Genomic Newborn Screening Could ID Cancer Predisposition Syndrome

FRIDAY, Aug. 14, 2026 (HealthDay News) — About 1 in 27,000 newborns develop an early-onset malignancy with an associated pathogenic or likely pathogenic variant, which can be identified in genomic newborn screening, according to a study published online Aug. 12 in Nature Communications.

Lisa Diller, M.D., from the Dana-Farber Cancer Center in Boston, and colleagues identified 1,948 children developing a solid or central nervous system malignancy by age 8 years within a Michigan birth cohort (1987 to 2020). Targeted sequencing of 11 cancer predisposition genes was performed using archived newborn dried blood spots of DNA.

The researchers identified pathogenic or likely pathogenic germline variants in 6.8 percent of cases: RB1, TP53, SMARCB1, WT1, RET, SUFU, PTCH1, DICER1, APC, and PHOX2B (69, 24, eight, seven, six, six, four, four, three, and one cases, respectively). About 1 in 27,000 newborns developed an early-onset malignancy with an associated pathogenic or likely pathogenic variant. The prevalence of germline variants was 100 and 40 percent in medullary thyroid carcinoma and retinoblastoma, respectively, and 11 to 30 percent across five additional diagnoses; strong gene-tumor specificity was observed.

“Through the collaboration of newborn screening programs, geneticists, and oncologists, preventive care can be provided to children who would otherwise remain undiagnosed until symptoms of their cancer developed,” co-senior author Richard B. Parad, M.D., M.P.H., from Harvard Medical School in Boston, said in a statement.

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