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The Road to Genome

NHS Genomic Medicine Service

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The Road to Genome podcast provides an exciting opportunity to journey into the fast-moving and innovative field of genomic medicine. In each episode we talk to professionals and experts involved in genomics today. We chat about their role, uncover the different – sometimes unusual – paths they’ve taken during their careers, and discuss how this rapidly developing field is changing the face of healthcare practice. And, most importantly, we gain insights into the emotional rollercoaster exper ...
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Inside the GENOME

Myriad Genetics

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Hosted by Dr. Thomas Slavin, Chief Medical Officer for Myriad Genetics, Inside the GENOME will be exploring the world of cutting-edge cancer genetics with 2-3 episodes per month. Dr. Slavin will interview those on the front lines of cancer, and those advancing the science of cancer prevention, diagnosis, and treatment. Inside the GENOME - Genetics, Oncology and Me.
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This is a podcast series called Demystifying Genetics where I, Dr Matt Burgess, Genetic Counsellor interview other genetic counsellors, people working in genetics or people affected by genetic conditions. We chat about human clinical genetics, genetic counselling, ethics, pyschosocial issues and more. To contact me, please reach out at matt at insightgenomica dot au.
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Breast Cancer Conversations

SurvivingBreastCancer.org

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Breast Cancer Conversations is a podcast produced by Survivingbreastcancer.org where we inject positivity into the very fabric of a breast cancer diagnosis. Breast Cancer Conversations provides education, and inspiration, and offers hope. You will hear stories from those diagnosed with breast cancer, interviews with medical professionals, and thought-leadership emerging from the oncology field. Welcome to our breast cancer community! Welcome to the conversation.
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Love the episode? Send us a text! In this special episode of Breast Cancer Conversations, host Laura Carfang speaks with Dr. Troso about the evolving role of DNA testing in breast cancer care. Together, they break down the three main types of testing: Hereditary genetic testing: Identifying inherited mutations such as BRCA1, BRCA2, and PALB2 (among…
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Host Matt Burgess interviews Gidon Schwartz from Genetics, a UK charity offering pre-conception carrier screening and partnering with the NHS to increase access to BRCA and carrier testing for people with Jewish ancestry. They discuss why ancestry matters for certain recessive conditions, how testing and outreach have evolved, ethical and identity …
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Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC, explain how Mayo Clinic Laboratories' WESPR whole exome sequencing reflex test provides cost-effective diagnosis of complex genetic conditions. Using samples and data from previous targeted gene panels, WESPR's wider net can identify undetected genetic variants. (00:32) Would each of you sha…
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Host Matt Burgess interviews genetic counsellor and content creator Dena Goldberg (Dena DNA) about her path from clinical genetics to social media, her work educating the public on Lynch syndrome and cancer genetics, and how storytelling makes complex science accessible. The episode also covers Dena’s personal experiences with infertility and an un…
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Published August 28, 2025 In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and Matthew Binnicker, Ph.D., a microbiologist and virologist and chief scientific officer of Mayo Clinic Laboratories, discuss recent developments in viral infections. Together, they explore: S…
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In this episode Matt Burgess interviews Darryl Beitsch about his lifelong experience with Charcot‑Marie‑Tooth (CMT) and the late discovery that his neuropathy is caused by mutations in the SORD gene. They discuss diagnosis, nerve testing, genetic testing advances, family implications, volunteering with CMT Australia, and the importance of research,…
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Love the episode? Send us a text! In this episode of Breast Cancer Conversations, host Laura Carfang sits down with Dr. Rebecca Knackstedt, Assistant Professor of Plastic Surgery at Duke University and founder of the popular Instagram community @surgical_recovery. Together, they explore the groundbreaking concept of prehabilitation (“prehab”) befor…
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Genetic counsellor Matt talks with Devin Shuman, a fellow genetic counsellor and rare-disease patient, about her family’s diagnosis of mitochondrial DNA depletion syndrome, the long diagnostic odyssey from muscle biopsy to a candidate gene discovery, and the realities of genetic testing. Devin discusses the process of a disease causing variant in G…
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Published August 14, 2025 In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, discuss recent news about the use of artificial intelligence (AI) tools in healthcare. Together, they explore: …
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Welcome to another enlightening episode of Demystifying Genetics, hosted by Matt Burgess. In this episode, we dive deep into the world of Charcot-Marie-Tooth disease (CMT) with Dr. Peter Critchley, who himself is affected by this genetic condition. The conversation uncovers the nuances of CMT, focusing on CMT1A - the specific gene in Peter's family…
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In our final episode of The Road to Genome season 5, we speak to the CEO of Genomics England Dr Richard Scott about the work of Genomics England, the creation of the Generation Study, and having the tough discussions to drive the future of genomics. Dr Richard Scott joined Genomics England in 2015. He is also a Consultant and Honorary Senior Lectur…
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Love the episode? Send us a text! In this episode of Breast Cancer Conversations, I had the pleasure of interviewing Dr. Tiffany Troso Sandoval, a highly esteemed medical oncologist who has dedicated over 25 years to treating women's cancers. Dr. Troso shared her extensive experience and insights into the evolving landscape of oncology, particularl…
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In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by Elitza Theel, Ph.D., director of the Infectious Diseases Serology Laboratory at Mayo Clinic, for a timely discussion on tick-borne diseases. Topics covered include: Observations from this year’s tick season …
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In the penultimate episode of Season 5, we talk to David Bick - Principal Clinician for the Newborn Genomes Programme at Genomics England, who tells us more about the programme's Generation Study, and how the echoes from the past are helping to usher in the future. The Generation Study is a groundbreaking research study which will sequence the geno…
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In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, discuss summertime illnesses and key insights from a recent diagnostic investment event. Together, they explore: Common summertime illnes…
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Linda Hasadsri, M.D., Ph.D., and Huong Cabral, M.S., CGC, explain how Mayo Clinic Laboratories' expanded test panel captures rarer as well as more common genetic causes of hereditary pancreatitis. That information is key to managing patients' enhanced risk for pancreatic cancer. (00:32) Could you both please tell us a little bit about yourself and …
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Join host Matt as he engages in a captivating conversation with his guest, American genetic counselor Erica Ramos. In this episode of Demystifying Genetics, Erica shares insights into her favorite gene, the HFE gene, associated with hereditary hemochromatosis. Their discussion delves into the evolution of understanding this condition and the import…
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In this episode of The Road to Genome, we speak to Dame Janice Sigsworth, Chief Nursing Officer, about her path into the world of genomics, and the work being done to share and awaken the knowledge of genomics in the workforce. Genomics touches us all in many ways, and brings it's own challenges and successes to those both in and out of the NHS wor…
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In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, share insights from industry news and recent conferences, including PlatforMed. They explore: The significant interest in diagnostics for…
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Joshua Bornhorst, Ph.D., explains how Mayo Clinic Laboratories' labile copper assay (Mayo ID: LBCS) improves upon standard blood tests for Wilson's disease. The new test measures not just overall copper but also the fraction of copper that is bioavailable, or labile bound. (00:32) Can you tell us a little bit about yourself and your background? (01…
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Love the episode? Send us a text! A cancer diagnosis is life-changing. For individuals navigating breast cancer, the focus often centers on survival—completing treatment, managing side effects, and getting back to “normal.” But for many survivors, what follows is far from familiar. The emotional, physical, and relational impacts of cancer can linge…
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John Lieske, M.D., and Sandra Taler, M.D., explain how Mayo Clinic Laboratories' mass spectrometry assay helps evaluate patients for resistant hypertension. The test detects antihypertensive medications in urine, providing evidence of whether patients are absorbing their medications or whether a new treatment approach might be needed. Speaker 3: (0…
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In this episode, Helen talks to Nikki Smith, trainee on the STP (Clinical Scientist Training) programme at Guy's & St Thomas' NHS Foundation Trust. Nikki has taken many twists and turns to get to her current role on the STP programme, and shares with us about her experiences on the programme, the many inspiring people she has worked with, and her o…
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In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and Div Dubey, M.B.B.S., a neurologist and co-director of the Clinical Neuroimmunology Laboratory at Mayo Clinic, explore the topic of peripheral neuropathy. Their discussion covers: The high prevalence of peripheral neu…
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Joseph Yao, M.D., explains how Mayo Clinic Laboratories' new quantitative assay (Mayo ID: ADVQU) goes beyond qualitative testing to evaluate transplant patients for adenovirus infection. Adenovirus can cause life-threatening disease in immunocompromised transplant patients, especially children. (01:14) Could you give us a brief overview of this ass…
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Love the episode? Send us a text! In this episode of Breast Cancer Conversations, I had the privilege of speaking with Bob Furniss, a father, husband, and author who has turned his family’s heartbreaking experience with breast cancer into a mission to educate and advocate for early detection. Bob and his wife Susan founded the nonprofit WarriorPrin…
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Love the episode? Send us a text! In this episode of Breast Cancer Conversations, I had the pleasure of speaking with Cindy Fortuna, a registered holistic nutritionist who specializes in supporting individuals navigating and recovering from cancer. Cindy brings a wealth of knowledge and personal experience to the table, having faced her own cancer …
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In this episode, Helen is in Guy's Hospital London, supported by the South East Genomic Medicine Service, talking to Mel Dixon about her experience with the rare genetic condition DHDDS. After two of Mel's children were diagnosed with DHDDS, Mel and her husband Charlie founded Cure DHDDS, a charity set up to raise awareness, support families and he…
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Love the episode? Send us a text! How A Walk in the Woods Changed Everything: Regan’s Story of Healing and Breast Cancer Survival In this episode of Breast Cancer Conversations, I had the pleasure of speaking with Regan Stacey, a breast cancer survivor and advocate for the healing power of nature. We delved into the profound impact that connecting …
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In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, discuss global trends in diagnostic manufacturing and their implications for laboratory professionals. Topics include: Emerging innovatio…
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In the season finale of Demystifying Genetics, host Matt is joined by fellow genetic counselor and podcaster, Kate Wilson, the voice behind All Access DNA. They delve into the evolving landscape of genetic counseling, exploring Kate's personal journey from rural beginnings to becoming a passionate advocate for equitable access to clinical genetics.…
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In this episode of "Demystifying Genetics," host Matt Burgess speaks with English research genetic counsellor Joshua Nolan. They explore topics such as the underrepresentation of males in genetic counselling, the intricacies of direct-to-consumer genetic testing, and the symbiosis between clinical and research work in genetics. Joshua shares his in…
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In this first episode of our new season, Helen Bethell is at the School of Clinical Medicine, Addenbrooke's Hospital in Cambridge, talking to Eddie Blair, Vice-Chair of the Patient & Public Voice Forum for the East Genomic Medicine Service. Eddie shares his career journey through microbiology and virology, along with his experience as a genomic pat…
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Love the episode? Send us a text! In this episode, I had the pleasure of speaking with Nina Prol, an experienced oncology nurse and SurvivingBreastCancer.org's amazing Pilates instructor. Nina has been a vital part of our community, offering free, virtual Pilates classes that are accessible to anyone. We dive into the benefits of Pilates, especiall…
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In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, to discuss the value laboratories deliver for their entire health system. They cover how laboratories impact: Growth in revenue …
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This episode of the "Demystifying Genetics" podcast features an insightful conversation with Ahmed-Sherrif Kanvela Yussif, one of the first genetic counsellors in Ghana. Host Matt Burgess delves into Ahmed's pioneering journey, exploring the role of genetic counseling in Ghana's healthcare system and its impact on public health, particularly regard…
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Love the episode? Send us a text! Genetic tests like 23andMe are perceived as a fun and engaging way to explore family history, However, the implications of genetic testing extend beyond mere curiosity about ancestry; they touch on the very fabric of our lives and the lives of our loved ones. For those who discover they carry genes associated with …
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Join host Matt, a seasoned genetic counselor, as he delves into the evolving world of clinical genetics in the latest episode of Demystifying Genetics. With guest Jaime Jessen-Brown, a genetic counselor based in Toronto, Canada, this podcast episode explores their shared journey from studying in Newcastle, Australia, to Jaime's diverse career path.…
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Love the episode? Send us a text! In the podcast episode, I speak with Kate Garcia and Jen Tipton, and discuss the significant role that yoga can play in the lives of breast cancer survivors and thrivers. Both Kate and Jen lead yoga classes for our SurvivingBreastCancer.org (SBC) community and they share their personal experiences and insights on h…
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In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, to discuss tick-borne diseases. They cover: Different diseases patients can get from ticks. Disease prevention, including Dr. Pr…
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Join Matt Burgess in this episode of Demystifying Genetics as he sits down with Dr. Kylie Morgan, a genetic counsellor from Melbourne, to explore the emerging field of polygenic risk scores. Discover how this new form of genetic testing is shaping clinical practices in both Australia and the United States. Learn about the personal experiences of ge…
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Love the episode? Send us a text! In this episode of Breast Cancer Conversations, I, Laura Carfing, founder of survivingbreastcancer.org, delve into the critical topic of fertility preservation and genetic counseling for breast cancer patients. Joined by Alejandra Bernal, a genetic counseling student at the University of Pittsburgh, and Melissa Bou…
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Love the episode? Send us a text! In this episode of Breast Cancer Conversations, host Laura Carfang welcomes Dr. Amy Morris, an ovarian cancer survivor and cancer researcher, to discuss navigating health and wellness post-cancer diagnosis. We delve into essential topics such as the side effects of treatments like chemotherapy, radiation, and hormo…
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In this episode of “Answers From the Lab,” William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, is joined by Russ Lebovitz, M.D., Ph.D., CEO and co-founder of Amprion. They discuss their strategic collaboration and the innovative SAAmplify™–αSYN (CSF) test. They covered: Details about how the cerebrospinal fluid biomarker …
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Lauren Giannetti-Sferrazza, a genetic counselor from New Jersey, shares her journey transitioning from clinical practice to industry and discusses the evolution of genetic counseling roles. Throughout the conversation, she offers insights into balancing professional responsibilities and personal experience as a pregnant genetic counselor preparing …
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Paul Jannetto, Ph.D., explains how Mayo Clinic Laboratories' SPAS test identifies the form of arsenic present in patients with arsenic exposure. That information is important for determining the potential level of harm and for removing the patient from the arsenic source to ease symptoms and prevent cancer risk. (00:33) Do you mind telling us a lit…
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Professor Marion McAllister shares the fascinating journey of developing the Genetic Counselling Outcome Scale, a groundbreaking tool that measures patient empowerment rather than just anxiety reduction. We explore how this simple questionnaire transformed genetic counselling assessment worldwide and evolved to meet changing healthcare needs. • Cre…
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In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, to discuss the recent court judgment on the U.S. Food and Drug Administration’s (FDA) oversight of lab-developed tests (LDT). Th…
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Scott Weissman shares his journey of building a telehealth genetic counseling private practice, discussing the challenges of insurance contracts, licensing across states, and adapting to technological changes in cancer genetics. • Opened private practice in 2016 as a side business, now seeing 15-20 patients weekly • Despite having licenses in 25-26…
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Jessica Wright, Pharm.D., BCACP, explains how Mayo Clinic Laboratories' 3A5Q test helps determine initial tacrolimus doses for individuals after non-liver organ transplants. Optimal tacrolimus levels are one of the important factors in survival of the transplanted organ. (00:32) Could you provide us a with little bit about your background and yours…
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