Newborn screening: how genome sequencing is changing early diagnosis

Interviewer: Today we're speaking with Prof. Wendy Chung from Harvard Medical School about her recent publication reporting interim results from the GUARDIAN study. This study explores a genome sequencing approach for newborn screening that has the potential to identify life-threatening conditions that are currently missed by traditional screening methods. Prof. Chung, thank you so much for joining us today. Dr. Chung: Thank you for having me. Interviewer: So can you begin by providing some context to the GUARDIAN, specifically, what gap in newborn screening it addresses, and how genome sequencing compares to traditional methods? Dr. Chung: Sure. I'm a pediatric geneticist and had started my career actually over 30 years ago with newborn screening in phenylketonuria. How the field really began. Over time had thought about that as really an incredibly effective way from an implementation point of view to support population health. That is because it is set up to screen every newborn. It's a way of being able to implement screening for conditions that are urgent, that are important, where we have treatment, and where missing a diagnosis would cause irreparable harm. In 2015, I started thinking about implementing pilot studies in the United States before we can add a condition to newborn screening. Understandably, we need to pilot and see whether or not assays work, whether or not they're acceptable by the population and whether or not we in fact improve health. So had started this with spinal muscular atrophy. That was actually incredibly successful in the sense that within a period of five years, we were able to, Number 1, demonstrate that we could do a pilot, that it was very acceptable to parents and at the time