Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases

IMPORTANCE: The association of race and detection of pathogenic variants using wide-panel genetic testing for inherited retinal diseases (IRD), to our knowledge, has not been studied previously. OBJECTIVE: To investigate the genetic detection rates of wide-panel testing in Black and non-Hispanic White patients with IRDs. DESIGN, SETTING, PARTICIPANTS: This 2-group comparison used retrospective patient data that were collected at the University of Michigan (UM) and Blueprint Genetics (BG). At UM, inclusion criteria included having a clinical IRD diagnosis, wide-panel genetic testing, and both parents and the patient self-identifying as the same race (Black or non-Hispanic White). Logistic regression analysis was used; the dependent variable was genetic test result (positive or negative/inconclusive) and the independent variables were race, age, sex, phenotype, and number of genes tested. In the BG database, patients with wide-panel testing and self-reported race were included; detection rate comparison analysis based on race was performed using χ2 test of independence. These data were analyzed from October 30, 2013, through October 26, 2022. MAIN OUTCOME AND MEASURE: Genetic test result was considered positive if pathogenic/likely pathogenic variants were detected. RESULTS: A total of 572 patients were included in UM, 295 were males (51.6%). Mean age was 45 years. There were 54 Black patients (9.4%) and 518 White patients (90.6%). Black race (odds ratio [OR], 0.25; 95% CI, 0.14-0.46; P