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Study highlights barriers to genetic testing for Black children

Black Politics Now by Black Politics Now
February 27, 2025
in Health
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Image Source: Getty Images

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Feb 27, 2025 Story by: Editor

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Research has shown that Black children suffering from serious illnesses are less likely than white children to undergo essential genetic testing, which is crucial for guiding treatment decisions. However, the underlying reasons for this disparity have remained unclear.

A new study from the Washington University School of Medicine in St. Louis focusing on children with neurological conditions found that only 50% of Black patients completed genetic testing within a year of being referred by doctors, compared to 75% of white patients. The findings suggest that disparities are linked to differences in health insurance coverage and other obstacles in accessing care.

Published on Feb. 12 in the journal Neurology, the study sheds light on the challenges Black patients face in obtaining genetic testing, which is essential for accurate diagnoses and effective treatments. Researchers at WashU Medicine’s pediatric neurology clinic have already taken steps to address these challenges by embedding a genetic counselor to help patients navigate the testing process.

“For children with neurological conditions, genetic testing is essential to obtaining a diagnosis and guiding treatment decisions. If a physician refers a patient for genetic testing, and the patient is unable to get such testing, that really limits the care that physician can provide,” said co-senior author Christina Gurnett, MD, PhD, the A. Ernest and Jane G. Stein Professor of Developmental Neurology and director of the Division of Pediatric and Developmental Neurology at WashU Medicine.

Gurnett, who also treats patients at St. Louis Children’s Hospital, emphasized, “Having genetic information about a patient’s illness determines which medicine we choose. It determines how we monitor for associated conditions, and what we tell families about what they can expect for their child. Disparities in accessing testing translate into inequities in health.”

Genetic testing is recommended for children with epilepsy, unexplained global developmental delay, intellectual disability, and certain other neurological conditions. Identifying the genetic cause of a child’s symptoms helps guide treatment, determines eligibility for precision medicine therapies and clinical trials, and connects families with support networks of others affected by the same condition. Because many of these disorders are inherited, genetic testing also provides valuable insights for parents about potential risks for future children.

The process of obtaining a genetic test is complex and costly. Prices can range from a few hundred dollars to over $5,000, depending on the specific test. Before testing, a physician must first determine that it is necessary and submit a request for insurance approval. The insurance company then reviews the request and decides whether to authorize coverage. Once approved, caregivers must schedule one or more appointments to complete the testing, adding further logistical challenges for families.

To investigate these disparities, Gurnett collaborated with co-senior author Joyce Balls-Berry, PhD, an associate professor of neurology, and first author Jordan Cole, MD, a former neurogenetics fellow at WashU Medicine. The team worked with WashU’s Center for the Study of Race, Ethnicity and Equity to analyze racial disparities in genetic testing access within pediatric neurology and explore solutions to bridge the gap.

Source: Washington University in St.Louis

Tags: Barriers to genetic testing Black childrenBlack children genetic diagnosis gapGenetic testing disparities Black kidsHealthcare equity in genetic screeningImproving genetic healthcare for Black childrenStudy on Black pediatric genetic care
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