Genetic screening for childhood cancer risk shows early intervention potential

Newborn genetic screening for 9 cancer-linked genes could prevent fatal childhood cancers with minimal treatment.

A research project led by medical geneticists Sharon Plon, pediatric oncologist Lisa Diller, and neonatologist Richard Parad developed a newborn screening test for 9 genes associated with childhood cancers. The approach was demonstrated through the case of Eveyana Oakes, who avoided chemotherapy and radiation after receiving early monitoring at 6 weeks due to a genetic mutation that carried a 90% risk of retinoblastoma—cancer fatal without intervention. Current US federal guidelines recommend screening for 40 core conditions at birth, while states like Massachusetts screen for 66 conditions. The test targets cancers with established early childhood monitoring protocols, potentially reducing mortality and treatment costs. However, newborn cancer screening for genetic mutations is not routine in the US, and the clinical utility of testing for low-risk variants (e.g., 15% cancer probability) remains debated. Risk communication to parents also presents ongoing challenges. This work shows how early genetic detection could preserve vision and avoid aggressive therapies for specific childhood cancers, making critical health interventions more accessible where protocols exist.

Source: Science News