Genetics for Healthcare

por Rome Madison

Temporada 2

The Prevention Revolution: How Precision Medicine is Powering a Shift From Sick Care to Real Health Care

Today Rome sits down with a living legend: Dr. Lee Hood, CEO of Phenome Health, a trailblazer who helped launch the Human Genome Project and has spent 60+ years pushing medicine forward. This triumphant conversation shows how precision medicine—using your genome, your microbiome, your blood, and even your wearables—can predict risk early, prevent disease, and extend health span. Dr. Hood shares how systems biology and P4 medicine (predictive, preventive, personalized, participatory) are moving us beyond “sick care” to true health care. We dig into how blood is a “window” into the body’s organs, why multi-omic data plus AI can surface thousands of actionable steps, and how polygenic risk scores and early biomarkers can flag danger years before symptoms. Dr. Hood explains practical wins: lowering biological age, catching metabolic trouble early, and building brain resilience well into our 80s and 90s. Most of all, he makes the future feel reachable—and worth fighting for. Listen for these key takeaways: - Prevention first: Use data (genome, blood, wearables) to spot risks early and act before disease starts. - Simple steps matter: Food, sleep, movement, and targeted fibers can shift biology in the right direction. - Measure what matters: Track biological age, metabolic health, brain function, and resilience over time. - AI as a guide: Smart tools can translate complex data into clear, safe actions for doctors and patients. Join us for a bold look at why the future of preventing disease is here now!

T2 · E60

11 jul 2026

42:48

Temporada 1

Rare Disease = Real Community: Turning Social Media Connections Into Research Partnerships That Drive Precision Medicine Solutions

In this episode Kasey Walsh explains how simple social media connections grew into formal research collaborations, a nonprofit, and a patient‑owned data platform, all motivated by her determination to help her daughter Robbie, who was born with an AP-4 hereditary spastic paraplegia (AP‑4 HSP). She has partnered with institutions like Boston Children's Hospital, the Broad Institute, and the University of Cambridge to move AP‑4 from case reports to research action. Kasey co‑founded Cure AP‑4 and created WinSights to turn caregiver stories into research data that supports precision medicine. Her work helped find biomarkers, reclassify patients once thought to have cerebral palsy, and start drug‑repurposing studies that identified existing FDA‑approved medicines that showed activity in AP‑4 models. She candidly shares their diagnostic journey to a diagnosis, tips for working with clinicians, and how families can help shape translational research. Listeners who face a rare disease diagnosis will learn how to turn lived experience into real‑world evidence and join a community that helps accelerate precision medicine therapies for children and adults. Key takeaways: - Build community: online groups can lead to treatment opportunities and practical information to make daily life better for a family managing a rare disease. - Own your data: patient‑stewarded health information powers precision medicine studies. - Practical steps: seek genetic testing, connect with specialty centers, and link with advocacy groups (NORD, Global Genes). META DESCRIPTION Looking for hope after a rare disease diagnosis? Hear Kasey Walsh share how her daughter Robbie inspired partnerships with Boston Children's and the University of Cambridge to find treatment for AP-4 hereditary spastic paraplegia (AP-4 HSP). Learn how social media groups became real research teams, and practical steps families can take to find community, resources, and next actions to improve care for rare diseases. We help you learn the language and build confidence to advocate for a precision medicine approach to your health and wellbeing.

T1 · E58

5 jun 2026

36:33

INEQUITY KILLS: Access Without Equal Care Drives Preventable Cancer Deaths

EPISODE SUMMARY Rome experienced a career high talking with Dr. Otis W. Brawley, a globally recognized Medical Oncologist and Epidemiologist at the Johns Hopkins Kimmel Cancer Center, about his work to reduce healthcare disparities. Dr Bawley is a former Chief Medical and Scientific Officer of the American Cancer Society, and an author on the recent Report on the Status of Disparities in the United States 2025. Rome gets to the heart of why his work has shown that people do not always get the same care inside the health system. Dr Brawley says giving people access to care is not enough. Many patients still get later diagnoses, slower follow‑up, weaker or older treatments, and fewer chances to join clinical trials. These are real, measurable differences caused by provider choices and are at the root of cancer disparities. Key takeaways from this in-depth conversation about disparities: Care that causes disparities differs in clear ways, including delays in diagnosis and treatment inequity. Why systemic changes to protocols and measuring clinician adherence beats simple training to deter differential treatment. Practical solutions like patient navigation and equity metrics to reduce preventable deaths. META DESCRIPTION What if a doctor’s choice—more than the cancer—decides who lives? Dr. Otis W. Brawley, a globally respected voice from the Johns Hopkins Kimmel Cancer Center, showed that black and brown patients often get worse care because doctors make different choices for them: fewer tests, slower follow‑up, less aggressive treatment, or no offer to join clinical trials. These choices come from wrong assumptions about what patients want, limits at busy or underfunded clinics, and they lead to later diagnoses and more deaths in communities of color. We need clear care rules, better tracking of who gets which treatments, and supports like patient navigation so decisions on the quality of care are fair for everyone.

T1 · E57

29 may 2026

47:44

Guardians of the Genome: p53 and the Impact of Li-Fraumeni Syndrome

Journalist Larry Ingrassia speaks candidly with Rome about the years his family spent facing unexplained, early‑onset cancer diagnoses before anyone knew Li‑Fraumeni syndrome existed. He recounts the shock of watching relatives fall ill, the delays in diagnosis, and the sense of powerlessness that followed when no one connected the dots. The lost opportunities for earlier detection and prevention, still weighs heavily in Larry’s work today. As an advocate, he champions routine germline TP53 testing for families with suspicious cancer patterns, pushes for access to specialized surveillance programs, and partners with clinicians to translate genetic results into concrete prevention plans. Larry seeks to spare other families the years of uncertainty his endured and to make early detection and prevention the norm rather than the exception. Listen for these key takeaways from this conversation: Learn how p53 normally guards the genome, and why inherited p53 mutations dramatically raise cancer risk. Why unrecognized Li‑Fraumeni syndrome can lead to preventable delays in cancer detection and treatment across generations. How genetic testing and tailored surveillance can turn a family mystery into a cancer prevention and early‑detection plan. A Fatal Inheritance was named to the 2024 Best Non-Fiction Book list on Amazon! Learn more from the Li-Fraumeni Syndrome Association META DESCRIPTION What if your family kept getting strange, early cancers and no one could explain why? In this episode, author and journalist Larry Ingrassia tells how Li‑Fraumeni syndrome, a rare inherited change in the TP53 gene, was the missing answer for his family. TP53 makes a protein called p53 that helps fix damaged DNA or tells broken cells to die. When TP53 does not work as it should, people can get many kinds of cancer at a young age. Larry shares how years of confusion and missed chances to find cancer early cost his family time and peace of mind. He explains, in plain words, how a simple genetic test can find the TP53 change and how regular, careful medical checks can help prevent or catch cancer sooner. Our hope is that other families will learn, get tested, and use prevention so fewer people go through what his family did. Learn the language and build the confidence to be an effective advocate for a precision medicine approach to your health!

T1 · E56

24 may 2026

43:00

Precision Medicine Saves Dollars & Makes Sense: How Population Health Screening Can Save Lives for Less

Where did you grow up and what attracted you to a career in medicine? What is precision medicine? This phrase has been used primarily to describe a different approach to cancer care. tumor profiling – molecular characterization of a person’s cancer cells what drives it but your POV is prevention, and implementing an pathway to integrate genetics and genomic information into the healthcare ecosystem to be acted upon at different points of care along a patient’s journey When you started to build the program at The Christ Hospital in Cincinnati, how did you decide what you were going to go after? [HerCan testing + PGx] early detection -- St I-II prevention – prophylactic surgery avoid side-effects or drug interactions [adverse events] You must compete for resources. What motivated the hospital to want to invest in this kind of program which does not yield ROI immediately? Was there pushback? Who needs to champion this vision and work? What were the results? # patients tested people in high-risk programs money saved on unnecessary procedures or therapy BOD of MADP Alliance for Disease Prevention- Forgot to mention: MADP has rebranded from "Microbiome Alliance for Disease Prevention" to simply "MADP Alliance for Disease Prevention." Founders wanted to focus on Microbiome, but we've dramatically expanded scope :) CDC Chronic Disease fast facts Addressing Chronic Disease Medicare—93% & Medicaid—82% in 2022 – chronic disease spending People with chronic disease use a disproportionate share of health care resources 90% prescription drugs = $4.5 trillion 3-of-every 4 (75%) healthcare dollars spent on people with chronic conditions Diabetes: ~$413 billion (2022) in medical costs and lost productivity.38M have diabetes + 98M pre-diabetes CKD $96 billion Heart Disease & Stroke $234 Billion/yr 🡺 $2 trillion by 2025kills more American than anything (1-in-4 deaths) HBP $79 billion Employers loss of productivity – people w/top 10 chronic conditions absent/person ea yr = 164M work days lost = $184 billion in lost productivity Depression – 25.6 days Cancer 17 days Respiratory – 15 Asthma – 12 Migraines – 11 Allergies – 8 Heart Disease – 6 Arthritis – 6 Diabetes – 2 HBP – 1

T1 · E55

15 may 2026

46:50

If a Doctor Can Be Denied Genetic Testing, It Can Happen to Anyone!

In this gripping episode of Genetics for Healthcare, we sit down with Dr. Alexea Gaffney-Adams, an infectious disease specialist and internist who found herself on the wrong side of the medical system she serves. Despite knowing and sharing her family history, as well as her insistence on her own high-risk status, Dr. Alexea was repeatedly denied genetic testing by her own colleagues—a decision that transformed her from a potential "pre-vivor" into a late-stage cancer survivor. This conversation reveals an uncomfortable reality of cancer disparities, illustrating how these gaps in care are created when high-risk patients, particularly Black women, are not offered the genomic tools necessary to prevent disease. It was only after being diagnosed with cancer in both breasts that she finally received the testing that identified her as a PALB2 gene mutation carrier. According to FORCE (Facing Our Risk of Cancer Empowered), a PALB2 mutation significantly increases the lifetime risk for breast cancer—estimated between 33% and 58% by age 70. Furthermore, this variant is linked to increased risks for pancreatic and ovarian cancers, and potentially male breast cancer. Listen for these uber critical learnings: Don't Let Doctors Be Financial Gatekeepers: Providers often wrongly deny tests based on assumed costs; always demand to know the actual price and consult a certified genetic counselor to determine your true eligibility. Ask for the data: armed with your family history, ask your doctors “what are the guidelines for testing (or treatment)?” or “what do studies say someone in my condition should do, and why is it better than other options?” You may find they’re not qualified to answer these questions. Exercise your right to a 2nd opinion: even if you are seeing "top-tier" specialists, you should never feel that questioning them is an act of disrespect. It’s your life! If they’re offended, that should tell you something about them, because they should want what you want in this process. Dr. Alexea’s story is a chilling reminder that even a medical degree cannot always protect a patient from systemic bias and clinical misinformation. Subscribe to the podcast and become your own best advocate for your health! META DESCRIPTION What if your doctor told you "NO" to a test that could have saved you from cancer? Listen as Dr. Alexea, a Black woman and a doctor herself, shares her shocking story. She was wrongly denied genetic testing for breast cancer by her colleagues and eventually was diagnosed with advanced cancer in both breast! This episode explains how this kind of medical mistreatment creates cancer disparities for Black women. Learn about the PALB2 gene mutation she carries and how it increases breast cancer risk. We talk about the critical importance of patient advocacy, learning the language of precision medicine, and having the confidence to push back to get the care you need and deserve. We help you learn the language of precision medicine, and build the confidence you need to be an effective advocate for your health through genetics. LINKS FORCE website: PALB2 Gene Mutations and Cancer Risk Dr Alexea on Facebook Dr Alexea on Instagram

T1 · E54

8 may 2026

52:46

No Versus Know – How to Speak Up When You Don’t Understand Your Doctor

When doctors speak quickly or use medical terms, patients often leave appointments feeling unsure about what just happened, and that confusion can cost you your life. In this episode Dr. Beatrice Preti explains why it’s crucial to build the confidence to ask questions, to insist on clear explanations, and to push for options that fit your values and lifestyle goals. They discuss real cases where patients who asked for clarity made different choices—choices that preserved quality of life or avoided unwanted side effects, and why chart notes that label someone as “refusing treatment” can misrepresent a patient who simply didn’t understand. She also calls on physicians to take a few minutes to learn who their patients are as people — their goals, work, hobbies, fears — because that context makes it easier to tailor treatments. Listen for these useful ways to communicate with your doctor: Name your goals: tell your clinician what matters most (quality of life, work, hobbies, family) Refuse to accept confusing explanations: confusion is not consent. Take time, if possible, to pause making a decision to think, ask more questions, or get a second opinion Bring support: a friend or family member can help ask questions and remember answers. This episode makes a clear case: silence or confusion in the clinic isn’t harmless. Speaking up, asking for time, seeking second opinions, and insisting on explanations aren’t rude — they are essential steps to protecting your health and making care fit your life. META DESCRIPTION What if staying quiet in the doctor’s office cost you the life you want? Dr. Beatrice Preti and host Rome Madison explain why speaking up matters. If medical words make no sense or a treatment plan feels wrong, you must ask questions until you understand. Learn why saying “I don’t get it” is not rude — it protects your health, your goals, and your choices. Hear real stories of patients who changed their care after asking for clarity and learn practical tips for speaking up to make sure you KNOW what’s going on. Doctors also need to listen and spend a few minutes to know who you are beyond the diagnosis. Don’t leave your doctor’s office confused! Your voice shapes your care — use it. Tune in to learn how to build confidence, demand clear answers, and make shared medical decisions with your doctors that fit your life.

T1 · E53

1 may 2026

40:18

Don’t Let Your Doctor’s Genetics Blind Spot Kill You – Educate Yourself (and your doctor) On ATM Gene Variants and Cancer Prevention

In this eye-opening episode, we sit down with Krista Brown, an oncology nurse navigator whose personal journey dramatically exposes the critical knowledge gaps in modern healthcare regarding genetic variants and cancer risk. Despite her professional background, Krista found herself navigating a system where her own ATM variant – a genetic mutation significantly increasing her risk for breast, pancreatic, and ovarian cancers – was largely unknown or misunderstood by her care providers. Krista's family history is poignant: her mother, initially negative for BRCA, later discovered an ATM mutation, which Krista subsequently inherited. This propelled Krista into a proactive health journey, including seeking expanded gene testing and making the courageous decision for a preventative mastectomy. Shockingly, it was during this preventative procedure that early-stage breast cancer was discovered in the pathology, underscoring the life-saving impact of her self-advocacy. Key Takeaways from This Episode: Genetic Literacy is Life-Saving: Learn why understanding your genetic predispositions, even beyond common variants like BRCA, is crucial for early detection and prevention, and how to advocate for comprehensive testing. The Power of Self-Advocacy: Krista's journey highlights the necessity for patients to educate themselves and challenge healthcare providers when their specific genetic risks are overlooked or misunderstood. Nutrition as a Prevention Tool: Discover why integrating proper nutrition is an empowering and actionable step, especially for individuals with genetic predispositions, to actively reduce cancer risk. This episode is a stark reminder that patients can't make informed decisions if doctors aren't educating us on our options. Learn why Krista is now a passionate advocate for genetic literacy in healthcare, emphasizing proactive testing, personalized care, and the often-overlooked role of nutrition in cancer prevention. META DESCRIPTION Do you know your true cancer risk? Meet Krista Brown, a nurse who had to teach her own doctors about the ATM gene mutation that put her life in danger. This meant she had a much higher chance of getting breast, pancreas, and ovarian cancers. Even though she worked in healthcare, her doctors often didn't know what this specific gene change meant or how to properly help her. Her story exposes a big problem in healthcare: sometimes doctors don't know enough genetics and cancer risks. If they don't have this knowledge, how can they guide you? Learn why it's super important to ask questions, learn about your own genes, and speak up for your health.

T1 · E52

23 abr 2026

37:23

Genetics, Sleep and Your Brain - Precision Medicine Advancing Early Detection in Neurology

Alzheimer’s disease and other neurodegenerative disorders don’t appear overnight—they develop silently in the brain for years. In this episode, we explore how genetics, sleep, and lifestyle combine to shape your brain health, and why precision medicine may be the key to earlier detection and more effective treatment. Dr. Kimberly J Hatchett, The Neuro Doc, breaks down, in plain language, how certain genes increase risk for Alzheimer’s disease, Parkinson’s disease, dementia, and other neurological conditions—and what that means for you and your family. We dive into how cutting‑edge brain imaging, genetic testing, and sleep data are coming together to create truly personalized care plans. Don’t miss these key takeaways: How genetics influence your risk for Alzheimer’s disease and other brain disorders—and why genes are not destiny. Why sleep quality is emerging as a powerful, controllable standard of long‑term brain health. How precision medicine and personalized neurology are changing early detection, diagnosis, and treatment options. Practical steps you can take now to support brain health, even if you have a strong family history of neurological diseases. If you’ve ever wondered whether you should get genetic testing to determine risks for neuro diseases, how to protect your memory, or what sleep for a healthy brain really looks like, this conversation offers an evidence‑based roadmap for proactive brain health. META DESCRIPTION Are you worried about Alzheimer’s disease or keeping your brain sharp as you age? The Neuro Doc Dr. Kimberly J Hatchett explains brain health in simple, clear language. She talks about how your genes, sleep, and daily habits can raise or lower your risk for Alzheimer’s, dementia, Parkinson’s disease, and other brain problems. You’ll learn what “precision medicine” means and how doctors are starting to use genetics and sleep data to create brain care plans that are personalized for each person. If you want practical ideas to support your brain health today—and better understand your risk for future disease—this episode gives you clear, science-based guidance you can use right away. LINKS DrKimNeuroDoc on TikTok Follow Dr Kim on Instagram drkimberlyjhatchett.com

T1 · E51

17 abr 2026

38:07

10 Family Cancer Deaths to Zero: The Transformative Impact of Genetic Testing

In this monumental 50th episode, we celebrate the remarkable journey and courage of Diane Hardesty, a hereditary cancer awareness advocate and cancer previvor. Diane's story is a powerful testament to the life-saving potential of genetic testing. After losing ten family members to cancer, she took the crucial step to undergo hereditary cancer testing, leading to a transformative shift in her family's health trajectory, resulting in zero cancer deaths after testing. We delve into Diane's inspiring path, discussing the importance of awareness, education, and action in the face of hereditary cancer. Diane's powerful message not only emphasizes the significance of genetic testing but also highlights how it can save lives and prevent heartache for generations to come. Key Takeaways: Understanding the impact of hereditary cancer and the importance of genetic testing. Diane's personal experience of losing ten family members to cancer and the turning point she faced. How genetic testing empowered Diane to change her family's future and eliminate cancer risk. Practical advice for those considering genetic testing and navigating their own family histories. Tune in for an episode filled with hope, resilience, and the undeniable message that knowledge truly saves lives! We help you learn the language of precision medicine, and build the confidence to talk to your family and doctors about genetic risks. Become a more effective advocate for your wellbeing and turn sick care into true healthcare! META DESCRIPTION How can you prevent cancer in your family? In this episode, Diane Hardesty shares her powerful story of losing ten family members to cancer before discovering the life-changing benefits of genetic testing. After her testing, she experienced a dramatic shift—there have been no cancer deaths in her family since. This episode emphasizes the critical role of genetic testing in identifying hereditary risks and preventing cancer before it starts. Learn how knowledge of your genetic makeup can inform your choices, leading to early detection, proactive care, and ultimately, saving lives. Diane's journey highlights the importance of awareness and education around genetic testing for families facing cancer risks. Tune in to uncover practical insights on how you can take charge of your health and protect future generations from cancer. Join us for this important discussion on the significant impact of genetic testing in cancer prevention!

T1 · E50

10 abr 2026

54:07

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