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

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