Newborn blood samples may reveal childhood cancer risks

Researchers in the United States have demonstrated that newborn heel-prick blood samples can be used to identify genetic predispositions for certain childhood cancers. A study published in Nature Communications, involving 1,948 archived dried blood samples from infants in Michigan, found that 6.8 percent of the children carried disease-causing or likely disease-causing variants in eleven specific genes associated with childhood cancer.

The findings were particularly significant for retinoblastoma, a malignant retinal tumor. Researchers identified pathogenic variants in the RB1 gene in 69 children, 68 of whom subsequently developed the tumor. This suggests that existing newborn screening protocols, which currently detect over 30 genetic conditions in countries like Austria, could potentially be expanded to include cancer risks.

In Germany, discussions are also advancing regarding genomic newborn screening (gNBS). While current routine screening prevents severe consequences from conditions like congenital hypothyroidism, projects such as ENTIRE, supported by Alliance4Rare, aim to expand the spectrum of detectable diseases. The goal is to use targeted genomic analysis to identify hundreds of additional conditions before symptoms appear, allowing for earlier and more effective medical intervention.