In the most recent episode of The Genetics Podcast, Patrick speaks with Dr. Madhuri Hegde, SVP and Chief Scientific Officer at Revvity. Madhuri’s work has helped shape how genetic technologies, from next-gen sequencing to mass spectrometry, are applied in clinical practice around the world. Their conversation covers the evolution of newborn screening, the promise of whole genome sequencing at birth, and the infrastructure needed to make this work on a global scale.
From Sanger to scalable sequencing
Madhuri’s career began in academic genetics during the Sanger era. She witnessed and helped drive the transition to next-generation sequencing (NGS), particularly in the context of rare neuromuscular diseases. The dramatic growth of gene discovery between 2006 and 2010 was largely thanks to NGS becoming routine in both research and diagnostics.
Today, short-read and long-read sequencing technologies are increasingly running in parallel. While long-read platforms aren’t yet widespread in clinical labs, Madhuri sees that changing as validation methods improve. Still, she points out that sequencing isn’t the full picture; technologies like optical genome mapping and untargeted mass spectrometry are becoming just as important in making accurate diagnoses.
Revvity's efforts to expand global access to newborn screening
Revvity has clinical labs in India, China, Sweden, the UK, and the US, giving the team a truly global reach and the ability to serve patients and researchers around the world. Rather than shipping samples internationally, they aim to provide local access to advanced genomic services. Newborn screening is at the core of their work: Revvity is a world leader in manufacturing dried blood spot kits used in over 110 countries, enabling early detection of conditions like phenylketonuria (PKU) and congenital hypothyroidism.
In the US, every newborn undergoes screening, but in countries like India, where 26 million births occur annually, it’s still not standard practice. One of Madhuri’s big goals is to make sure more babies around the world have access to basic newborn screening, while also pushing forward the next step of bringing genomics into the picture.
Whole genome sequencing from a heel prick
Revvity was one of the first companies to offer clinical-grade whole genome sequencing directly from dried blood spots, the same samples used in standard newborn screening. This opens up new possibilities for scalable genomic screening, especially in public health systems.
By combining sequencing with programs like ViaCord, which already engage parents during pregnancy, Madhuri believes it’s possible to introduce genome testing in a way that’s proactive, ethical, and easy to implement. Their team has published results on this model and is working on expanding to rapid genome sequencing in NICUs and routine clinical testing across age groups.
Mass spectrometry meets genomics
Madhuri is equally excited about the potential of untargeted mass spectrometry. While most newborn screening today is targeted (i.e., looking for one analyte at a time), untargeted metabolomics could help uncover previously unknown biomarkers and support conditions that are still considered undiagnosable.
She sees a future where sequencing and mass spectrometry evolve side by side, complementing each other in newborn screening and in other areas of healthcare.
A global approach to equity
There’s a growing interest in sequencing all newborns, but cost, logistics, and interpretation remain major challenges. While some countries may be ready to implement whole genome sequencing universally, many aren’t. That’s why Revvity is also developing a globally relevant gene panel: a curated list of genes that strike a balance between actionability, frequency, and affordability.
By tailoring panels to local populations by including region-specific variants, this approach could make genomic screening equitable and scalable worldwide.
The true price of a genome
Despite the predictions of a future in which a $100 genome will be possible, Madhuri reminds us that sequencing is just one piece of the puzzle. Clinical-grade genome sequencing requires much more: sample preparation, library construction, expert interpretation, and follow-up all add to the cost. When it comes to data storage, she believes biobanking DNA might actually make more sense than storing massive sequencing files, especially as technology keeps evolving and re-sequencing is likely to become easier and cheaper.
The art and science of interpretation
Automation and AI are helping streamline variant classification, but human judgment is essential, especially when interpreting and communicating nuanced findings. Genetic counseling is another major challenge as genomic testing continues to expand. While digital tools like chatbots and automated platforms can help answer basic questions or explain simple concepts, they don't represent a comprehensive solution. Understanding complex or uncertain results often requires a trained expert who can explain what the findings mean in context, help families weigh difficult decisions, and provide emotional support. Madhuri says that education, both for patients and healthcare providers, is key, as is maintaining space for human interaction when it matters most.
Madhuri also emphasizes the importance of planning for re-analysis. Many families consider genetic testing or counseling again when an affected child is older or planning a family of their own. Building policies and infrastructure that support this kind of lifelong genomic care will be critical.
Connecting screening to clinical trials
One of the most exciting challenges Madhuri sees is linking newborn screening to emerging therapies and clinical trials. As gene therapies and CRISPR-based treatments gain traction, early diagnosis becomes even more important. Revvity is therefore working with pharma partners to develop better systems for connecting families with appropriate options, such as a trial, a treatment, or long-term monitoring.
Looking ahead
The tools we use to understand health through genetics are becoming more advanced, with proteomics and genetic risk scores becoming more common. Madhuri is especially excited about programs like Early Check in North Carolina, which take a more holistic approach, combining genetic screening with antibody testing to catch early signs of type 1 diabetes. It’s a promising example of how we can move beyond merely identifying risk, and instead using valuable information to intervene earlier and potentially delay or prevent disease.
Madhuri also sees momentum building around using polygenic risk scores for conditions like breast cancer, though it’s still early days for translating those insights into clinical care. For her, the real challenge and opportunity lie in implementation: not just discovering what’s possible, but working out how to make it safe, ethical, and scalable.
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