Mendelspod Podcast

When should a genetic test be ordered—and who decides? It’s a question we are constantly asking on the program. Dr. David Braxton, Chief of Molecular Pathology at Hoag Memorial Hospital in Southern California, has built a system where the answer is simple: the pathologist decides. At Hoag, reflex testing protocols automatically trigger genomic tests when certain cancers appear under the microscope—embedding precision medicine directly into the biopsy workflow.* 0:00 How did you become an advocate for precision medicine?* 5:50 What triggers the ordering of a genetic test?* 12:00 Using national lab vs in-house* 19:03 Which areas show most progress?* 24:32 A fan of early cancer testing?* 29:42 How digitized is your lab?* 42:45 Moonshot? Treat CHIP“We developed standardized operating procedures where if a pathologist sees certain types of cancers in certain states, they automatically order the genomic testing,” Braxton explains. “It’s all very formalized. We call it pathologist-initiated reflex testing—and it gets results into the medical record before the oncologist even sees the patient.”Braxton talks about making genomic profiling routine in a community setting, the barriers that still slow precision medicine—education, reimbursement, regulation—and how digital pathology and AI are reshaping what pathologists can see and do. “The real value of digital pathology and AI,” he says, “isn’t necessarily helping pathologists do their jobs quicker or better—it’s going beyond what the human eye can see.”Braxton offers a pragmatic, hopeful look at how community hospitals can lead the next phase of precision oncology. We discuss the increasingly used MRD testing and get Braxton’s thought’s on early cancer detection tests. In the end, he shares his “moonshot:” using molecular diagnostics to detect clonal hematopoiesis, a precursor state that silently increases risk for leukemia, heart disease, and other inflammatory conditions. “If you want to talk about the role of diagnostics in decreasing chronic conditions like heart attacks and cancer,” he says, “this is the moonshot—catching that silent killer early with molecular techniques.” 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

Illumina has just made a bold move into proteomics.In this episode of Mendelspod, Krishna Morampudi, Associate Director for Product Management at Illumina, joins Theral to talk about the company’s recent definitive agreement to acquire SomaLogic and the new launch of Illumina Protein Prep, their new end-to-end proteomics solution.0:00 On the acquisition of SomaLogic4:30 Scoop: Illuminated Protein Prep just launched8:00 Competitive edge14:15 The larger multi-omics visionIllumina’s new product can screen for 9,500 proteins using SomaLogic’s SOMAmer technology, with sequencing on NovaSeq and data processed through Illumina’s existing connected analysis platforms. According to Morampudi, the integration with Illumina’s NGS workflows gives researchers a competitive edge and lowers the barrier to proteomics adoption.The product has already launched with early access customers, including large biobank studies such as UK Biobank through partnerships with Decode Genetics. Krishna notes that “the motivation to buy the company was really coming from working with those early access customers.”With a vision to make large-scale quantitative proteomics standard in discovery research, Illumina is betting that SomaLogic’s scalable, high-throughput tech can eventually outpace long-established competitors.“We’re starting with 9,500 proteins with lower CVs than Olink. Our ability to scale faster to the entire native proteome gives us a real advantage,” Morampudi says.In the final segment, Morampudi connects the proteomics launch with Illumina’s broader multi-omics vision and outlines the potential for new biomarker discovery, PQTL analysis, and phenotypic insights. 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.comOn today’s debut interview with Truvian Health, CEO Jay Srinivasan lays out the company’s bold but grounded plan to radically decentralize blood testing. With over $150 million raised and a benchtop instrument already in FDA review, Truvian aims to run 34 lab-quality tests from just eight drops of blood—in under 30 minutes.“Why does your blood have to t…

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