EP 135: Integration of newborn sequencing programs into healthcare systems with Dr. Ingrid Holm
May 16, 2024
Welcome to Episode 135 of The Genetics Podcast, where we welcome Dr. Ingrid Holm, an Associate in Medicine at Boston Children’s Hospital and a Professor of Pediatrics at Harvard Medical School. Ingrid is passionate about integrating newborn screening programs to healthcare systems. She was the co-investigator on the original BabySeq study and is now co-leading a new study — BabySeq2: Bringing equity to genomic sequencing in newborns. She also leads pioneering work in a range of other paediatric projects, all of which we discuss in this episode!
0:00 Introduction
1:30 Ingrid’s initial interests in genetics, paediatrics, and newborn screening
2:45 How the original BabySeq project, a pioneering newborn sequencing program got started, how it’s going, and the launch of BabySeq2
8:45 Lessons from BabySeq1 and goals for BabySeq2
10:30 Potential societal and long-term considerations for those involved in newborn sequencing programs
15:00 The range of genes tested in newborns and potential implications for family members
20:00 Ingrid’s predictions for the field of paediatrics and the medical school curriculum
24:00 Thoughts on Sudden Infant Death Syndrome (SIDS) and ethical considerations for parents wanting to have another child
30:30 Projections for BabySeq2, as well as barriers and facilitators to universal newborn screening
35:45 Addressing affordability of newborn genetic programs and commentary on healthcare economics
38:50 Predictions for how paediatric care will change if healthcare systems widely adopt newborn sequencing
42:15 A promising study targeting the FUS mutation for childhood ALS
43:30 Closing remarks