Mendelspod Podcast

For his first interview as CEO of Myriad Genetics, Sam Raha joined us to help kick off Mendelspod’s 15th season. Raha, who took the helm in April after serving as COO and holding senior roles at Illumina and Agilent, leads Myriad at a pivotal moment. While consumer genomics has faltered—23andMe filed for bankruptcy earlier this year—Myriad continues to double down on its clinical strategy with new offerings in oncology, prenatal testing, and mental health.* 0:00 New MRD and HRD testing* 5:30 What has you excited?* 9:32 Great numbers year after year - what’s your secret sauce?* 16:00 “A long way to go” on physician education* 20:15 Thoughts on DTC?* 23:40 First test using AI* 27:00 The decade aheadMyriad has announced strong financials and a robust pipeline, including its first AI-powered test for prostate cancer launching in early 2026 and a proprietary minimal residual disease (MRD) test slated for mid-2026. “We’re still in the early innings of the golden age of genomics,” Raha said. “What excites me is taking a brand that’s well-known in our space and really having the company live up to its potential.”In this wide-ranging conversation, Raha discussed what he sees as Myriad’s “secret sauce” for steady growth, the need for greater physician education—“we have a long way to go”—and his vision of combining genomics with imaging, proteins, and AI over the next decade.“Success is not just the numbers,” he emphasized. “We can grow in the low double digits profitably, while being a company that patients, providers, and employees are proud to work with.” This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe

Catching a cancer relapse before any scan could see it is the ultimate goal for minimal residual disease or MRD testing. And it’s the promise behind Foresight Diagnostics, a Stanford spin-out co-founded by scientist Jake Chabon and oncologist David Kurtz who say they have arrived at “next gen” MRD testing. In this debut interview, Jake and Dave walk us through their journey from academic research to launching one of the most sensitive MRD tests on the market—one that’s already shaped new NCCN guidelines.* 0:00 Origin story * 4:45 What makes this “next gen?” * 10:15 How do you get the leap in sensitivity * 15:45 Already had an impact on NCCN guidelines * 23:00 Launching lymphoma texting next year, then on to solid tumors * 28:00 How will this change standard of care?Jake explains how their novel PhasED-Seq technology, which tracks “phased variants”—usually two or three mutations on the same DNA molecule—enables unprecedented sensitivity, detecting cancer cells at levels as low as one part in 10 million. “It’s extremely unlikely to have two concurrent sequencing errors,” says Jake. “That’s functionally the core insight here.”For Dave, who still treats lymphoma patients, the clinical need is personal. “Our goal is to treat patients until there are no more cancer cells in the body. So having a tool that tells you when there are no more cancer cells left is kind of our holy grail.”Their MRD test, called Foresight CLARITY, launches first for lymphoma next year, with solid tumor applications in development. As their data have already begun to reshape the standard of care, Jake and Dave discuss a future in which MRD testing could come before PET scans—or even replace them.“We want MRD testing to become the standard of care across all cancers treated with curative intent,” says Jake. With Foresight CLARITY already in three prospective trials and in NCCN guidelines, and a clear clinical need, that vision may not be far off. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe

Epigenetics has emerged as one of the most revealing windows into cancer biology. Long before genetic mutations appear, changes in DNA methylation can initiate tumorigenesis, shape tumor diversity, and provide powerful clues for biomarker discovery.In this episode of Mendelspod, we explore Illumina’s new 5-base solution with Dr. Bodour Salhia, a cancer epigenetics researcher at USC’s Keck School of Medicine, and Danielle Goldberg, senior product manager at Illumina. The conversation brings together the researcher’s perspective and the technology developer’s vision on how this advance could reshape cancer research.Dr. Salhia explains why DNA methylation is such a powerful lens into cancer biology:“DNA methylation is fundamental for regulating gene expression and maintaining genome integrity. It’s also one of the earliest tumorigenic events that often precedes genetic mutation.”She details the challenges of older methods like whole-genome bisulfite sequencing and why her lab was eager to test the new workflow.Goldberg describes what makes Illumina’s 5-base solution a leap forward:“It’s a single assay that gives you dual insights—one library prep, one sequencing run, and an analysis pipeline that enables the detection of both genomic variants and methylation with high accuracy.”Together, they discuss how combining genetic and epigenetic information in one streamlined workflow not only increases efficiency and reduces cost but also eliminates biases introduced by multiple assays. The result, they say, is a more integrated view of cancer biology and more accessible research at a time when budgets are tightening.Looking ahead, both Salhia and Goldberg envision deeper integration of genomic and epigenomic data accelerating discovery and biomarker development.To learn more about Illumina’s 5-base solution, tune into an upcoming webinar here. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe

Reinventing PCR, huh? That’s what we asked Pranav Patel, CEO and co-founder of N6 Tec, on today’s show. After all, PCR is one of the oldest tools in the molecular biology toolbox. Isn’t that field… done?Turns out, not at all.Patel — a veteran of PacBio, 10x Genomics, and founder of 2D Genomics — is back with a bold rethink of thermocycling itself. His new platform, IconPCR, isn’t just another black box with 96 wells. It’s the first of its kind to feature independently controlled wells, enabling real-time amplification, quantification, and normalization — all in a single run. If PCR was once just about making more DNA, IconPCR is about making just the right amount, at just the right time — and eliminating the variability that can quietly wreck your sequencing before it even starts.“Instead of me telling it how many cycles, I can tell it how much DNA I want — and it will determine the cycles by itself. That’s the fundamental shift,” he says.But maybe the bigger shift is cultural — a refusal to treat sample prep as solved, and a willingness to build new tools for today’s applications, not yesterday’s.“It gets branded as a PCR machine. But honestly, the capability of it is so much more. It does what would otherwise take multiple instruments — and it does it from day one.”With a blend of unaffected humor and technical rigor, Pranav walks us through the frustration that led to this innovation, the simplicity of the idea, and the engineering feat that makes it possible. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe

Today we sit down with renowned geneticist David Ledbetter, whose pioneering work helped uncover the chromosomal basis of Prader-Willi, Angelman, and Miller-Dieker syndromes. He served as Chief Scientific Officer at Geisinger, where he led the MyCode Community Health Initiative—one of the largest population genomic screening programs in the world. Now, he's bringing his decades of experience to bear on a bold new initiative: the Institute for Pediatric Rare Diseases at Florida State University.Funded through Florida’s landmark Sunshine Act, the new institute is part of a broader vision to create a statewide pediatric genetics network and pilot universal newborn whole genome screening. Ledbetter walks us through how this model could reshape not only early diagnosis but the entire standard of care for children with rare genetic conditions.* 0:00 From 5 to 50% rare disease diagnosis* 4:00 The MyCode story at Geisinger* 7:00 Leading the new pediatric rare disease institute at FSA* 11:20 Moving closer to universal newborn screening* 20:20 More information is better* 34:00 WGS as universal platformLedbetter is bullish on whole genome sequencing (WGS) as the foundation for future genetic testing:“Whole genome sequencing is becoming the universal platform for genetic testing. That greatly simplifies testing—physicians no longer need to know dozens of platforms. They just need to provide good clinical info, and we’ll handle the rest.”He also makes the ethical case for early diagnosis as a matter of patient rights:“If you really have a genetic technology that can identify every rare genetic disease individual at birth, that child has the right to be found.”From the cost and logistics of trio testing to the promise of AI in variant interpretation, this conversation offers a powerful glimpse into where rare disease diagnosis is headed—and why Florida may be leading the way. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe

In this special tribute episode, Mendelspod honors the life and legacy of Dr. Atul Butte (1969-2025), a towering figure in big data and precision medicine who passed away earlier this year. Atul was more than a pioneer in translational bioinformatics—he was a mentor, a builder, and a boundless source of ideas. He sought to “lift all boats in the harbor.”Joining the conversation are three scientists who worked closely with him and continue to carry forward his vision:* Dr. Marina Sirota, UCSF professor and acting director of the Bakar Computational Health Sciences Institute,* Dr. Chirag Patel, associate professor at Harvard’s Department of Biomedical Informatics,* Dr. Mike Snyder, chair of genetics at Stanford and longtime collaborator.Together, they reflect on Atul’s energy, his fearlessness, and his talent for getting to the right question. “Nearly everything I know about doing science I learned from Atul,” says Marina. “He taught us how to ask the right questions—and how to tell the story so others would care.”Chirag speaks to the connective tissue of Atul’s thinking: “He helped us link previously disconnected fields—gene expression, hospital systems, exposures—and showed us that the real frontier is in the integration.”Mike recalls Atul’s blunt honesty and unmatched creative force: “He was a fire hydrant of ideas. When others were cautious, he just said it like it was. And often, he was right.”The episode traces Atul’s influence from his early work mining public gene expression data at Stanford, to building the UCSF clinical data warehouse and leading data-sharing efforts across the entire University of California system. In each role, he remained committed to one core belief: that data should not sit idle—it should lead to insights, tools, and ultimately, better health for patients.From early exposomics to the new AI-enhanced diagnostics, his legacy stretches across the most urgent frontiers in biomedical research today. As Mike puts it, “There were no boundaries in Atul’s science. He just moved—quickly—into what mattered.” This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comMost cancer biomarkers aren’t found in your DNA—they’re found on a microscope slide. And according to Dr. Andy Beck, CEO and co-founder of PathAI, that slide is undergoing a digital transformation.In this episode, Andy takes us behind the scenes of modern pathology to reveal how AI is reshaping not only cancer diagnostics but also drug development. From…

In this episode of Mendelspod, we’re joined by Raju Rayavarapu, bioinformatician at DNAnexus and former FDA data specialist, to discuss how regulatory science is adapting to the age of AI, big data, and cloud platforms.* 0:00 How has AI changed regulatory informatics?* 4:15 KISS* 12:50 On standards* 25:00 So nothing new about AI? The juicy question of the interview* 32:45 Raju’s life: good days and bad nightsDespite the buzz around AI, Raju insists the fundamentals haven’t changed much. “It still essentially follows the same patterns,” he says. “Here's data that needs to be analyzed in order to help make a safety and efficacy decision.” What has changed is scale: more data, more submissions, more complexity. But also more tools.On that note, Raju makes a strong case for keeping it simple. “It's a really strange choice to do something like a complex language model when all you really need is a string search,” he says. Simpler tools not only reduce costs and computing overhead, they’re more transparent—an essential trait in a regulatory environment where explainability is everything.Oh, come on, Raju . . . what’s really different about AI? He warns against blind trust in black-box models, especially when trained on biased datasets. We also explore cloud adoption, standardization, and the global regulatory landscape. Raju explains how DNAnexus is working behind the scenes with agencies around the world to implement trusted environments and validate evolving standards. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe

This is a free preview of a paid episode. To hear more, visit www.mendelspod.com“Genomics works. Don’t be scared of it.” That’s the message from Mike Kreitzinger, a longtime Illumina leader now advising the Institute for Pediatric Rare Disease at Florida State University and stepping into a broader role as a genomics advocate.In this episode, Mike gives us an inside look at Florida’s newly funded Sunshine Genetics Act, which includ…

Illumina’s new interpretation software, Illumina Connected Insights, signals a turning point in oncology genomics—where sequencing power meets end-to-end clinical utility. On this episode of Mendelspod, host Theral Timpson sits down with Jing Gao, VP of Software Engineering at Illumina, to explore how the company is extending its leadership from sequencers to software.“We’ve moved from offering modular tools to building full-stack solutions,” Jing explains. “Connected Insights is about taking raw genomic data and delivering meaningful answers—quickly and consistently.”* 0:00 With Connected Insights, Illumina now has end-to-end support* 4:30 What’s your niche in oncology?* 10:40 Can software really interpret biology?* 14:45 What’s new and updated?* 17:00 The future of genomic interpretation in oncologyFrom variant annotation to case summaries aligned with clinical guidelines, Connected Insights integrates more than 55 curated databases, AI-driven tools like SpliceAI and PrimateAI-3D, and a design philosophy that emphasizes both comprehensiveness and human-centered transparency.Gao previews upcoming innovations—such as integration with Illumina’s MRD and Constellation technologies—and paints a future where interpretation is more automated, collaborative, and expansive.“Our goal,” says Gao, “is not to replace scientists, but to scale their expertise. Connected Insights is an intelligent assistant that amplifies what experts do best.”🎧 Also, don’t miss the GenomeWeb Webinar on July 9 at 10 AM EDT, where Jing Gao and team go deeper into real-world use cases and the future of variant interpretation in precision oncology. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe