Narrative medicine, story telling, BRCA and breast cancer. In this conversation, Sarah shares their personal journey with being a BRCA1 carrier and experiences with breast cancer. She discusses the emotional weight of genetic risk, the complexities of identity as a previvor, and the importance of narrative in understanding and coping with illness. Sarah also reflects on their professional background in medical anthropology and genetic counseling, emphasizing the need for patient-centered care and the power of storytelling in healthcare. The discussion touches on themes of grief, hope, and the ongoing nature of living with a genetic condition, culminating in Sarah's insights on how poetry and narrative can help articulate the complexities of these experiences.

Key Takeaways:

Sarah Roth (@othersarah) is a writer, educator, and genetic counselor based in Baltimore. Her literary work appears in Columbia Journal, Denver Quarterly, Notre Dame Review, and elsewhere, and she ​is an assistant poetry editor at Asymptote Journal and editor in chief of Tendon Magazine. Sarah holds an MFA in Creative Writing from University of Notre Dame and is currently completing her PhD at Johns Hopkins University.

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

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The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Heart disease and lack of genetic testing. In this conversation, Ana Morales discusses the critical signs of genetic heart disease, particularly focusing on early onset conditions and the importance of recognizing red flags such as elevated cholesterol and complications during/after pregnancy. She emphasizes that these health issues should not be ignored and highlights the need for awareness and proactive health management.

Key Takeaways:

Ana Morales is an Associate Professor at the Geisinger Department of Genomic Health, a board-certified genetic counselor, and a Translational Health Sciences Ph.D. candidate. Her dissertation, titled "Development of a Guideline-Based Innovation to Support the Genetic Evaluation of Cardiomyopathy and Arrhythmia: An Exploratory Mixed Methods Study," aims to address existing guideline gaps by developing an implementation plan for an innovation designed to support the genetic evaluation of cardiomyopathy and arrhythmia.

Ana's prior work includes evaluating genetic testing utilization, highlighting the underutilization of cardiomyopathy genetic testing. She has also contributed to key literature, including co-authoring the American College of Medical Genetics and Genomics/Heart Failure Society of America guideline on the genetic evaluation for cardiomyopathy and the National Lipid Association guideline on familial hypercholesterolemia (FH).

Currently, Ana serves as the Principal Investigator for the NIH-funded IMPACT-FH study, which investigates implementation science-based strategies to promote cascade genetic testing in primary care. Ana has held professional leadership roles, including membership in the ClinGen Cardiovascular Disease and Ancestry/Diversity Working Groups, as well as serving as the 2019 President of the American Board of Genetic Counseling. She currently chairs the Clinical and Laboratory Standards Institute's Standard 29 group, a position dedicated to fostering effective communication and collaboration with clinicians and test utilization management.

Outside of her professional work, Ana enjoys spending quality time with family and friends, exploring new foods, dancing, appreciating visual art, and diving into diverse non-fiction books.

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

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Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Weight management, epigenetics, and childhood obesity. In this conversation, Dr. Evan P Nadler discusses the complexities of childhood obesity, emphasizing that it is a disease influenced by genetics, maternal health, and lifestyle factors. He highlights the importance of understanding the role of epigenetics and the in utero environment in the development of obesity. The discussion also covers the myths surrounding childhood obesity, the impact of genetics versus lifestyle choices, and the potential benefits of genetic testing. Dr. Nadler advocates for a comprehensive approach to treatment, including lifestyle changes and medical interventions, while encouraging parents to seek help and to not feel shame about looking for answers.

Key Takeaways:

Evan P. Nadler MD served as Co-Director of the Children’s National Obesity Programs and Director of the Child and Adolescent Weight Loss Surgery Program at Children’s National Hospital from 2009 until 2023. He was also a tenured Associate Professor of Surgery, and Pediatrics, at The George Washington University School of Medicine & Health Sciences and continues there as an Adjunct Associate Professor. Before moving to Washington DC, he was the Director of Minimally Invasive Pediatric Surgery at the New York University School of Medicine where he participated in US Food and Drug Administration-approved studies using laparoscopic adjustable gastric banding in adolescents with obesity. His current pursuits include pediatric obesity treatment program development as a Founder of ProCare Telehealth, authoring a book on obesity, and educating the public about obesity via his YouTube channel, website, and media appearances. Dr. Nadler is an international leader in the field of child and adolescent obesity, has authored multiple publications and textbook chapters on the topic of pediatric bariatric surgery, and was one of the founding members of the Childhood Obesity Committee of the American Pediatric Surgery Association. 

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

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Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Diet, genetics, and lifestyle. In this episode we talk to Natalie Samson, a genetic counselor with certification in Integrative and Functional Nutrition who is also a certified Integrative Health Coach. We talk about the role of genetics and molecular/biochemical pathways that affect diet and weight. Natalie tells us about the role of genetic testing in nutrition management and functional health as well as the importance of working with a trained professional when considering this type of testing. We also discuss nutrigenetic testing for children and the integration of nutrigenomics into mainstream medicine.

Key Takeaways:

Natalie is a board certified genetic counselor hoping to transform healthcare through personalized, integrative, and preventative approaches. She also obtained her Integrative Health Coach Certification and completed her Integrative and Functional Nutrition Certification. She established her own practice, Golden Genetics to introduce an integrative approach to genetic counseling and testing, combining it with nutrition and nutrigenomics.

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

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Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Grief, genetics, and accessible testing. In this episode, Matt Goldstein shares his personal journey through grief after the loss of his daughter, Javi, who was diagnosed with Tay-Sachs disease. He discusses the impact of this experience on his career, leading him to focus on preventive genetics and the mission of JScreen, an organization dedicated to providing genetic testing and support. We explore the importance of preconception carrier screening, the advancements in genetic technology, and the emotional aspects of navigating grief and loss. Matt emphasizes the power of genetics in preventing diseases and the support systems available for families.

Key Takeaways:

Dr. Matt Goldstein, MD, PhD, is a dedicated physician-scientist and entrepreneur with a passion for advancing genetic research. As CEO of jscreen, he focuses on providing accessible, life-saving genetic testing to empower individuals with critical health insights. With extensive experience in biotech, Dr. Goldstein has led major initiatives, including founding and guiding companies like Tango Therapeutics and Neon Therapeutics through pivotal clinical developments and strategic partnerships.

A graduate of Stanford University's MD/PhD program, he completed his clinical training at Harvard Medical School. Driven by both professional and personal experiences, including the loss of his eldest daughter, Havi, to Tay-Sachs disease, Dr. Goldstein is deeply committed to jscreen's mission of proactive health management.

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

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Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

“The more innovation happens, it doesn’t mean a thing if patients can’t have access to it.” Today’s episode of All Access DNA features Rome Madison. Rome’s podcast- Genetics for Healthcare- aims to educate patients about genetic information and its relevance to their healthcare. Rome shares his personal journey from a sales background to podcasting, emphasizing the need for patient advocacy and access to genetic information. We explore the balance between commercial goals and ethical responsibilities in healthcare, the challenges of navigating insurance coverage for genetic tests, and the role of technology in improving patient access to precision medicine. The discussion highlights the importance of empowering patients with knowledge and encouraging them to advocate for their health.

Key Takeaways:

Rome Madison helps people and organizations in the life science industry increase confidence, embrace uncertainty and navigate chaos to rise and win in the market. With over 20 years of experience leading sales teams and go-to market strategy for successful start-ups and new products, Rome has Unreasonable Confidence that cancer and other chronic genetic diseases can be prevented, detected early, treated effectively and cured.

Rome has given more than 500 live speeches and is a charismatic virtual presenter that keeps your audience glued to the screen and engaged with his content. He has appeared on more than 50 tv and radio shows across the US as a precision medicine expert, and has been a featured speaker at the Consumer Electronics Show on The Future of Healthcare.

Rome’s podcast, Genetics for Healthcare: A Podcast for Patients, unites major healthcare stakeholders to close the gap of innovation and patient access to precision medicine. He is co-creator and host of the award-winning Precision Medicine Podcast, Google’s #1 rated podcast on the topic of next-generation cancer care, with listeners in over 108 countries.

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

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Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Prostate cancer, male infertility, and underserved populations. Brittany Szymaniak discusses the complexities of hereditary cancer risks, particularly focusing on prostate cancer and the role of BRCA genes. She emphasizes the importance of genetic counseling and testing, especially for men, and addresses the challenges in male reproductive health and infertility. The discussion also covers insurance aspects related to genetic testing and the significance of family communication regarding genetic results. Brittany highlights the need for increased awareness and research in men's health genetics, particularly for underrepresented populations.

Key Takeaways:

Brittany Szymaniak received her PhD in Genetics from the University of Rochester in 2016 and went on to complete her masters in Genetic Counseling from Northwestern University in 2018. That year Brittany joined the Urology Department at Northwestern Medicine as part of the Cancer Genetics Program, where she focuses on prostate/GU genetics, as well as male infertility. She also supports Digestive Health for inherited GI evaluations. Brittany is part of the core team that developed Northwestern’s EDGe (Early Detection in Genetics) Program, which provides follow-up care with patients with inherited cancer predisposition conditions. Under this program she serves as the point of contact for both Northwestern Medicine's BRCA+ Men's Clinic and VHL Clinical Care Center. She also serves as a panel member for the NCCN Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric Guidelines. Brittany is a faculty member with Northwestern's Genetic Counseling graduate program, serving as a thesis advisor, lecturer, and supervisor.

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

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Any inquiries on the podcast can be sent to [email protected]

Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Flexibility, pain, and fatigue are part of hypermobility EDS. In this conversation, Dr. Taylor Kerrins discusses Ehlers-Danlos Syndrome (EDS), particularly hypermobile EDS, covering its definition, symptoms, diagnosis, and management strategies. He shares personal experiences with the condition, the challenges of obtaining a diagnosis, and the importance of physical therapy and exercise. The discussion also touches on genetic testing and available support resources for patients. Taylor emphasizes the need for ongoing research and understanding of EDS, highlighting the complexities of the condition and the importance of community support.

Key Takeaways:

Dr. Taylor Kerrins is a Clinical Assistant Professor of Medical Genetics & Genomics at the Medical University of South Carolina.

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

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Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Pediatric cancer and genetic testing. In this conversation, Sarah Scollon discusses the complexities of childhood cancer, particularly the genetic factors that may contribute to its development. She explains the differences between tumor and germline testing, the importance of identifying children at risk for hereditary cancer syndromes, and the evolving guidelines for genetic testing in pediatric oncology. The discussion also touches on the psychosocial aspects of genetic counseling, informed consent, and the implications of genetic testing for families. Sarah emphasizes the need for ongoing research and the importance of communication with families about genetic risks and testing options.

Key Takeaways:

Sarah Scollon is an Assistant Professor in the Department of Pediatrics at Baylor College of Medicine (BCM) and lead genetic counselor for the Texas Children’s Cancer and Genomics Program. She has served in dual clinical and research roles across the course of her career. Ms. Scollon has had a longstanding dedication to the care of children and families affected by cancer. She is an advocate for the incorporation of genetic counseling into pediatric cancer care. She works to educate others on the role genomics and precision oncology can play in the care of patients with pediatric cancer and their families both from a clinical and psychosocial standpoint. Her research interests engage the overarching themes of (1) pediatric cancer predisposition and precision oncology (2) optimization of patient-provider communication and education and (3) adaptation of genetic counseling practice for implementation of evolving technologies for care of pediatric cancer patients.

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

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Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Navigating child heart failure and mitochondrial disease. Dr. Heather Gatcombe shares her personal journey as a physician and mother navigating the complexities of mitochondrial disease and heart failure in her son. She discusses the challenges of diagnosis, the emotional toll of medical crises, and the journey through heart transplant. Dr. Gatcombe emphasizes the importance of understanding mitochondrial disease, the role of advocacy, and the potential future of mitochondrial medicine, including the impact of new treatments and the need for continued support and awareness.

Key Takeaways:

Dr. Heather Gatcombe is the mother of a child with mitochondrial disease and is on the Board of Trustees of the United Mitochondrial Disease Foundation and the Board of Directors of Enduring Hearts. She is an assistant professor at Emory University School of Medicine. The views expressed here are her own and do not represent those of Emory University.

https://www.linkedin.com/in/heather-gatcombe-md-3891875/

https://www.instagram.com/heathergatcombe/

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

Here are more resources related to today’s topic:

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Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.