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Madhuri on newborn screening

From EP 185: Newborn screening to lifelong data in evolving genomics landscape | Madhuri Hegde of Revvity · · Sano Genetics

“Today whole newborn screening is a public health program and it is not just the test — there is a whole system around it: quality components, nurses for sample collection, and follow‑up. We are not thinking enough about what newborn sequencing would mean in a public‑health setting, and beyond sequencing costs the data storage for whole genomes is not cheap.”

Madhuri
Senior VP & Chief Scientific Officer, Revvity
Policy Impact newborn screeningpublic healthgenome data storagehealth policy

On , Madhuri, Senior VP & Chief Scientific Officer at Revvity, spoke about newborn screening during EP 185: Newborn screening to lifelong data in evolving genomics landscape | Madhuri Hegde of Revvity on Sano Genetics.

EP 185: Newborn screening to lifelong data in evolving genomics landscape | Madhuri Hegde of Revvity
Watch on YouTube at 16:24
EP 185: Newborn screening to lifelong data in evolving genomics landscape | Madhuri Hegde of Revvity
Sano Genetics
Watch on YouTube at 16:24
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 01:00 Welcome to Madhuri 01:59 Rebranding Revvity as a healthcare company 03:02 Advancements in sequencing and Revvity’s projects, including newborn screening tests and clinical ultra-rapid sequencing 13:06 Opportunities and challenges for newborn sequencing and global inequity in access 18:38 Price of sequencing and data storage versus resequencing considerations 22:05 Complexities and nuances of genomic data interpretation 24:31 Rethinking data portability and storage across the lifespan 27:10 Understanding penetrance and population genetics through lifelong sequencing 28:53 Scaling genetic counseling to match advancements and the potential value of chatbots 34:20 The promise of proteomics and translating Olink data to the clinic 36:12 Implementing polygenic risk scores in clinical management 39:03 Transitioning from academia to industry and insights into product development 40:33 Closing remarks Find out more Revvity (https://www.revvity.com/) Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_... #genetics #genomics #precisionmedicine
Madhuri

About Madhuri

Senior VP & Chief Scientific Officer · Revvity

Madhuri Hegde, Senior Vice President and Chief Scientific Officer at Revvity, appeared on The Genetics Podcast in May 2025 to discuss the company's work in ultra-rapid clinical-grade sequencing and newborn screening. She emphasized that newborn screening is a public health program involving a system of quality components, sample collection, and follow-up, and argued that the field is not adequately considering what newborn sequencing would entail in a public-health setting. Hegde also expressed concern about fixation on the "$100 genome," stating that the complete cost of sequencing includes sample preparation, interpretation, and data storage, not just the sequencing itself. Regarding data storage, Hegde stated that it is often cheaper to store dried blood spot cards and DNA than to archive and reanalyze large genome files, as sequencing technology is evolving rapidly. She suggested that resequencing later may be more practical than long-term data storage. Hegde also noted that Revvity has rebranded as a healthcare company and is advancing projects including newborn screening tests and clinical ultra-rapid sequencing.

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