Using a panel of 11 genes linked to pediatric cancer predisposition syndromes, researchers found pathogenic or likely pathogenic variants in 7% of newborns who later developed a solid or brain tumor.Targeted sequencing of this panel would identify approximately 1/27,000 infants who will develop cancer by age 8 years in the setting of a genetic cancer predisposition syndrome.Researchers said it is feasible to conduct genomic newborn screening universally.
Adding genomic testing to routine newborn screening identified children at increased risk of developing certain childhood cancers, researchers found.
By analyzing archived newborn dried blood spots from nearly 2,000 children who later developed a solid or brain tumor by age 8 years, and using a panel of 11 genes linked to pediatric cancer predisposition syndromes, pathogenic or likely pathogenic variants were found in 132 children (6.8%), reported Lisa Diller, MD, of the Dana-Farber Cancer Institute in Boston, and colleagues.
The results show that "targeted sequencing of a panel of cancer predisposition genes would identify approximately 1/27,000 infants who will develop cancer by age 8 in the setting of a genetic cancer predisposition syndrome," they wrote in Nature Communications. "Our data support newborn screening for selected cancer-risk genes."
