The Genetics Podcast
EP 135: Integration of newborn sequencing programs into healthcare systems with Dr. Ingrid Holm
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Episode notes
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