Newborn sequencing

Researchers hope the new list of identifiable conditions—treatable during or after pregnancy—will help families prepare for what’s ahead and give their babies the best possible start.

“The ability to diagnose and treat nearly 300 actionable genetic conditions in fetuses and newborns marks a significant milestone in modern medicine. From traditional heel stick tests to cutting-edge genomic sequencing, these advances empower families with critical information and life-saving options. As research continues to evolve, integrating these technologies into routine prenatal and neonatal care … Continued

“We saw a critical gap in prenatal care and an opportunity to define the genetic disorders that are treatable during this time,” said senior author Nina Gold, director of Prenatal Medical Genetics at Massachusetts General Hospital and an assistant professor of pediatrics at Harvard Medical School. “These conditions are actionable — meaning that, empowered with … Continued

In this recent editorial, Nature Medicine argues that every baby deserves access to genetic screening. There are currently several international studies underway—including the Generation Study, Guardian Study, and the BabySeq Project—that are evaluating the utility and challenges of implementing routine expanded newborn genetic screening. Nature Medicine concludes that while newborn sequencing has great potential to … Continued

In this interview with the European Medical Journal, Dr. Nina Gold reflects on what inspired her career in pediatric genetics. She describes her work in clinical and research settings, particularly in the context of newborn genomic screening.