Making newborn screening for cancer risk genes a reality
Every newborn in the United States gets a “heel-stick” blood test to check for certain rare diseases, but cancer risk isn’t included.
A new project to study the implementation and promise of a genetic test using newborn heel-stick blood samples to screen for several cancer predisposition syndromes has been awarded $5 million by Alex’s Lemonade Stand Foundation. The project is led by Sharon Plon, M.D., Ph.D., professor of Molecular and Human Genetics at Baylor College of Medicine, and Lisa Diller, M.D., vice chair, of the Department of Pediatric Oncology at the Dana-Farber Cancer Institute. The team has identified nine genes that could signal a high risk for early-onset cancers, including the RB1 gene which can cause retinoblastoma, a type of eye cancer. If identified early, babies with a faulty RB1 gene could receive eye exams and treatment before the cancer progresses—preserving their eyesight and their lives.
The team’s goal is to develop an affordable, Artificial Intelligence-supported genetic test to screen newborn blood samples. They will also create educational materials for parents and test them in Boston and Houston to see how parents and pediatricians respond to this new screening. If successful, the research will help push for nationwide adoption of newborn cancer risk screening.
