Studies of genomic newborn screening are highly skewed towards populations in high-income countries. The evidence generated by these studies will be similarly biased and is likely to lead to disparate global implementation. Studies inclusive of historically under-represented populations are needed for equitable global access to genomic newborn screening.
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The spinal muscular atrophy pilot study is being supported by an unrestricted medical grant from Novartis/AveXis.
The author declares no competing interests.
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Abou Tayoun, A.N. Unequal global implementation of genomic newborn screening. Nat Rev Genet 24, 801–802 (2023). https://doi.org/10.1038/s41576-023-00654-1