As 2025 begins, we are launching a new series The New Genetic Testing. To do that we’re welcoming today Dr. Ezra Cohen, Chief Medical Officer at Tempus to offer a behind-the-scenes look at how the company is transforming healthcare through cutting-edge AI. With its recent successful IPO, Tempus has firmly established itself as a leader in genomic testing and multimodal data integration and empowering providers and life sciences companies to make better decisions for patients.

"Tempus is really a tech company applying sophisticated AI to the healthcare space," explains Dr. Cohen. With tools like TempusOne, an AI-powered assistant, oncologists and other clinicians can access real-time insights, from interpreting genetic tests to exploring treatment options and clinical trials.”

Dr. Cohen highlights Tempus’ unique approach to data collection, amassing 300 petabytes of multimodal data—50 times larger than the largest public oncology database. This vast resource, paired with advanced AI, allows Tempus to provide unparalleled context for each patient.

"We’re not just saying this cancer has this gene mutated. We’re layering genetic mutations, co-mutations, expression levels, radiographs, digital pathology, and treatment outcomes to give providers a comprehensive picture," he says.

As Tempus continues to expand its offerings and impact, Dr. Cohen envisions a future where AI reshapes every aspect of healthcare, from patient interactions to drug development.

"The future is disruptive, and it's going to change incredibly fast. Fasten your seatbelts—we’re in an amazing time."

This week we welcome the innovative minds behind PredixBio, a new and groundbreaking company at the forefront of spatial biology. CEO Dusty Majumdar and co-founder Chakra Chennubhotla join us to discuss their mission to revolutionize cancer therapeutics through spatially intelligent biology. Founded in 2018 and supported by NIH grants, PredixBio focuses on unraveling the tumor microenvironment's heterogeneity using cutting-edge analytics and explainable AI. Their SpaceIQ platform integrates images and transcriptomics to predict patient responses to immunotherapy with an accuracy of over 90%.

Chakra studied under AI pioneer Geoffrey Hinton, often referred to as the "godfather" of AI. He explains the transformative potential of spatial analytics.

"Heterogeneity is not random; there is an order to it. Understanding this order allows us to uncover mechanisms hidden in the data."

Dusty highlights the company's mission, emphasizing the importance of explainability in AI for clinical trials and drug discovery.

"We don’t just provide predictions; we explain why patients respond—or don’t—to therapies. This helps redefine new targets and improves outcomes."

Join in to find out how PredxBio's new approach is setting new standards and shaping the future of spatial biology and precision medicine.

This year in a series co-produced with GenomeWeb we had an exclusive look into Illumina’s work in genomic AI with Kyle Farh, the VP and Distinguished Scientist leading the Illumina Artificial Intelligence Lab.

"We lack a way of training genomic AI as readily as you would for natural language processing,” says Farh. "There are vast amounts of data, but there are no labels, no supervision. One of the most powerful tools that we’ve found is using clues from natural selection.”

Farh says the company began the AI lab seven years ago when deep learning took off. Two of the team’s AI algorithms, PrimateAI-3D and SpliceAI, published in Cell and Nature Genetics, were among the first examples of deep learning algorithms in genomics to become widely used by clinical labs and researchers in interpreting variants of unknown significance.

What will be the long-term impact of AI on genomics?

Chapters:

0:00 First-of-kind studies to utilize AI to decode variation in humans

3:00 Training genomic AI on natural selection

9:10 What sets Illumina’s algorithms apart?

11:40 Insights of PrimateAI-3D and SpliceAI

21:40 How will AI impact genomics long term?

In this episode of Mendelspod, Theral sits down with Dr. Mohamad Takwa, co-founder and CEO of Epigenica, a Swedish startup revolutionizing epigenetic research. Epigenica is positioning itself at the forefront of this new and rapidly growing field with a mission to empower researchers through large-scale epigenetic profiling.

Coming from the field of digital pathology, Joachim Schmid has a unique perspective on the evolution of multi-omics.  Schmid was recently appointed as Vice President of Multiomics Data Solutions at Illumina.In this episode, Theral dives into the burgeoning field of multi-omics—integrating data from various omic layers such as genomics, proteomics, and transcriptomics—and the massive data challenges that come with it. Schmid discusses how sequencing costs are plummeting, leading to an explosion in multi-omics applications. Yet, with all the data being generated, biologists often lack the computational background to make sense of it.  Schmid highlights Illumina's acquisition of Partek, a company that has been developing multi-omics data analysis tools for over 30 years, and he emphasizes that empowering researchers with accessible analysis tools is crucial to advancing the field.AI is poised to play a key role in moving multi-omics forward. Schmid discusses both the opportunities and limitations of AI, noting that while AI can streamline data processing, there are still areas for improvement, particularly in developing more intuitive and user-friendly tools for biologists. He shares some exciting applications of multi-omics in personalized medicine and cancer research.

Dr. Mark Lewis is a well known GI oncologist at Intermountain Health in Salt Lake City, Utah. Gifted with a passionate communication style, he has over 93,000 Twitter followers. Next month, he will live-tweet his upcoming colonoscopy.  

In this episode, Dr. Lewis joins Theral in our ongoing series on minimal residual disease (MRD) testing, a revolutionary blood test that is helping detect residual cancer causing a paradigm shift in patient management.

Dr. Lewis belongs to a pioneering group that allows oncologists to specialize in a single cancer type. He says MRD testing has transformed his own practice, describing how this “liquid biopsy” approach, previously common in hematology, is also advancing the detection of solid tumors.

“News flash,” he says in today’s show. “We were trained a certain way.  My training ended 12 years ago, and I had fantastic training.  I did my fellowship at the Mayo Clinic.  But if I practiced now the way I was trained then, my patients would be so underserved, almost to the point of malpractice.”  

Dr. Lewis considers MRD testing a key part of his own standard of care and anticipates its broader adoption among GI oncologists. He also highlights the recent findings from the GALAXY study, which shows improved survival rates for patients utilizing MRD testing, underscoring its potential to reshape GI oncology practices in the near future.

When Bill Clinton announced the sequencing of the human genome in 2000, the New York Times ran the following headline on the front page: "Genetic Code of Human Life is Cracked By Scientists.”We’re still living up to that headline.

Ed Abrahams has led the Personalized Medicine Coalition (PMC) for twenty years. Before his retirement in December, we asked him to join us to reflect on his tenure and take stock of the field. PMC was established as a “catalyst” and organizer to bring the various stakeholders in personalized medicine together and do the human work that science and business were missing.Ed tells Theral that the political problem may be more difficult than the science. Even with the scientific breakthroughs, he says that what Biden called his Cancer Moonshot has proved more difficult than actually going to the moon!Ed traces the field’s roots back to the groundbreaking announcement of the Human Genome Project and reflects on the significant strides in personalized drug development, which now represents over a third of recent drug approvals, as well as breakthroughs and difficulties on the diagnostics side.Current challenges are regulation in the second Trump era and the persistent practice gap, but Ed ends with excitement for what’s next.The Personalized Medicine Coalition hosts its annual conference in Boston this week, Nov 13-14th.  They have just announced their new president to be Amy Nicole Nayar, formerly Vice President for U.S. Patient Advocacy & Government Affairs at Novartis Gene Therapies

In this episode, Theral delves into the groundbreaking role of microRNA as a cancer biomarker with Tim Williams, professor of clinical pathology at the University of Cambridge Veterinary School, and Paola Ulivi, a leading researcher at the Instituto Romagnolo Per Lo Studio Dei Tumori Dino Amadori (IRST) in Italy. MicroRNA, which recently garnered its discoverers a Nobel Prize, has emerged as a powerful tool for detecting and tracking cancer progression.

Williams and Ulivi share their latest research, highlighting how microRNA’s rise in cancer diagnostics parallels the evolution of fragmentomics, which analyzes cell-free and circulating tumor DNA. We explore the key differences between using RNA and DNA in biomarker development, the advancements in tools driving these discoveries, and the timeline for microRNA-based diagnostic tests to reach clinical practice.

“There’s a lot of potential,” says Ulivi, “but the challenge in translating this into clinical practice will be the standardization and normalization of the process."

Join us as we discuss the promise, obstacles, and future of microRNA in transforming how we diagnose and treat cancer.

Jacob Rubens is having quite a career.  Studying at  MIT in the Synthetic Biology Center with Professor Tim Lu, he invented gene circuits that allow engineered cells to do novel analog, digital, and hybrid computations, enabling the emerging field of “intelligent” cell therapies. In 2017, he was honored in Forbes 30 under 30 and, in 2021, in Business Insider’s list of 12 young serial entrepreneurs building the next generation of biotech. He has co-founded Kaleidoscope Biosciences, Sana Biotechnology, and the focus of today’s interview, Quotient Therapeutics.To understand what Quotient is up to, we must go back to basic biology and remember what are somatic genomics.  Germline mutations are changes to your DNA inherited from the egg and sperm cells during conception. Somatic mutations are changes to your DNA that happen after conception to cells other than the egg and sperm. These somatic mutations can lead to genetic conditions that affect your health. In truth, our bodies contain not one but trillions of divergent genomes, the sum of which we can call our “somatic genome.” Quotient Therapeutic studies this library of variant genomes that contains vastly more genetic information than we ever thought possible. In today’s show, Rubens says that the rise of somatic genomics offers a revolution in biology and that his company has a step up on those now getting excited about the field, including $100 million being invested by the NIH in this area of genomics.”This is some of the coolest science I have seen in my career,” says Rubens.   "The somatic genome is a revolutionary alternative view of what is going on in every cell.  All 30 trillion cells in our bodies have a distinct sequence of DNA. Two cells sitting next to each other may differ by thousands of base pairs.”Rubens says this new biology will lead to many new targets for drug discovery as well as biomarkers for diagnostics. How far has the company developed their platform—where are they at today?  Which disease areas are they pursuing for new drugs? Is the company itself pursuing drug development?  Join us as we explore somatic genomics in our series, “The New Biology.”

Human genomics is complex. With new, scalable tools, we are unraveling that complexity. For example, we don’t just each have one genome; we have trillions, as each cell has a unique genome. Analyzing biology at the single-cell level continues to be one of the major frontiers in research.

To learn how Single Cell Discoveries (SCD), a contract research organization in Utrecht, the Netherlands, has scaled and innovated in this field, Theral sits down with Mauro Muraro, cofounder and CEO of SCD. Muraro discusses the company's origins as a small university lab and its rapid growth due to increasing demand for single-cell and multiomic applications in biotech and pharma.

The conversation delves into the transformative potential of single-cell technologies, addressing key topics like identifying rare cell types, single-cell atlases, and the challenges of handling the enormous data generated from these analyses. Muraro explains how Single Cell Discoveries is advancing the field with cutting-edge techniques, such as spatial transcriptomics and high-throughput sequencing, to push the boundaries of biological research and drug discovery.

Why does a single cell require such a large sequencing capacity? What are the challenges in finding new higher-quality targets for pharma?  And how does SCD aim to push the boundaries of current single-cell technologies?

One of the ways SCD helps pharmaceutical companies is by stratifying tissue by cell type to better find targets that will work. Muraro tells of a client working on neurodegenerative diseases who says, "It’s like doing a clinical trial in a dish."