Newborn Screening for Neurodevelopmental Disorders May Exacerbate Health Disparities

Area of Science:

• Genetics
• Public Health
• Pediatrics

Background:

• Newborn screening (NBS) has evolved from single-condition testing to comprehensive panels using tandem mass spectrometry.
• The Recommended Uniform Screening Panel promotes national consistency and equity in NBS.
• Recent proposals suggest expanding NBS to include genomic sequencing for all genetic disorders, including those for neurodevelopmental disorders (NDDs).

Purpose of the Study:

• To analyze the potential risks of expanding newborn screening to include genomic sequencing for neurodevelopmental disorders (NDDs).
• To propose an alternative strategy for utilizing genomic sequencing in NDDs to promote health equity.

Main Methods:

• Critical analysis of the implications of universal genomic sequencing in newborns for NDD risk.
• Comparison of universal newborn genomic sequencing with a targeted approach for diagnosed NDD cases.

Main Results:

• Universal genomic sequencing for NDDs risks exacerbating existing health disparities due to shortages in clinical and genetic expertise for follow-up.
• Insufficient therapies for NDDs and the potential for misallocation of limited resources to at-risk infants who may not develop NDDs are significant concerns.
• A targeted strategy of sequencing all children with diagnosed NDDs could improve understanding of genetic contributions and ensure equitable access to services.

Conclusions:

• Expanding newborn screening to include genomic sequencing for NDDs may worsen health inequities.
• A more equitable and effective approach involves genomic sequencing of children already diagnosed with NDDs.
• This focused strategy can better target resources and advance research into the genetic basis of NDDs across diverse populations.