Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases

Area of Science:

• Ophthalmology
• Genetics
• Medical Diagnostics

Background:

• Wide-panel genetic testing is crucial for diagnosing inherited retinal diseases (IRDs).
• Previous studies have not examined racial disparities in genetic detection rates for IRDs.

Purpose of the Study:

• To compare genetic detection rates between Black and non-Hispanic White patients with IRDs using wide-panel testing.
• To identify potential disparities in genetic diagnosis based on race.

Main Methods:

• Retrospective analysis of patient data from the University of Michigan and Blueprint Genetics.
• Inclusion criteria: clinical IRD diagnosis, wide-panel genetic testing, and self-identified race.
• Logistic regression and chi-squared tests were used to compare detection rates between racial groups.

Main Results:

• Black patients had significantly lower odds of a positive genetic test result compared to White patients (OR, 0.25; P < .001).
• In the Blueprint Genetics database, 44.4% of Black patients had a positive test result, versus 57.7% of White patients (P < .001).
• Age was also associated with decreased odds of a positive test.

Conclusions:

• This study highlights a lower genetic detection rate in Black patients with IRDs, suggesting potential inequities.
• Disparities in genetic diagnosis can affect patient care, including prognostication, genetic counseling, and eligibility for clinical trials.
• Further research is needed to examine genetic detection rates across diverse racial and ethnic subgroups to ensure equitable access to IRD diagnostics and therapeutics.