Dr. Stephen Kingsmore on Scaling Whole Genome Sequencing for Uncovering Genetic Defects in Infants

Advances in molecular diagnostics are reshaping how cancer is detected, monitored, and treated, and liquid biopsy is becoming central to that progress. This simple blood draw can reveal key tumor biology at diagnosis and over time, providing timely insight and guiding more precise decisions throughout a patient’s journey. Clinicians now face an important challenge: knowing what is actionable today and what is coming next so more patients can benefit from the promise of these advances.As we kick off Season 7, host and patient advocate Karan Cushman expands this season’s focus on Bringing Precision Medicine to Everyone with a deeper look inside the science of liquid biopsy. The conversation features two leaders shaping the field: Dr. Christian Rolfo, Division Director of Medical Oncology at The James Comprehensive Cancer Center at Ohio State University, and Dr. Roberto Borea, Medical Oncologist and emerging investigator from the Rolfo Lab.Together, they break down the scientific momentum driving liquid biopsy forward, including tumor fraction, MRD-guided treatment strategies, resistance monitoring, fragmentomics, and the expanding frontier of early detection. They also discuss the barriers that continue to slow broader adoption, such as assay variability, limited standardization, reimbursement gaps, and operational challenges in community settings.In this episode, we cover:• How tumor fraction is emerging as a meaningful real-time biomarker• Where MRD-driven escalation and de-escalation strategies are heading• The current promise and limitations of early detection and MCED testing• What is required to standardize liquid biopsy across reporting, workflows, and clinical trialsEpisode 70 offers a clear look at the advances researchers are helping drive right now and what these developments could mean for clinicians, laboratories, and patients in the near future.This conversation builds on episode 69 with Dr. Kashyap Patel, who introduced the foundations of liquid biopsy and its role in accelerating treatment decisions. Combined, these two episodes offer clinicians and patients an overview of where the science and real-world applications stand now and where the field is headed next.

Liquid biopsy is breaking speed and access barriers in precision oncology. In this episode of the Precision Medicine Podcast, part of our series Bringing Precision Medicine to Everyone and the first in a two-part focus, founder and host Karan Cushman speaks with Dr. Kashyap Patel, CEO of Carolina Blood and Cancer Care Associates, author, and national leader in value-based oncology.Together, they explore how liquid biopsy is changing the diagnostic and treatment landscape. This blood-based test can deliver results in days, be repeated as needed, and reduce the need for invasive procedures. Tissue biopsy remains important, but when the samples are too small or unsuitable for testing, liquid biopsy provides a valuable alternative in guiding treatment decisions and monitoring disease.For patients with aggressive “turbo cancers” such as diffuse large B-cell lymphoma or small cell lung cancer, the time saved can be lifesaving. Karan shares her own experience with DLBCL, while Dr. Patel highlights real-world cases where liquid biopsy revealed actionable mutations, informed therapy, or enabled minimal residual disease (MRD) monitoring.Finally, Dr. Patel underscores the need for standardization and payer alignment to move liquid biopsy from innovation to everyday practice. This candid discussion frames liquid biopsy not as a futuristic idea, but as a clinically powerful and scalable tool that is closing gaps in precision oncology today.

What does it really mean to bring precision medicine to every patient, in every community?In this inspiring, one-hour episode of the Precision Medicine Podcast, host Karan Cushman sits down with Dr. Arif Kamal, Chief Patient Officer at the American Cancer Society (ACS), for a wide-ranging conversation that reframes how we think about progress in cancer care. With a background in oncology, palliative care and health system innovation—and a personal story shaped by his mother’s metastatic breast cancer diagnosis—Dr. Kamal offers a deeply human perspective on what it means to deliver not just the right treatment, but the right experience for every patient.Dr. Kamal shares how the ACS is working to make precision medicine more equitable by addressing barriers like geography, affordability, clinician burnout, and fragmented care. He explains the importance of “precision compassion”—the idea that personalized care must also include empathy, listening, and action tailored to the needs of each individual. “We can’t talk about innovation,” he says, “without talking about accessibility.”From the importance of whole-person care and mobile health units in rural communities, to expanding insurance coverage for biomarker testing and building trust with patients and caregivers, this conversation is full of insight into what it will truly take to change the odds for people facing cancer.You’ll also hear about the ACS’s bold initiatives:The Change the Odds campaign, tackling ZIP code-driven disparities in careACS CAN’s legislative efforts to expand access to biomarker testingHow the ACS’s roundtables and grassroots partnerships support health systems, clinicians, and researchers nationwideDr. Kamal challenges us to think beyond science alone and focus on what really matters to patients—whether that’s more time, better quality of life or simply the ability to hold a grandchild on the beach.Don’t miss this conversation about how we turn precision medicine from a possibility into a promise—one rooted in empathy, equity and action.Subscribe here to catch every episode in the series "Bringing Precision Medicine to Everyone." Next, we explore the evolving world of liquid biopsy and its role in expanding access to early cancer detection and precision treatment.

When patients understand their inherited risk for cancer, they’re empowered to take action—often before cancer has a chance to take hold.In this second episode of our Bringing Precision Medicine to Every Patient series, host Karan Cushman is joined by two trusted experts, Ellen Matloff and Dr. Angella Charnot-Katsikas. Together, they provide clear, practical guidance on how patients and clinicians can identify inherited cancer risk early—and take steps to address it.Whether you’re a patient wondering where to begin, or a provider navigating limited time and resources, this episode delivers clear takeaways to help you move from uncertainty to informed action.It’s a timely reminder that precision medicine doesn’t begin with treatment—it begins with knowledge. And with the right tools and support, patients can take control of their health and rewrite the story for generations to come. (Be sure to subscribe here so you don't miss an episode in this important series!)Ellen Matloff is a nationally recognized genetic counselor, founder and CEO of My Gene Counsel, and a leading voice in digital health and patient-centered genomics. She founded and led the Yale Cancer Genetic Counseling Program and was a plaintiff in the landmark Supreme Court case that overturned gene patenting.Dr. Angella Charnot-Katsikas is Chief Medical Officer at Palmetto GBA and a molecular diagnostics expert who helps guide coverage decisions through her work in precision medicine policy.They share compelling stories that bring the science to life. Ellen reflects on one of her first BRCA1-positive patients—a healthy young mother who chose preventive surgery based on a powerful family history of cancer and a determination to break the cycle. Dr. Katsikas offers her own experience as both a pre-vivor and survivor, whose early diagnosis was only possible because of proactive testing and screening guided by her family history.The episode also explains why many patients still miss these opportunities—due to limited awareness, inconsistent risk assessments, and systemic barriers in access. The guests highlight the limitations of consumer tests like 23andMe and the critical role of genetic counselors in interpreting results and guiding decisions.They offer actionable strategies for integrating family history collection and risk assessment into routine care, including the use of digital tools in busy or resource-limited settings. Reimbursement challenges are discussed, alongside encouraging progress toward making precision medicine standard of care.Special thanks to our good friend Dr. Kashyap Patel and the No One Left Alone initiative forcollaborating with us on this series. Our goal with Bringing Precision Medicine to Everyone is to equip patients, caregivers and care teams with the knowledge and tools needed to deliver the best of modern cancer care–no matter where a patient lives.

In Episode 66 of the Precision Medicine Podcast, host Karan Cushman kicks off a vital new series, Bringing Precision Medicine to Everyone in collaboration with Dr. Kashyap Patel, a nationally respected community oncologist and founder of the No One Left Alone initiative. This series explores what it takes to close the gap between innovation and access in precision cancer care—especially in community and rural settings where disparities remain greatest.Dr. Patel, a long-time advocate for equitable oncology care, shares the real-world barriers patients face—from gaps in provider awareness to financial constraints and restrictive payer policies—and how his organization is actively working to address them. He also offers powerful patient stories that highlight the life-saving potential of timely biomarker testing and personalized therapies.Joining the conversation is Dr. Angella Charnot-Katsikas, a molecular pathologist, policy leader at Palmetto GBA, and breast cancer survivor, who brings a unique perspective from both the clinical and payer sides. She emphasizes the importance of collaboration across care teams, the need for rapid diagnostic turnaround, and the urgency of keeping pace with evolving clinical guidelines.Together, the guests affirm that precision medicine is the standard of care—but for too many, it’s still not the reality. This episode lays the foundation for a transformative series focused on dismantling systemic barriers and ensuring every patient—regardless of their zip code—can benefit from the best of modern cancer care.

In this episode of the Precision Medicine Podcast, host Karan Cushman engages in a thought-provoking discussion with two pioneers in AI-driven oncology: Dr. Douglas Flora and Dr. Sanjay Juneja. Together, they explore how AI is revolutionizing cancer care, from earlier detection and faster diagnoses to personalized treatments and clinical trial optimization.AI’s potential in oncology is game-changing. Dr. Flora and Dr. Juneja break down how AI is helping to identify cancer at its earliest, most treatable stages, automate biomarker testing, and streamline clinical trials to match patients with the best therapies faster than ever before. AI is not just a futuristic concept—it is already helping oncologists reduce misdiagnoses, improve screening accuracy, and speed up treatment approvals, all of which could significantly improve patient outcomes.But if AI is so transformative, why isn’t it more widely used? Adoption remains one of the biggest hurdles, with challenges ranging from regulatory barriers and insurance limitations to the slow integration of AI into clinical practice. Karan challenges her guests to explain what needs to change for AI-driven precision medicine to reach more patients—sooner rather than later.With her patient-first perspective, Karan ensures the conversation stays focused on what these advancements mean for real people. Looking ahead to 2030, the discussion explores what a fully AI-integrated oncology system could look like—and why the revolution in cancer care isn’t coming—it’s already here.Dr. Douglas Flora is the Executive Medical Director of Oncology Services at St. Elizabeth Healthcare, and Dr. Sanjay Juneja is a hematologist-oncologist, social media educator, and VP of Clinical AI Operations at Tempus AI. Both guests are co-founders of Tensor Black, an education and consulting company specializing in AI applications in oncology.

In this two-part episode of the Precision Medicine Podcast, host Karan Cushman continues her deep dive into prostate cancer care with expert guest Dr. William Oh, a leading genitourinary oncologist, Director of Precision Medicine at Yale Cancer Center and Chair of the American Cancer Society National Prostate Cancer Roundtable. Building on part one (episode 63), they explore the transformative role of precision medicine, advanced diagnostics, and targeted therapies—emphasizing the urgent need for greater awareness, understanding, and advocacy as prostate cancer continues to rise steadily. Karan opens the conversation by emphasizing the growing complexity of prostate cancer diagnostics and treatment. Dr. Oh discusses the wide array of diagnostic tools, from PSA tests and MRIs to the cutting-edge PSMA PET scan, which has revolutionized staging and treatment planning by providing detailed insights into cancer spread. He highlights how these tools are helping oncologists tailor treatment plans with unprecedented precision. The discussion shifts to molecular diagnostics, a burgeoning field that provides critical information about the aggressiveness of cancer. Dr. Oh explains how molecular tests, such as genomic profiling, are enabling personalized treatment decisions for prostate cancer patients, particularly those on the fence about options like surgery, radiation, or active surveillance. Karan and Dr. Oh also address disparities in access to these advanced diagnostics, underlining the need for wider implementation. Karan steers the conversation toward advancements in targeted therapies. Dr. Oh outlines breakthroughs in precision treatments, including PARP inhibitors for patients with BRCA mutations and the innovative LU-177-PSMA therapy, a “smart bomb” approach that targets cancer cells with remarkable specificity. He also explores the promise of immunotherapy, though he acknowledges its limited applicability for prostate cancer due to the disease’s low mutational burden. The role of artificial intelligence in precision oncology is another key topic. Dr. Oh and Karan discuss how AI and machine learning are helping clinicians process complex data, from imaging to genomic profiles, to guide more informed treatment decisions. Dr. Oh envisions AI as an essential tool for streamlining oncology workflows while preserving the human connection between doctors and patients. Karan highlights the importance of effective communication in prostate cancer care, referencing a recent editorial co-authored by Dr. Oh. Together, they explore the need for more patient-centered terminology, such as replacing the term “castration-resistant prostate cancer” with “androgen deprivation-resistant prostate cancer,” to foster better understanding and improve patient experience. The episode concludes with a forward-looking discussion on clinical trials, the integration of new technologies like liquid biopsies, and the ongoing efforts to expand insurance coverage for biomarker testing. Dr. Oh emphasizes the critical role of collaboration, awareness, and education in advancing precision medicine and ensuring that patients benefit from the latest innovations. With Karan’s thoughtful questions and Dr. Oh’s expertise, this episode offers a comprehensive and accessible exploration of how precision medicine is reshaping the future of prostate cancer care. We hope you’ll tune in to the series and share this important episode with others!

In part one of a two-part series on prostate cancer, the Precision Medicine Podcast addresses critical challenges as well as new advancements in prostate cancer, the second leading cause of cancer-related deaths in men. Host, Karan Cushman, is joined by Dr. William Oh, Director of Precision Medicine at Yale Cancer Center and Chair of the American Cancer Society National Prostate Cancer Roundtable. Together, they shed light on the complexities of prostate cancer and how early screening can address rising incidence rates and persistent disparities, particularly among African American men. Subscribe to get Part 2 delivered straight to your inbox.Prostate cancer currently affects one in eight men in the US, with African American men facing a one-in-six risk and 70% higher incidence rate than White men. These disparities extend to earlier onset and more aggressive disease presentations. Globally, the disease is the most frequently diagnosed cancer in 112 countries and a leading cause of cancer-related deaths in 48 countries. The incidence of prostate cancer has been rising steadily. There has been a 3% annual increase in cases and a 5% annual rise in advanced prostate cancer diagnoses since 2014. Throughout the series, Dr. Oh discusses the role precision medicine can play in addressing these trends by tailoring prevention, diagnosis and treatment strategies to individual patient profiles. Karan and Dr. Oh begin the conversation by highlighting critical advances in prostate cancer care, including the development of over a dozen FDA-approved drugs in recent decades. Listeners will learn of the systemic barriers that often prevent men from accessing these treatments, resulting in just half of men with advanced prostate cancer receiving standard-of-care therapies—a fact that underscores the need to improve access and equity in treatment. Dr. Oh chairs the American Cancer Society National Prostate Cancer Roundtable, which aims to address these gaps by uniting diverse stakeholders—from patient advocacy groups to scientific organizations—to improve outcomes through collaborative efforts. The discussion also explores the role of environmental and epigenetic factors in prostate cancer risk. Dr. Oh discusses how stress, socioeconomic disparities, and toxic exposures, such as those experienced by 9/11 first responders, may alter DNA and increase cancer risk. He compares these findings to the higher incidence of prostate cancer among African American men who live in environments that exacerbate health disparities. Dr. Oh emphasizes the importance of identifying and mitigating these risks to improve outcomes. Screening is a key topic throughout the conversation, and Dr. Oh discusses the challenges of early detection and the controversies surrounding PSA (prostate-specific antigen) screening. While current guidelines recommend baseline PSA testing for most men between the ages of 50 to 55, new evidence supports earlier screening for high-risk populations, particularly African American men who should begin testing between ages 40 and 45. This shift toward earlier detection is critical for addressing aggressive cancers before they progress to advanced stages. Dr. Oh goes on to explain the importance of genetic testing, which reveals up to 10% of advanced prostate cancer cases involve BRCA or other DNA repair mutations. Recognizing these mutations early can inform targeted treatments like PARP inhibitors, yet Dr. Oh notes that many patients are not tested, underscoring the need for better implementation of precision diagnostics. By linking genetic data to clinical outcomes, precision medicine can help tailor treatments to the unique needs of each patient. The episode concludes with a call to action for improved education and collaboration. Dr. Oh emphasizes the need for patients to discuss family history and risk factors with their doctors and for primary care physicians to prioritize early conversations about prostate health. He advocates for a comprehensive approach that combines education, technology and multidisciplinary care to close gaps in prostate cancer treatment and ensure that advances in precision medicine benefit all populations, especially those at highest risk. Stay tuned for Part 2 with Dr. Oh coming out in late December 2024.

New Legislation Helps Deliver Appropriate Biomarker Testing to More Cancer Patients When and Where They Need It Currently, there is a significant divide between the promise of precision medicine and how equitably new innovations are applied to each cancer patient’s treatment journey. Our expert guests Hilary Gee Goeckner (Director of State and Local Campaigns for the American Cancer Society's Cancer Action Network), and Kristine Ashcraft (founder and President of YouScript, and member of ACS CAN task force) are actively working to close that gap. They are champions of the ASC CAN effort to pass legislation across the US to expand insurance coverage of evidence-based biomarker testing for cancer patients. In this episode of the Precision Medicine Podcast, they explain why it’s so important.Because biomarker testing is a complex topic, host Karan Cushman kicks off the episode by asking our guests to define the different types and their respective benefits. Hilary begins by explaining genetic testing and how results offer a view into someone’s risk for developing cancer. She continues through diagnostic biomarker testing which can help match patients with the right treatments. Kristine then introduces pharmacogenomic/pharmocogenetic testing which looks at the genetic variability of how patients respond to drugs. It's clear that testing offers a wide range of benefits and having biomarker test results upfront can support clinicians in making more precise treatment decisions as well as modifications to drug selections and dosing based on a patient’s individual profile. But our guests remind us that many underserved patients are less likely to receive guideline-indicated biomarker testing for a variety of reasons. Tune in to the full episode for more!

Welcome to Part 2 of a two-part colorectal cancer (CRC) awareness series featuring guest Trevor Maxwell, Founder and CEO of Man Up to Cancer, a non-profit that inspires men to connect and avoid isolation during their cancer journeys. Trevor shares what he’s learned since being diagnosed with stage 4 CRC six years ago, the darkness he faced from mental health struggles and how he ultimately decided to Man Up to Cancer himself.​Precision medicine (i.e. “personalized” medicine) is predicated on the idea that treating the whole person leads to better outcomes. Trevor’s story is evidence as host Karan Cushman takes listeners through his journey with cancer beginning with the less-than-obvious signs that led to his diagnosis at age 41.As husband to his wife, Sarah, and father to two young daughters, Sage and Elsie, Trevor now realizes he has a lot to live for, but in the initial months after he was diagnosed he couldn’t see beyond the devasting news. He says he felt like an outlier—as if all other men with cancer were somehow shouldering the burden without help while he struggled. He later realized that many, many men felt the same way he did, and they were less likely to be accessing support resources than women. Trevor says, “I just realized that something needed to be done for those guys like me who maybe don’t want to participate in a co-ed environment, and maybe if we give them something, maybe if we build something for them where it’s by men going through cancer, for men going through cancer, maybe they’ll open up.” This realization led Trevor to launch Man Up to Cancer. He says, “People who isolate going through cancer have worse medical outcomes, number one, and worse problems with mental health.” He created his non-profit to address those issues head on.Trevor notes that treating the whole person, not just the cancer, can save lives, but men first need to learn to ask for help. This whole-person approach is very much in line with the idea behind precision medicine today in that understanding ourselves and how we operate can optimize our treatment paths. As Trevor says, “For me, mental health was just as important as my physical health going through this [colorectal cancer]. For so many others, it’s the same.” If you’re living with cancer or supporting someone through their journey with cancer, please tune in to Part 2 of our incredibly candid and insightful conversation with Trevor. Not only is he truly inspiring, but he underscores how cancer patients reaching out to their communities and asking for support can sometimes literally be a matter of life or death. And don’t miss the other episodes in our CRC awareness series, which includes Part 1 with Trevor in which he discusses the critical need for better screening for CRC as well as our broader discussion with Dr. Douglas Flora, Executive Medical Director of Oncology Services at St. Elizabeth Healthcare and Editor-in-Chief of AI and Precision Oncology.Download the full transcript of the episode here (pdf).Like what you hear? Please spread the joy...Share the Precision Medicine Podcast with your friends Leave a review and subscribe in your favorite podcast app!Follow us on Twitter @PMPbyTrapeloFollow us on Linked In at TrapeloHealthInterested in sponsoring the Precision Medicine Podcast?Email our host Karan Cushman: [email protected]​Don't miss the next episode...