Genetic testing added to routine newborn screening could identify babies at increased risk of developing cancer before symptoms appear, according to a study being published Aug. 12 in Nature Communications.
The study was led by Lisa Diller, MD, vice chair of pediatric oncology at Boston-based Dana-Farber Cancer Institute, in collaboration with Richard Parad, MD, and Arindam Bhattacharjee, PhD, from Somerville, Mass.-based Mass General Brigham.
Researchers analyzed archived newborn dried blood spots from 1,948 children born in Michigan between 1987 and 2020 who later developed a solid or brain tumor by age 8, then sequenced 11 genes linked to a higher risk of developing pediatric cancer.
Here are three notes from the study:
- Researchers found pathogenic or likely pathogenic variants in 132 children, about 7% of the group.
- All six children who developed medullary thyroid carcinoma had a germline RET mutation and 40% of children with retinoblastoma had a germline RB1 mutation.
- Across several other cancers, 11% to 30% of cases had a detectable mutation in one of the genes studied.
“These findings provide strong evidence that selected pediatric cancer-risk genes could be valuable additions to expanded newborn screening, particularly when early detection can lead to closer surveillance, earlier diagnosis and less toxic treatment,” an Aug. 12 news release from Dana-Farber said.
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