Not Enough Black Children Receive Neurology Genetic Testing

A recent study published in Neurology highlights significant ethnoracial disparities in the completion of genetic testing for pediatric neurology patients. The research underscores the influence of social determinants of health (SDOH) on access to and utilization of these crucial diagnostic tools, particularly for Black children.

The retrospective observational study, conducted by Jordan Janae Cole, M.D., and colleagues at the University of Colorado in Aurora, analyzed electronic health record data from 11,371 pediatric neurology outpatients. The study aimed to determine if SDOH factors were associated with genetic testing completion rates, specifically comparing non-Hispanic single-racial or multiracial Black patients with non-Hispanic single-racial White patients.

Of the total patient population, only 4.9 percent completed one or more genetic tests during the study period. This low overall completion rate itself raises concerns about access to genetic testing for all children, regardless of race. However, the disparity between Black and White patients was stark. The study found that White patients were significantly more likely to have completed genetic testing compared to Black patients, with an adjusted odds ratio of 1.88. This means that White children were nearly twice as likely to receive the genetic testing they needed compared to Black children with similar neurological conditions.

The most common medical specialty through which genetic testing was completed was outpatient pediatric neurology, emphasizing the critical role neurologists play in this process. Interestingly, the study found no significant difference in the rates at which neurology providers requested genetic testing for Black and White patients. This suggests that the disparity in completion rates isn’t due to doctors being less likely to recommend testing for Black children. Instead, the bottleneck appears to occur after the request is made.

One key factor contributing to this disparity was insurance. White patients experienced lower insurance denial rates after a neurology request compared to Black patients, with a relative rate ratio of 0.44. This indicates that insurance companies were more likely to deny genetic testing requests for Black children than for White children. This disparity in insurance approvals presents a major barrier to access, as families may be unable to afford the out-of-pocket costs associated with denied tests.

Furthermore, the study revealed that patients with public insurance were less likely to complete genetic testing after it was requested through neurology, compared to those with private insurance (adjusted odds ratio, 0.59). This highlights the significant impact of insurance type on access to genetic testing. When considering specific types of genetic tests, insurance type was significantly associated with multipanel gene completion, with public insurance holders less likely to complete this more comprehensive type of testing (odds ratio, 0.56).

The Impact on Black Patients:

These findings have profound implications for Black children with neurological conditions. Delayed or missed diagnoses due to lack of genetic testing can lead to:

• Delayed or Inappropriate Treatment: Without a precise genetic diagnosis, Black children may not receive the most effective and targeted treatments for their conditions. This can lead to worsening symptoms, disease progression, and poorer long-term outcomes.
• Exacerbated Health Disparities: The existing health disparities faced by the Black community are further compounded by unequal access to advanced diagnostic technologies like genetic testing. This can contribute to a cycle of disadvantage, where disparities in healthcare access lead to poorer health outcomes.
• Emotional and Financial Burden: The diagnostic odyssey for families of children with neurological conditions can be lengthy and stressful. Denied genetic testing requests add further emotional and financial strain, particularly for Black families who may already face systemic barriers to healthcare access.
• Limited Participation in Research: Underrepresentation of Black children in genetic studies can limit our understanding of the genetic basis of neurological conditions in diverse populations. This can hinder the development of targeted therapies and interventions that benefit all children.

Addressing the Disparities:

The study authors emphasize the urgent need to address these ethnoracial inequities in genetic testing. They highlight the importance of recognizing the role of SDOH in creating these barriers. The authors suggest interventions such as:

• Improving Insurance Coverage: Advocating for policies that ensure equitable insurance coverage for genetic testing, regardless of race or insurance type, is crucial. This includes addressing disparities in prior authorization processes and coverage denials.
• Increasing Availability of Point-of-Care Genetic Testing: Expanding access to point-of-care genetic testing, particularly in underserved communities, can help reduce delays and improve access for Black children.
• Addressing Systemic Racism and Bias: Implicit bias within the healthcare system can also contribute to disparities in genetic testing. Efforts to address systemic racism and promote cultural competency among healthcare providers are essential.
• Community Outreach and Education: Raising awareness within the Black community about the importance of genetic testing and available resources can empower families to advocate for their children’s healthcare needs.

By acknowledging and addressing these disparities, we can work towards a more equitable healthcare system where all children, regardless of race, have access to the diagnostic tools they need to achieve their full health potential.