Genetics for Healthcare

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

Journalist Larry Ingrassia [http://www.larryingrassia.com/] 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! [https://www.amazon.com/b/ref=s9_bw_cg_BOTY23BC_3d1_w?node=17296234011&pf_rd_m=ATVPDKIKX0DER&pf_rd_s=merchandised-search-10&pf_rd_r=SNJ345NGVYRVTTC2EQ8K&pf_rd_t=101&pf_rd_p=b3893904-df7d-4c33-b684-acefc75dc39d&pf_rd_i=17276804011] Learn more from the Li-Fraumeni Syndrome Association [https://www.lfsassociation.org/] 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!

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 [https://www.cdc.gov/chronic-disease/data-research/facts-stats/index.html] 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 [https://www.google.com/search?q=Diabetes&rlz=1C5CHFA_enUS608US608&oq=recent+numbers+on+healthcare+spending+on+top+10+chronic+diesases+in+the+US&gs_lcrp=EgZjaHJvbWUyBggAEEUYOTIGCAEQIRgKMgcIAhAhGI8C0gEJNDcxNzhqMGo0qAIAsAIA&sourceid=chrome&ie=UTF-8&mstk=AUtExfDnf-ha8zisHuMdKkVY44nNZfBhYN09uCXhc_0fu62voyA82wONLW_JufNc61we4xSDU9DF7198ZWlqgLNFODVC7tC14Mz3lu8gNDzHBFI9U00vkqJxAwwZEn5EJaCVkCDUUGIXutBYm_9CxfR2wLegJy_9k33hqw4IQxgnJVRvn2U&csui=3&ved=2ahUKEwjMnLH1mdWTAxW1lmoFHbxqHrUQgK4QegQIAxAB]: ~$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 2025 * kills 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

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 [https://www.dralexea.com/], 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 [https://www.facingourrisk.org/hereditary-cancer-genes-and-risk/PALB2-risks-prevention-treatment] Dr Alexea on Facebook [https://www.facebook.com/DrAlexea/] Dr Alexea on Instagram [https://www.instagram.com/dralexea/]

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.

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.