Targeted genomic sequencing of newborn dried blood spots identified cancer-predisposition variants in 7% of pediatric patients developing malignancies by age 8.
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The study analyzed 1,948 patients born in Michigan from 1987 to 2020 who developed tumors by age 8, using archived newborn dried blood spots.
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RB1 variants accounted for the majority of detected pathogenic variants, with strong gene-tumor specificity observed in associated tumors.
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Patients with detected cancer-predisposition variants were diagnosed at a median age of 14 months, compared to 32 months for those without variants.
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The study highlights limitations, including a lack of a large comparison cohort and exclusion of certain cancer-predisposition syndromes.
