Dana-Farber study suggests newborn genetic screening for cancer risk

A study published in Nature Communications suggests that incorporating genetic testing into routine newborn screening could identify children with a genetic predisposition to certain childhood cancers before symptoms appear.

Researchers from the Dana-Farber Cancer Institute in Boston analyzed blood samples from nearly 2,000 newborns who later developed solid tumors or central nervous system tumors by age eight. Using a panel of 11 genes associated with pediatric cancer syndromes, scientists identified pathogenic or likely pathogenic germline variants in 132 of the children, representing 6.8% of the cases.

Lead author Dr. Lisa Diller noted that at least 10% of children who develop cancer have a genetic predisposition syndrome. The study estimates that approximately 1 in 27,000 newborns will develop a solid or brain cancer associated with the investigated genetic variants by age eight, a frequency comparable to or higher than some conditions already included in neonatal screening.