Study finds more barriers to genetic testing for Black children than white children

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MINNEAPOLIS — For children with signs of neurological conditions such as autism, epilepsy and global developmental delay, genetic testing can help make the diagnosis, identify possible treatments and determine whether family members could be affected, among other benefits. But a new study shows that white children were almost twice as likely as Black children to have completed genetic testing. The study is published on February 12, 2025, online in Neurology®, the medical journal of the American Academy of Neurology. The study also found that insurance coverage for genetic testing requested by pediatric neurologists was denied at higher rates for Black children.

“We were encouraged to see that pediatric neurologists’ requests for genetic tests were no different based on the patients’ racial or ethnic identity,” said study author Jordan Janae Cole, MD, of the University of Colorado Anschutz Medical Campus in Aurora and a member of the American Academy of Neurology. “However, the Black children had a lower rate of completing the genetic tests. While they were denied insurance coverage at a higher rate, that disparity did not account for all of the difference, indicating that other potential barriers and biases need to be addressed.”

For the study, researchers looked at health records for all patients seen at pediatric neurology outpatient clinics at Washington University School of Medicine in St. Louis during an 18-month period. They determined which participants had genetic tests requested and completed, and they examined insurance denial data. Researchers then looked at social factors that may impact a person’s health, such as race and ethnicity, type of insurance and the level of advantage or disadvantage in their neighborhood.

A total of 11,371 children were seen during that period, of which 78% were white, 15% were Black, 3% were Hispanic, 3% were listed as other, including Asian, Native American/Alaska Native and Pacific Islander, 1% were listed as “unknown” and 0.3% declined to answer. Due to the small number of children identified as Hispanic or other races and ethnicities, the researchers limited their analysis to only Black and white participants.

A total of 554 children completed at least one genetic test during the study. White children were nearly twice as likely to have a test completed, with 5.2% of white children having at least one test completed and 3.6% of Black children having at least one test completed. Cole noted that this occurred despite there being no differences in the rate of genetic test requests by neurologists.

White children were 66% less likely than Black children to have their request for a genetic test from an outpatient neurology clinic denied, with 23% of requests for Black children denied compared to 10% of requests for white children.

Children with public insurance were 41% less likely to complete their genetic testing after a request by an outpatient neurology clinic than those with private insurance.

“The ethnic and racial inequities could not be fully explained by differences in other social factors such as socioeconomic disadvantage or living in a rural or urban area or clinical factors such as what type of diagnosis they had,” Cole said. “We suspect these disparities are due to other unmeasured impacts of systemic racism that we were unable to measure in our study, such as wealth inequality, education inequality and implicit biases. Recognizing these inequities and barriers to genetic testing is essential for developing interventions to eliminate them. We must ensure that efforts to improve access to genetic testing keep equity at the forefront, so they don’t worsen health disparities.”

A limitation of the study was that it included participants from only one institution, so the results may not apply to the overall population.

Dr. Cole was a recipient of the 2023 AAN Health Care Equity Research Award.

The study was funded by the National Institute of Neurological Disorders and Stroke, the National Center for Advancing Translational Sciences of the National Institutes of Health, the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Institute of Arthritis and Musculoskeletal and Skin Diseases.

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The American Academy of Neurology is the leading voice in brain health. As the world’s largest association of neurologists and neuroscience professionals with more than 40,000 members, the AAN provides access to the latest news, science and research affecting neurology for patients, caregivers, physicians and professionals alike. The AAN’s mission is to enhance member career fulfillment and promote brain health for all. A neurologist is a doctor who specializes in the diagnosis, care and treatment of brain, spinal cord and nervous system diseases such as Alzheimer's disease, stroke, concussion, epilepsy, Parkinson's disease, multiple sclerosis, headache and migraine.

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