Studies have shown that Black children with serious illnesses are less likely than white children to obtain crucial genetic testing necessary to guide treatment decisions, but the reasons for this disparity have not been fully understood. A new study from Washington University School of Medicine in St. Louis focused on children with neurological conditions finds that only 50% of Black patients completed genetic testing within a year of doctors referring patients for such testing, compared with 75% of white patients. The results indicate the disparity is due to differences in the type of health insurance kids have and other barriers to accessing care.
The findings, published Feb. 12 in the journal Neurology, highlight the difficulties that patients — particularly Black patients — face in accessing genetic testing to receive accurate diagnoses, the researchers said. The results are already changing practice at WashU Medicine’s pediatric neurology clinic, where a genetic counselor has been embedded to help address some of the access challenges uncovered by the study.
“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 the director of the Division of Pediatric and Developmental Neurology at WashU Medicine. Gurnett is a pediatric neurologist who sees patients at St. Louis Children’s Hospital. “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 all children with epilepsy or unexplained global developmental delay/intellectual disability, as well as some children with other neurological conditions. Identifying the specific genetic alteration responsible for a child’s symptoms is critical for guiding care decisions, establishing eligibility for precision medicine therapies and clinical trials, and connecting patients and their families with communities of people living with the same condition. Because many genetic conditions are inherited, having precise information can also help parents understand the risks that any future children will inherit such conditions.
Obtaining a genetic test is not a quick or simple process. It can also be expensive, ranging from a few hundred dollars to more than $5,000, depending on the specific test ordered. The child’s doctor must first recognize that genetic testing is indicated and submit a request for approval to their health insurance company. Next, the health insurance company must review the request and provide authorization for the test. Caregivers then typically need to schedule one or more appointments to actually receive the testing.
Gurnett — along with co-senior author Joyce Balls-Berry, PhD, an associate professor of neurology, and first author Jordan Cole, MD, then a neurogenetics fellow at WashU Medicine — collaborated with WashU’s Center for the Study of Race, Ethnicity and Equity to design a study to investigate genetic testing disparities in pediatric neurology and identify ways to address them.