Newborn Genetic Screening: Coming to a Nursery Near You?

We currently screen newborns for many treatable conditions via metabolic analyses. As technology improves, might we also screen them for a larger group of diseases through DNA analysis?

In a new study, investigators approached the families of 4700 newborns in an Italian hospital to determine the feasibility of whole-exome sequencing using dried blood samples. Most babies were born at term and healthy. Over 500 childhood-onset diseases were selected for screening based on the utility of early diagnosis and treatment. A multidisciplinary team that included a geneticist and relevant subspecialists interpreted the test results.