Mendelspod Podcast

This is a free preview of a paid episode. To hear more, visit www.mendelspod.comPremal Shah says that many companies in personal genomics have emphasized quantity over quality. Premal is the CEO of Myome, a company offering whole-genome interpretation built for the clinic rather than the consumer. Shah says Myome was founded on the belief that more data isn’t better data. “Physicians don’t want a laundry list of genes,” he told us …

A few weeks back we featured a next gen PCR technology called iconPCR that carries the promise to dramatically impact research. Today we take a customer’s-eye view of the technology. Dr. Stefan Green, who directs the Genomics and Microbiome Core Facility at Rush University, has been putting the instrument through its paces on challenging projects ranging from pathogen surveillance in Chicago to ultra-low biomass cleanroom samples for NASA. “PCR is both the greatest and worst invention of all time,” he says. “It’s empowered everything in molecular biology, but it introduces biases and artifacts. With iconPCR we finally have adaptive cycling that lets us stop at the right point for each sample.”Joining him is Yann Jouvenot, Senior Director of Product at n6, who explains how the company designed iconPCR’s AutoNorm technology to take the guesswork out of amplification. “PCR is to genomics what the printing press was to knowledge,” he says. “But unlike a press, PCR doesn’t produce identical copies at cycle two and cycle twenty-five. With iconPCR we’re helping scientists cut cycles before artifacts creep in, which means more accurate data and a better chance for every molecule to be represented.”* 0:00 “I wanted a device like this a decade ago.”* 6:41 PCR, the greatest and worst invention* 10:20 The “slope” method* 18:00 Protecting small samples* 28:45 Impact on research?Together they paint a picture of a deceptively simple but transformative innovation: a thermocycler that adapts in real time, reduces artifacts, saves time and labor, and improves the quality of genomic data. 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

Alex Dickinson, former Illumina executive and now host of The Geonomics Podcast, joins us for a wide-ranging conversation on the state of DNA sequencing and its future. Known for his independent voice, Alex isn’t afraid to speak plainly about the industry’s biggest players and its shifting technology landscape.* 0:00 Squarely in the long read age* 6:10 When short reads, when long?* 9:20 Whole genome testing* 15:00 Targeted long reads* 19:40 Roche’s new technology* 23:00 Multiomics: the bigger picter* 26:50 “I love MRD!”Our focus today is the economics of short reads versus long reads, the unexpected dominance of liquid biopsy, and why long reads are proving indispensable in cancer and rare disease diagnostics. He uses an illuminative metaphor.“The genome is like a jigsaw puzzle. With short reads, you’re stuck with thousands of tiny sky-blue pieces—it’s ambiguous. With long reads, you get bigger chunks, and suddenly you can see where the pieces belong. That’s how you detect the real structural changes in cancer,” he explains.Alex also dives into the new technology from Roche, weighing their disruptive potential. Beyond sequencing, he highlights the surge in multi-omics, particularly proteomics, and the gap between fast-moving diagnostics and available therapies. “Diagnostics is now ahead in many ways. In MRD especially, we can double progression-free survival if we catch cancer’s return early. The question is, do we have enough therapies to act on all this new information?” 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 a time when many diagnostics companies are struggling, GeneDx is thriving by focusing squarely on solving one of medicine’s most pressing problems: the diagnostic odyssey for rare disease. CEO Katherine Stueland explains why the company has committed to whole exome and genome testing as first-line answers for children, and how their recent acquisition of Fabric Genomics expands their reach into AI-powered interpretation services.* 0:00 Success coming from a focus on rare disease* 5:20 Why whole genome testing?* 13:30 “No margin, no mission”* 15:50 Acquiring Fabric Genomics* 26:10 Bullish on healthy newborn screening“We’ve been focused on solving the fact that it still takes, on average, five years for a child with a rare genetic disease to get a genetic test and an accurate diagnosis. That’s something we can now provide within weeks, if not days, if not 48 hours.”On newborn screening, Stueland points to the GUARDIAN study at Columbia as a model: “What we’ve been able to find is a diagnosis in 3.2% of these otherwise healthy newborns. And the average age of diagnosis for those same conditions, in GeneDx’s 25-year history, had been 7 to 11 years. We’re now able to find them at birth.”From shortening the time to diagnosis to embedding genetic testing in general pediatrics, GeneDx is showing what it looks like to deliver on the promise of genomics in everyday medicine. 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.comFew founders get to build the future of genomics twice—Moran Snir is doing it a fourth time. After founding Clear Genetics and helping Invitae scale genetic services, she’s back with a new venture: Nest Genomics, a software platform aiming to make genomic care routine across U.S. health systems.* 0:00 Founder of four genomic medical companies* 6:55 When sho…

The story of Certis Oncology begins with a patient. In 2012, Barney Berglund was diagnosed with a rare sarcoma. Standard treatments failed him, and though his doctors at UCLA tried to create mouse avatars of his tumor to test drugs, Barney passed away before the models were ready. Out of his family’s grief came a mission: to change the trial-and-error nature of cancer treatment. They joined with physician-scientists and entrepreneur Peter Ellman to found Certis.* Chapters:* 0:00 What are PDx models?* 6:30 Orthotopic experts* 10:45 Success stories* 18:45 Winning an AI patent* 23:40 Business model* 27:40 The future will be so differentSince then, Certis has become the orthotopic experts—placing patient tumors in the “correct place” inside mice to create more faithful cancer models. These avatars don’t just support research, they’ve helped extend lives. Peter tells the story of one patient who came to him simply hoping to live long enough to dance with his daughter at her wedding. Thanks to Certis’s avatars, he did.Today, the company is pushing further. They’ve built a tumor bank nearly as large as the NCI’s and, most strikingly, just won a patent for their AI platform. “Patents in AI are rare,” Peter told me. “To us, this one isn’t just a legal win—it’s recognition that our predictive platform is novel and fundamental to how oncology will be done in the future.”Ellman imagines a not-so-distant future where drug success rates could rise from 10% to 50%, creating a world where “standard of care gives way to truly personalized medicine.”Sponsor: 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

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