Episode 272: Genomics for Rare Diseases With Katherine Stueland

Chadi sits down with Dr. William “Bill” Small, Jr., a nationally recognized radiation oncologist and cancer center director at Loyola University Chicago, to explore the evolution of radiation oncology from its historical foundations to its rapidly advancing future. They discuss cutting-edge developments including proton therapy, radiopharmaceuticals, and the growing integration of molecular tumor profiling with precision radiation techniques, as well as the field’s increasing collaboration with medical oncology. Dr. Small also shares insights on mentoring the next generation of researchers, expanding clinical trials in radiation oncology, and addressing critical challenges such as overtreatment while shaping the future of the discipline.Check out Chadi’s website for all Healthcare Unfiltered episodes and other content. https://www.chadinabhan.com/Watch all Healthcare Unfiltered episodes on YouTube. https://www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA

Chadi sits down with Katherine Stueland, President and CEO of GeneDx, to explore how genomic sequencing is transforming the diagnosis of rare diseases—especially for pediatric patients who often endure years searching for answers. She discusses the company’s work analyzing the full genome to uncover gene–disease correlations, its efforts to bring advanced genetic testing directly into pediatricians’ offices through education and access initiatives, and how its massive rare-disease dataset is helping clinicians deliver faster, more precise diagnoses. The conversation also looks ahead to the expanding role of genomics in adult conditions such as neurodegenerative diseases, the potential of partnerships with biopharma, and how AI-driven analysis of large genomic datasets is accelerating discovery and precision medicine.Check out Chadi’s website for all Healthcare Unfiltered episodes and other content. https://www.chadinabhan.com/Watch all Healthcare Unfiltered episodes on YouTube. https://www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA

Chadi sits down with Dr. Sylvia Owusu-Ansah, a pediatric emergency physician at UPMC, to discuss her role as a medical advisor for the HBO Max series “The Pitt” and how she helped bring real-world authenticity to the show. She explains how the writers first approached her and asked a key question—what stories have not yet been told on medical dramas—which led her to highlight issues such as the challenges of sickle-cell pain management and share the powerful real-life story of a 17-year-old patient that ultimately inspired a storyline in the series. Dr. Owusu-Ansah also reflects on how her own experiences, including those as a Black physician in emergency medicine, informed the perspectives she brought to the writers’ room, and she discusses what “The Pitt” portrays most accurately about life in the ER and how the show differs from traditional medical dramas in its approach to realism.Read more about Dr. Owusu-Ansah’s inspiration for “The Pitt.”https://www.health.pitt.edu/news/pitt-doctor-sylvia-owusu-ansahs-story-influenced-upcoming-series-pittCheck out Chadi’s website for all Healthcare Unfiltered episodes and other content. https://www.chadinabhan.com/Watch all Healthcare Unfiltered episodes on YouTube. https://www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA

Chadi sits down with Misty Shields, MD, PhD, Assistant Professor of Clinical Medicine in the Division of Hematology/Oncology at Indiana University School of Medicine, to explore the evolving translational research landscape in small cell lung cancer. Together, they discuss the pivotal shift in how small cell lung cancer is biologically classified, the modern roles of prophylactic cranial irradiation and immunotherapy, and how these approaches are being refined through ongoing research. Dr. Shields also highlights the importance of next-generation sequencing, biomarker development, and the exciting compound combinations under investigation—offering a compelling look at how today’s lab discoveries are shaping tomorrow’s clinical breakthroughs.Check out Chadi’s website for all Healthcare Unfiltered episodes and other content. https://www.chadinabhan.com/Watch all Healthcare Unfiltered episodes on YouTube. https://www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA

Chadi sits down with award-winning legal scholar Elizabeth (Beth) Chamblee Burch to explore “The Pain Brokers: How Con Men, Call Centers, and Rogue Doctors Fuel America’s Lawsuit Factory,” her deeply reported investigation into a multilevel scam involving a pelvic mesh product that preyed on vulnerable patients and exploited mass tort litigation. Together, they discuss how she uncovered her sources and evidence, the harrowing stories of the women caught up in this web of telemarketing, shady medical referrals, and legal profiteering, and what the fallout reveals about the broader tort law system.Read more about The Pain Brokers.https://www.simonandschuster.com/books/The-Pain-Brokers/Elizabeth-Chamblee-Burch/9781668068861Check out Chadi’s website for all Healthcare Unfiltered episodes and other content. https://www.chadinabhan.com/Watch all Healthcare Unfiltered episodes on YouTube. https://www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA

Paolo Tarantino, MD, PhD, medical oncologist at Dana-Farber Cancer Institute, joins Chadi for a deep dive into the rapidly evolving world of antibody-drug conjugates (ADCs)—sometimes dubbed “super-chemotherapies.” He traces the fascinating origins of the ADC concept, including a centuries-old scientific insight that foreshadowed their development, and explains the biology behind how these targeted therapies deliver potent cytotoxics directly to cancer cells across tumor types. Dr. Tarantino also reflects on launching his career alongside the infancy of modern ADCs, explores innovations like multi-payload constructs, and weighs in on whether ADCs could ultimately replace conventional chemotherapy as research continues to push the field forward.Check out Chadi’s website for all Healthcare Unfiltered episodes and other content. https://www.chadinabhan.com/Watch all Healthcare Unfiltered episodes on YouTube. https://www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA

Chadi sits down with Nora Disis, MD—Editor in Chief of JAMA Oncology and professor at Fred Hutchinson Cancer Center—for a candid, wide-ranging discussion on the modern state of peer review and medical publishing. Dr. Disis reflects on the founding of JAMA Oncology and her role as its inaugural Editor in Chief, then pulls back the curtain on what actually happens when a manuscript is submitted (yes, she reads every one), how impact factors shape—and sometimes distort—the field, and what truly defines a high-quality peer reviewer. From the promises and pitfalls of AI to the pressures facing academic publishing today, this is a raw, thoughtful, and at times critical look at how medical evidence gets vetted and shared with the world.Check out Chadi’s website for all Healthcare Unfiltered episodes and other content. https://www.chadinabhan.com/Watch all Healthcare Unfiltered episodes on YouTube. https://www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA

Award-winning stem cell transplant pioneer, Dr. Richard Burt, discusses his book “Kill Switch: The History of How Viruses Shaped Humanity and Led to COVID-19,” guiding listeners through the deep, often surprising role viruses like smallpox, polio, HIV, and COVID-19 have played in shaping human civilization and global health responses. With factual clarity and a historian’s eye, Dr. Burt explains the development of scientific understanding and vaccines without political agenda, offering historical perspective that sheds light on the ups and downs of vaccine innovation and what we can learn from the COVID-19 era.Find out more about the book.https://store.poisonedpen.com/item/Oz7LbGTIpIiC-va1OfEOpQCheck out Chadi’s website for all Healthcare Unfiltered episodes and other content. https://www.chadinabhan.com/Watch all Healthcare Unfiltered episodes on YouTube. https://www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA

Drs. Shaalan Beg, Shruti Patel, and Emil Lou—the “Only Oncologists in the Building”—offer an in-depth, clinically focused review of the most important research presented at the ASCO GI Annual Meeting. The conversation spans the rising incidence and outcomes of early-onset colorectal cancer, survivorship considerations, and a nuanced discussion of ctDNA in the adjuvant setting for high-risk stage II disease, including whether its role has evolved from purely prognostic to truly predictive. They also critically analyze practice-defining trials such as BREAKWATER in BRAF V600E–mutated metastatic colorectal cancer, COMMIT in dMMR/MSI-H disease, upper GI studies including HORIZON-GEA-01, MATTERHORN, and ILUSTRO, along with meaningful updates in pancreatic and hepatobiliary cancers—ultimately weighing which data should influence clinical practice today versus what remains on the horizon.View content from “The Only Oncologists In the Building.”https://www.youtube.com/@OnlyOncs/videosCheck out Chadi’s website for all Healthcare Unfiltered episodes and other content. https://www.chadinabhan.com/Watch all Healthcare Unfiltered episodes on YouTube. https://www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA

In this cross-collaboration episode, Drs. Sam Armstrong and Karine Tawagi—hosts of the “Two Onc Docs” podcast—join the show to share their personal journeys into oncology and the inspiration behind launching a podcast for the oncology community. The conversation then expands into a candid, practical discussion of oncology career paths, offering fellows and early-career physicians real-world guidance on choosing a first job, negotiating contracts and compensation, evaluating mentorship, and balancing professional goals with life outside of medicine. From academic practice to alternative stakeholder roles, this honest dialogue unpacks the many decisions that shape a sustainable and fulfilling career in medicine.Listen to “Two Onc Doc” episodes.https://podcasts.apple.com/us/podcast/two-onc-docs/id1616541733Check out Chadi’s website for all Healthcare Unfiltered episodes and other content. www.chadinabhan.com/Watch all Healthcare Unfiltered episodes on YouTube. www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA