Mendelspod Podcast

What if the next leap in human health isn’t hidden in our genes, but in everything that happens to them? In this week’s truly groundbreaking Mendelspod episode, we open a new chapter for the show: our first deep dive into exposomics—the study of all the physical, chemical, biological, and social exposures that shape the human body across a lifetime.To guide us, we welcomed two leaders at the center of this emerging field: Chirag Patel of Harvard and Gary Miller of Columbia University, fresh off organizing Genomics Meets Exposomics, a landmark meeting held at the Mendel Museum in Brno—the birthplace of modern genetics. In the same abbey where Mendel tended pea plants, genomics and exposomics researchers from Europe and the U.S. gathered for the first time to build a shared roadmap for understanding how genes and environment interact to drive disease.In our conversation, Chirag and Gary explain why the genome alone can’t answer the biggest questions in human health. While genomics accounts for roughly 20% of complex disease risk, the remaining 80% lies in our exposures—pollutants, diet, geography, stress, microbes, medications, and more—and the fingerprints these exposures leave on our biology. Exposomics, as Gary notes, is about moving from studying one factor at a time to systematically measuring the thousands of signals that accumulate in our tissues and blood.A major theme of the discussion—and the inspiration for our episode title—is Chirag Patel’s call for exposomics to follow the same playbook that transformed genomics in the early 2000s. Just as genome-wide association studies (GWAS) revolutionized how we identify genetic contributors to disease by moving beyond one-gene-at-a-time thinking, Patel argues that the field now needs exposome-wide association studies (EWAS) to systematically search for environmental drivers. “If we are to do an exposome-wide association study… we can now discover things that were missing,” he explains, shifting from narrow, candidate-factor approaches to broad, data-driven discovery.Both guests describe a field gaining momentum thanks to better measurement technologies, large biobanks, geospatial data, and new analytic frameworks inspired by genome-wide association studies. They also speak frankly about the remaining hurdles. As Chirag puts it, one of the major challenges is not just correlating exposures with disease but determining what these findings mean for people: “There’s a number of questions that come after that…how do you modify it? Is it causal? How do we remove it from the population if it’s adverse?”Gary, who has spent decades studying Parkinson’s and Alzheimer’s, explains how high-resolution mass spectrometry now allows researchers to see exposure signals that were invisible before—sometimes even in decades-old blood samples. And looking ahead, he offers a clear note of optimism about exposomics’ readiness for scale: “We can do this now. It’s a reality.”For long-time Mendelspod listeners, the episode marks an inflection point. After fifteen years covering genomics and the multi-omic revolution, this conversation shines a light on the other half of human biology—the environment—and what may become the next major frontier in disease prevention, drug development, and precision health. 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

After more than a decade of success in research, long-read sequencing is more and more adopted into clinical testing. In today’s show, we speak with Rita Shaknovich, Chief Medical Officer at Agilent Technologies, and Sarah Kingan, Associate Director of DNA Applications at Pacific Biosciences (PacBio), about how their collaboration is speeding up this long-anticipated transition.* 0:00 Long read sequencing changing clinical landscape* 7:00 Long reads replacing older technologies* 13:15 Agilent/PacBio partnership – speeding up adoption* 16:00 Panels designed for short reads can be used for long reads* 24:25 Democratizing accessLong-read sequencing—once prized mainly by researchers for its ability to resolve structural variants, repeat expansions, and complex genomic regions—has reached a point of technical and economic maturity that now makes it viable in the clinical setting. “We can now see regions of the genome that were long considered dark matter,” says Shakhnovich. “That’s leading to improved diagnostic yield and, most importantly, better outcomes for patients.”Agilent brings to this collaboration a long-standing foothold in laboratory testing. Its automated platforms and target enrichment chemistries are already embedded in many diagnostic laboratories worldwide. PacBio, of course, brings the power of HiFi long-read sequencing to the table. Together, the companies are demonstrating that technologies originally designed for short-read sequencing can be seamlessly adapted to long-read workflows. “Panels that were designed for short reads can be used for long reads—essentially right out of the box,” explains Kingan. “It really just opens up a whole world of clinical applications immediately.”By combining Agilent’s infrastructure and expertise with PacBio’s long-read innovation, the partnership is accelerating the integration of comprehensive, single-platform sequencing into patient testing. The result is a streamlined, cost-effective approach that reduces the need for multiple assays while providing richer genomic insight. 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

What used to take months of bioinformatics analysis can now happen in minutes—and with greater biological insight than ever before. In this episode, Theral Timpson sits down with Vivek Adarsh, co-founder and CEO of Mithrl, an “AI science” company that’s bringing the power of vertical AI to the lab bench.Adarsh began his career at Nvidia, long before the company became synonymous with AI. “What I learned there,” he recalls, “was that when you build a team around exceptional talent, deep passion, and empathy—especially empathy for your customers—everything else flows from that.” That lesson guides how Mithrl now builds tools for scientists drowning in data.At the heart of Mithrl is a platform that takes scientists from raw data to biological insight in minutes, complete with automatic data cleaning, literature integration, and a conversational interface. Adarsh describes how one pharma team identified new biomarkers in 15 minutes—a process that would normally take months—and how another user avoided a costly error when Mithrl’s reasoning layer caught an incorrectly labeled sample.Asked about the risk of losing “happy accidents” in a world of faster science, Adarsh pushed back:“AI doesn’t eliminate the happy accident—it multiplies the opportunities for it. You can’t control luck, but you can create the conditions for it to appear more often.”In closing, he offered a glimpse of what drives him:“If we can accelerate the path from raw data to real discovery—from sequencing files to the next therapy—then we’ve done something far bigger than building software. We’ve built a partner for science itself.” 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

The biggest story in sequencing this year lives up to the hype. Mark Kokoris, head of SBX sequencing at Roche and inventor of the technology, joins Mendelspod to talk about how Sequencing by Expansion (SBX) works and why it may redefine the limits of genomics.* 0:00 A long journey inspired by PCR* 7:20 What is sequencing by expansion?* 14:00 On scale and accuracy* 19:40 Multi-omics vision?* 24:40 What will be the killer app?* 30:00 Biggest challenge for launchKokoris recounts the long path from co-founding Stratos Genomics in 2007 to Roche’s acquisition in 2020, when his team’s “wildly ambitious chemistry” finally found its match in Genia’s high-density nanopore platform. “Our approach to efficiently sequencing DNA,” he explains, “is to not sequence DNA. We rescale the problem—expand the molecule about 50-fold—so we can read it with much higher signal-to-noise.”The result is astonishing speed. Working with the Broad Institute and Boston Children’s Hospital, SBX delivered whole-genome results in under four hours, with the sequencing step itself taking only about 15 minutes. Kokoris attributes the achievement to a confluence of chemistry and compute.SBX’s duplex mode achieves Illumina-level accuracy (F1 > 99.8 %) while maintaining single-molecule simplicity. Its tunable flexibility lets small labs run a handful of samples in hours or large centers run thousands per day. Kokoris describes it as a technology built on impatience and rule-breaking, designed to give scientists options they’ve never had.Looking ahead to the 2026 research-use launch, he’s characteristically bold:“For me, success means SBX becoming the new standard in sequencing. Innovation can’t stop—it has to keep evolving, because biology is complex and we’ve got a lot more to do.” 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

What company began as a sake manufacturer over a century ago and went on to launch the world’s first single-cell kit in 2011? It’s Takara Bio—and their story is far from finished.In this episode, we talk with Dr. Andrew Farmer, Chief Scientific Officer and Head of R&D at Takara Bio USA, about the company’s remarkable evolution from a Japanese enzyme maker to a global innovator in single-cell and spatial biology. Farmer recalls, “We go way, way back to being a sake manufacturer a hundred years ago. And it’s through that business—realizing that sake is basically fermentation—that we could use that to do other interesting things in biology.”* 0:00 Began as a sake manufacturer over 100 years ago* 5:25 First kit for single-cell sequencing* 11:10 Bought Curio Bioscience to bring in spatial omics* 15:00 Returning to the level of the cell* 26:40 The new “T-cell sponge”He describes how Takara Bio introduced the first commercial single-cell reagent kit long before the current explosion of single-cell technologies: “The first single-cell reagent kit on the market was actually from us. That was in 2011, and even the Fluidigm C1 system was driven by our chemistry.”The conversation then moves through Takara’s acquisition of Curio Bioscience, adding the Trekker and Seeker spatial platforms, which—remarkably—require no specialized instruments. Farmer explains how this simplicity could democratize access to spatial data and accelerate multiomic studies in cancer and drug discovery.And for an ending twist, he introduces the “T-cell Sponge,” a porous hydrogel matrix that activates and transduces T cells in a single step—an innovation recently named one of The Scientist’s Top Innovations of 2025. 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

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