Summary:

0:00 Introduction

1:45 Wendy’s early career looking into the genetics of diabetes through mouse models

6:23 A high altitude view: Cutting through hype to spot the next wave of game-changing technology

8:03 The role of policy and communication: how Wendy’s work goes beyond the lab to create real-world impact

11:20 Wendy’s choice to do an MD PhD, and how that impacted her research career

13:50 What we knew about autism and neurodevelopment in the 2010s, and what we know now

18:05 The biggest opportunities for the treatment of rare and ultra-rare diseases

25:00 Breakthrough advances in newborn genetic screening, lessons learned from success in Spinal Muscular Atrophy (SMA)

31:29 The GUARDIAN Study: reporting on whole genome sequencing for 250 conditions and the question of cost-effective screening

37:34 Surprising revisions of our understanding of variant pathogenicity and penetrance

40:22 GUARDIAN study: Eight thousand babies from New York City successfully screened

41:33 The percentage of actionable cases arising from broad newborn whole genome screening

43:50 How do we get to universal whole genome sequencing that the healthcare system can responsibly pay for?

47:11 Closing remarks

EP 117: Wendy Chung: whole genome newborn screening and other big opportunities in genomic medicine. 47:51 Share

The Genetics Podcast

Shownotes Transcript

EP 117: Wendy Chung: whole genome newborn screening and other big opportunities in genomic medicine.