“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:

• Genetics for Healthcare podcast aims to educate people about genetic information
• There is a gap in the US for patient access to precision medicine
• Personal experiences are motivation for healthcare advocacy
• Technology can improve access to precision medicine
• Patient education is crucial for informed healthcare decisions
• Genetics should be a routine part of healthcare conversations

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

Here are more resources related to today’s topic:

• Genetics for Healthcare: A Podcast for Patients

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

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:

• BRCA1 and BRCA2 mutations can affect both men and women.
• Men often overlook the importance of family history in cancer.
• Family communication about genetic results is essential.
• Many men are less likely to pursue genetic testing than women.
• Research in male cancer genetics is lagging behind.
• Diverse populations are underrepresented in genetic research.

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

Here are more resources related to today’s topic:

• Findageneticcounselor.org to search for a genetic counselor near you
• HIS Breast Cancer Awareness
• The Prostate Cancer Foundation
• Resolve: The National Infertility Association

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

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:

• EDS is a connective tissue disease with various types.
• Joint dislocations are common in individuals with hypermobile EDS.
• There is no specific genetic test for hypermobile EDS.
• Exercise is extremely helpful but must be tailored to the individual..
• Support groups provide valuable resources and community for EDS patients.
• Ongoing research is essential for understanding EDS better.

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

Here are more resources related to today’s topic:

• The Ehlers Danlos Society
• Information on hEDS from the Marfan Society
• American Academy of Family Physicians handout from 2021
• The Norris Lab at MUSC

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

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:

• About 8 to 18 percent of kids with cancer have genetic mutations.
• Tumor testing focuses on mutations in the tumor itself.
• Germline testing looks at inherited genetic changes.
• Genetic testing can lead to tailored surveillance plans.
• Informed consent is crucial in genetic testing discussions.
• Cascade testing can benefit family members of affected children.
• The landscape of genetic testing is rapidly evolving.
• Access to care and psychosocial support are vital for families.

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

Here are more resources related to today’s topic:

• Sarah Scollon’s Contact Info and Published Papers
• Findageneticcounselor.org to search for a genetic counselor near you
• Pediatric Oncology Series- includes recommendations
• American Association for Cancer Research- Childhood Cancer Awareness page

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

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:

• Mitochondrial disease can be difficult to diagnose due to its varied presentation.
• Heart failure in children can arise from mitochondrial dysfunction.
• Transplantation is a complex process that requires a multidisciplinary approach.
• Post-transplant care involves managing potential complications and medication side effects.
• Advocacy is crucial for rare diseases to ensure access to necessary treatments.
• New medications can significantly improve the quality of life for patients with mitochondrial disease. And one of these medications is at risk of being discontinued meaning more people going back on the heart transplant list.

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:

• Join the fight for Elamipretide and ask FDA to approve now!
• United Mitochondrial Disease Foundation
• Mito Action- a patient advocacy group
• MitoCanada
• Mito Foundation in Australia
• Transplant Families- resources and support for families navigating pediatric transplantation
• Enduring Hearts

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

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.

Neurodiversity advocacy and a genetic condition associated with autism. In this conversation, Jacalyn Lee shares her journey into advocacy, driven by her experiences as a mother of a child diagnosed with DEAF1 Associated Neurodevelopmental Disorder (DAND). She discusses the emotional complexities of receiving a diagnosis, the importance of community support, and the establishment of the DAND Alliance to raise awareness and promote research. Jacalyn emphasizes the critical role of genetic testing in understanding neurodevelopmental disorders and offers resources for families navigating similar challenges. The conversation concludes with key takeaways on advocacy, awareness, and the importance of checking in on friends in the neurodivergent community.

Key Takeaways:

• The journey of receiving a diagnosis involves complex grief.
• Community support is vital for families with children who are neurodivergent
• The DAND Alliance aims to raise awareness and promote research.
• Awareness and education can change lives for families.
• Trusting your instincts can be important in advocating for your child.

Jacalyn Lee is a neurodiversity advocate, drawing from her personal journey as a mother to a child with an ultra-rare genetic condition called DEAF1 Associated Neurodevelopmental Disorder (DAND). After her daughter’s DAND diagnosis, Lee became credentialed as a Non-Attorney Special Education Advocate and launched The Atypical Advocate, a Substack newsletter that shares the complexities—and joys!—of raising a neurodivergent child with complex medical needs. Lee currently leads efforts to advance awareness and critical scientific research for DAND through The DAND Alliance, the nonprofit she founded.

Lee believes in the power of storytelling to drive awareness, inclusion, and systemic change. It is through her writing that Lee aims to provide practical resources, community, and emotional support for parents, while fostering greater understanding and empathy for neurodivergent families and their atypical families.

As a speaker, Lee is frequently invited to share insights on creating neuro-affirming communities, speaking with children about autism, navigating the early days of a disability diagnosis, and more. From hospitals and universities to media outlets and The Atypical Advocate, she weaves personal experience with actionable guidance to help families feel less alone and more empowered.

In addition to her advocacy work, Lee has more than 20 years of experience in architecting communications strategy for iconic global and startup brands in the consumer tech, media, ecommerce, and wellness industries, including Equinox Media, The Knot, Care.com, and Gopuff. Her professional background has honed her ability to build meaningful connections and amplify important messages—skills she now channels into her mission to champion neurodiversity.

Jacalyn Lee lives in New York with her husband and three children.

• Learn More About DAND + Donate: www.thedandalliance.org
• Follow The DAND Alliance on Instagram: @thedandalliance
• Read The Atypical Advocate: theatypicaladvocate.substack.com
• Follow The Atypical Advocate on Instagram: @theatypicaladvocate

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:

• The Atypical Advocate, Jacalyn’s Substack
• The DAND Alliance
• Simons Searchlight
• Findageneticcounselor.org to search for a genetic counselor near you
• Episode 27- Is autism genetic?

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

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.

How does genetics influence individual responses to medications and what is pharmacogenomics? Jeri explains the significance of pharmacogenomic testing in personalizing medication management, highlighting its potential to improve patient outcomes and reduce adverse effects. Through real patient stories, the discussion emphasizes the importance of genetic information in prescribing practices and the challenges faced in integrating pharmacogenomics into routine healthcare. We talk about how pharmacogenomics can help in prescribing medications for pain, depression, and acid reflux as well as other conditions.

Key Takeaways:

• Pharmacogenomics is the study of how genetics affect medication response.
• Genetic testing can lead to more effective and safer medication prescriptions.
• Genetic information can help avoid severe side effects from medications.
• Pharmacogenomic testing can reduce the trial-and-error approach in medication management.
• Pharmacogenomics has the potential to save lives and healthcare costs.
• The future of pharmacogenomics looks promising but faces integration challenges.

As a pharmacogenomics expert, Jeri Nichols blends over two decades of experience as a pharmacist and genetic counselor to revolutionize personalized medicine. Jeri founded GenePharmer, LLC in 2021, a consulting practice that empowers patients with safer, more effective medication regimens, and often reduces reliance on unnecessary drugs. Throughout her career, her individualized approach, rooted in listening to patients and leveraging genetic insights, has improved countless lives across private practices, medical centers, genetics labs, and community pharmacies. A passionate educator, Jeri advances PGx through lectures for students and presentations at professional healthcare meetings. Jeri invites patients and providers to explore PGx at genepharmer.com, where she is cultivating better health, one genome at a time. You can also connect with GenePharmer on LinkedIn or Facebook.

genepharmer.com

facebook.com/GenePharmerLLC

linkedin.com/company/genepharmer-llc

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:

• Findageneticcounselor.org to search for a genetic counselor near you
• CPIC guidelines
• Episode 16, Cancer & Chemo: Could DPYD testing save lives?
• Jeri’s company, GenePharmer, LLC

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

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.

It is a podcast crossover with It Happened to Me: A Rare Disease & Medical Challenges Podcast! It Happened to Me is also part of the Gene Pool Media Network

In this podcast, patient advocates Cathy Gildenhorn and Beth Glassman share their medical challenges living with rare diseases and are joined by fellow advocates and experts on the show.

For this episode, Beth Glassman interviews her co-host Cathy Gildenhorn about her rare disease, Wolfram Syndrome.

Co-host Cathy Zacks Gildenhorn has devoted much of her life to improving the lives of others and connecting women to Jewish life and each other. She has served on several local, national and international boards. Cathy also served as presidential appointee to the United States Holocaust Memorial Council and worked on the opening of the museum. Currently, Cathy serves as editor in chief and designated spokesperson for the book, Redefining Moments: End of Life Stories for Better Living. Several years ago Cathy was diagnosed with a rare, genetic disease. Since then she has passionately dedicated her life to creating this supportive and inspiring podcast so that all in the medically challenged community know…You are Not Alone.

On This Episode We Discuss:

• Defining Wolfram Syndrome

• Frequency of Wolfram Syndrome

• Cathy’s Diagnostic Odyssey

• Symptoms of Wolfram Syndrome

• Current Wolfram Syndrome Treatments

• Research for Wolfram Syndrome

• Cathy’s prognosis

• Processing diagnosis

• CRISPR potential treatment

You can find other episodes of It Happened To Me! on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.

It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. Steve Holsonback is our media engineer and co-producer. DNA Today’s Kira Dineen is our marketing lead and co-producer. Ashlyn Enokian is our graphic designer.

About All Access DNA Podcast

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

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

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.