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Getting the latest healthcare news for you
Getting the latest healthcare news for you
Screening newborns for cancer-linked gene mutations could soon be routine. Researchers analyzed dried blood spots from nearly 2,000 children who later developed cancer and found that a targeted 11-gene panel could have flagged roughly 1 in 27,000 newborns at birth. Experts say the technology is feasible and could become standard of care within five to ten years.
Catching childhood cancer before it starts
A new study published in Nature Communications suggests that genomic newborn screening could identify babies at elevated risk for certain childhood cancers — potentially before any symptoms appear. Researchers from Dana-Farber Cancer Institute and Mass General Brigham analyzed archived dried blood spots from nearly 2,000 children who later developed solid or brain tumors by age 8, using a targeted panel of 11 cancer predisposition genes.
The results were striking: pathogenic variants were found in 6.8% of cases, with the strongest signals in RB1 (retinoblastoma), TP53, SMARCB1, and WT1. Gene-tumor specificity was remarkably strong — 100% of medullary thyroid carcinoma cases carried a RET mutation, and 40% of retinoblastoma cases had an RB1 variant. Researchers say early identification could allow less aggressive treatment and better outcomes.
By the Numbers
Why it matters: Early detection means less toxic treatment. A child identified at birth with an RB1 mutation can receive regular eye exams and, if a tumor develops, be treated with laser or cryotherapy — avoiding chemotherapy, radiation, and potential blindness. Experts believe universal implementation could be feasible within five to ten years.
