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

In this episode we welcome Dr. Wendy Chung, Chair of the Department of Pediatrics at Boston Children’s Hospital and Professor at Harvard Medical School. Dr Chung has dedicated much of her career to uncovering the role of genetics in both rare and common diseases, and translating these findings into healthcare. Beyond her incredible science, Wendy has helped shape policy frameworks that govern the world of genetic medicine, and is now leading the pioneering GUARDIAN Study which has provided whole genome screening to >8,000 babies. Join us as we delve into the insights and experiences of a true pioneer in the field of genetics and medicine.

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