Q&A: Screening all newborns for neurodevelopmental disorders comes with risks
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Key takeaways:
- Experts argued against screening all newborns for developmental disorders, saying it would worsen disparities.
- Instead, they suggested performing genomic sequencing of all children with a diagnosed disorder.
Expanding newborn screening to identify genes associated with an increased risk for neurodevelopmental disorders could exacerbate disparities, among other drawbacks, experts wrote in Pediatrics.
Instead, they recommended genomic sequencing for children who have already been diagnosed with a neurodevelopmental disorders (NDD).
We spoke with Sarah Sobotka, MD, MSCP, assistant professor of developmental and behavioral pediatrics at the University of Chicago, about the article and the risks of genomic sequencing.
Healio: Are there any risks in genomic sequencing of newborns for NDDs?
Sobotka: Yes, there are definite risks to genomic sequencing of newborns for NDDs, and we believe these risks outweigh the benefits.
On the individual level, expanding newborn screening to inlcude NDD would mean that some families would suffer the distress associated with their children being labeled at risk of NDD, but they will never manifest delays. This harm could have been avoided if only children who manifested disabilities were tested. In contrast, some families may be falsely reassured by negative screening, ignoring signs of developmental delays.
On a population level, the greatest risk of genomic sequencing newborns for NDDs is that it would worsen disparities in access to diagnostic evaluation and habilitative therapies because many more children will be identified, including those who will never manifest delays. Parents with more resources and advocacy skills will be more successful in gaining access to these genetic, neurodevelopmental and therapy experts regardless of the likelihood that their child will manifest delays. This would shift critical resources away from children from minoritized and disadvantaged populations.
Healio: How would this alternate method work?
Sobotka: In current practice, children with NDDs receive variable and limited genetic testing. We are proposing genomic sequencing of all children with diagnosed NDDs, with parental permission, of course.
Healio: How do you recommend pediatricians and primary care providers counsel parents about this?
Sobotka: We recommend that pediatricians discourage expanding newborn screening to include NDDs. We would recommend primary care providers explain to parents that we do not yet know enough about which genetic differences result in children having neurodevelopmental disabilities. Pediatricians could offer reassurance that through the course of general pediatric care, the child will be closely monitored to see if he/she is meeting developmental milestones. If there is a concern about developmental delays, the child will be referred to early intervention for therapies.
Healio: Is there anything I have not asked about that would be important to note?
Sobotka: We are very supportive of population-based interventions that improve neurodevelopmental outcomes. Many critical early childhood support systems do not universally exist, for example: access to early head start programs, preschool and supportive family-leave policies. These programs have all been proven to improve neurodevelopmental outcomes in vulnerable children and ought to be our first public-health initiatives; not expanding newborn screening.
References:
Sobotka S, et al. Pediatrics. 2023;doi: 10.1542/peds.2023-061727.
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