independently associated with decreased odds of a positive genetic test result.
• A separate analysis of data from 3251 patients in a Blueprint Genetics database again showed a lower rate of definitive test results for Black patients than for White patients (44.4% vs 57.7%).

IN PRACTICE:

“The current development of [inherited retinal disease] therapeutics is highly dependent on the ability to identify disease-causing mutations,” the authors of the study wrote. “As future treatments become available, we must critically examine the genetic detection rates across majority and minority subgroups alike.”

SOURCE:

K. Thiran Jayasundera, MD, with the University of Michigan Kellogg Eye Center, was the corresponding author for the study, which was published online on November 7 in JAMA Ophthalmology.

LIMITATIONS:

The study included only participants who self-identified as Black or White and reported that both parents were the same race. The sample size was not adequate to include other racial groups, “although it is important to investigate other races as well,” the researchers wrote.

DISCLOSURES:

The study was supported by grants from the National Institutes of Health. Some of the authors were employees of Blueprint Genetics or Quest Diagnostics.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.