EP 185: From newborn screening to lifelong data in an evolving genomics landscape with Madhuri Hegde of Revvity

This week on The Genetics Podcast, Patrick is joined by Madhuri Hegde, SVP and Chief Scientific Officer of Revvity. They discuss Revvity’s advances in ultra-rapid clinical-grade sequencing, opportunities, challenges, and global inequities in newborn screening, and the dilemma of resequencing versus long-term data storage.

Show Notes: 

0:00 Intro to The Genetics Podcast

00:59 Welcome to Madhuri

01:52 Rebranding Revvity as a healthcare company

02:51 Advancements in sequencing and Revvity’s projects, including newborn screening tests and clinical ultra-rapid sequencing

12:29 Opportunities and challenges for newborn sequencing and global inequity in access

17:46 Price of sequencing and data storage versus resequencing considerations

21:10 Complexities and nuances of genomic data interpretation

23:28 Rethinking data portability and storage across the lifespan

26:00 Understanding penetrance and population genetics through lifelong sequencing

27:36 Scaling genetic counseling to match advancements and the potential value of chatbots

32:45 The promise of proteomics and translating Olink data to the clinic

 

34:31 Implementing polygenic risk scores in clinical management  

37:12 Transitioning from academia to industry and insights into product development

38:37 Closing remarks

Find out more

• Revvity (https://www.revvity.com/)

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