All Access DNA

In this conversation, Kevin Alexander shares his personal journey living with PKU (phenylketonuria) and his passion for newborn screening advocacy. He discusses the importance of dietary therapy, the challenges of navigating insurance coverage for treatment, and the critical role of newborn screening in early detection. We discuss the recent policy changes enacted without warning by the current administration and how that impacts newborn screening practices. Kevin shares personal stories and experiences that highlight the need for advocacy and community involvement in maintaining and improving the newborn screening system. 

Key Takeaways:

Kevin Alexander is an adult living with PKU. He's also a filmmaker, and since 2012 has been traveling the world as a PKU, newborn screening, and rare disease advocate. He's a volunteer for the National PKU Alliance, an advocate with the Louisiana Metabolic Disorders Coalition, and a member of the International Society of Neonatal Screening.

You can find him online at:

IG: @kevinalexander_pku

FB: www.facebook.com/pkujournal

LinkedIn: www.linkedin.com/in/kevinalexander/

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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. 

In this conversation, Priscila discusses Parkinson's disease, its genetic and environmental factors, and the role of genetic counseling. She highlights the PD Generation study, which aims to increase awareness and understanding of Parkinson's disease, particularly in diverse communities. Priscila emphasizes the need for inclusive research and the role of language access in genetic counseling, sharing her personal motivations for advocating for better access to care and information for all individuals affected by Parkinson's disease.

Key Takeaways:

Priscila D. Hodges joined Indiana University School of Medicine in May 2020. She earned her master’s degree in Genetic Counseling from Northwestern University in 2015 and has nearly a decade of experience in bilingual prenatal genetic counseling within multicultural settings. Currently, Hodges offers bilingual genetic counseling to participants in Parkinson’s disease research, ensuring culturally sensitive care. As a passionate advocate for outreach in the Hispanic/Latine community, she plays a vital role in expanding access to genetic services and increasing research participation, striving to bridge healthcare gaps and enhance representation for underserved populations within the Parkinson’s community.

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

Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.

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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.

In this conversation, Naomi Wagner (she/her) discusses the intersection of ophthalmology and genetics, focusing on how genes influence eye development and diseases. She explains the complexity of inherited eye conditions, particularly retinitis pigmentosa, and the ongoing research in ocular genetics. The discussion also explores the inheritance of eye color and the importance of understanding vision impairment in society.

Takeaways:

Naomi Wagner is a licensed, board-certified genetic counselor specialized in ophthalmology and rare disease. She currently works as a clinical and research genetic counselor at UC San Diego Health, where she sees patients at both the Shiley Eye Institute and the Center for Bleeding and Clotting Disorders. Naomi is also owner and founder of Wagner Genomics, LLC, through which she does consulting work related to gene-based therapies and clinical trials. Naomi is an active member of several ClinGen groups, including the Retina Gene Curation Expert Panel and the ABCA4, RHO, and Maculopathy Variant Curation Expert Panels. She co-hosts the podcast DNA Dialogues, the official podcast of the Journal of Genetic Counseling. Naomi received her Master of Science from Boston University and her Bachelor of Arts from Pomona College. You can find her on socials under the handle @Naomi_CGC.

Please subscribe to this podcast on Apple Podcasts, Spotify, 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

Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.

Here are more resources related to today’s topic:

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. 

In today’s episode, Karen Merritt shares her personal journey of advocacy for DPD deficiency awareness following her mother's tragic experience with chemotherapy. The discussion delves into the importance of genetic testing for DPYD mutations before administering certain chemotherapy drugs, the challenges in raising awareness among healthcare professionals, and ongoing advocacy efforts to include DPYD testing in national guidelines. The conversation highlights the critical need for patient education and informed decision-making in cancer treatment as well as updates in guidelines to ensure patient safety.

Takeaways:

Karen Merritt is a passionate and dedicated patient advocate who turned her personal tragedy into a mission to save lives. After losing her mother in 2014 due to fatal toxicity from her first infusion of 5-FU chemotherapy, a result of not being tested for DPD (dihydropyrimidine dehydrogenase) deficiency beforehand, Karen committed herself to raising awareness about the importance of pretesting for DPD deficiency before the administration of fluoropyrimidine-based chemotherapy.  Karen is a founding member of Advocates for Universal DPD/DPYD Testing (AUDT), an organization focused on promoting mandatory pretesting to ensure patient safety and prevent chemotherapy-induced toxicities & fatalities. She actively engages with healthcare professionals and institutions to emphasize the need for personalized cancer care that includes pretreatment DPD testing.   In addition to her work with AUDT, Karen serves as a Patient Representative for ClinGen PGx Working Group and the Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Collaborative Community. Her role in these groups reflects her commitment to improving clinical practices and standardizing testing protocols for better patient outcomes.

Non-profit website is www.test4dpd.org

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

Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.

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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. 

In today’s episode, we explore the complexities of genetic data privacy, particularly in light of 23andMe's recent bankruptcy filing. Anya Prince discusses the implications for customer data, the legal protections in place, and the unique risks associated with genetic information. The discussion also covers the challenges of data de-identification, customer rights regarding data deletion, and the potential for data breaches. The conversation concludes with reflections on the global landscape of genetic data privacy and the importance of understanding personal values in relation to data sharing.

Key Takeaways:

Anya Prince, Professor of Law, Joseph F. Rosenfield Fellow in Law

Professor Prince’s teaching and research interests explore health and genetic privacy, with a particular focus on genetic discrimination, the health privacy implications of big data, and the ethical, legal, and social implications of genomic testing. Her research particularly explores the intersections of social and biological data by interrogating the ethical and legal implications of how genetic data can be used to predict social traits and behaviors and, conversely, how social data can be used to predict medical information, including reproductive information. Her interdisciplinary work has been published in legal, bioethics, and medical journals, including the Boston College Law Review, North Carolina Law Review, Iowa Law Review, JAMA, the American Journal of Bioethics, Journal of Law, Medicine, and Ethics, and Genetics in Medicine.

In 2022, she was awarded a four-year R01 grant from the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) to study the ethical, legal, and social implications of sociogenomic polygenic scores. In 2023, she was awarded a Bridging Bioethics, Research & Policymaking grant from the Greenwall Foundation to develop resources regarding state-level genetic privacy legislation. In addition to these grants, Professor Prince is an investigator, consultant, or advisory board member on multiple other NIH-funded projects. She had previously been awarded a Pathway to Independence Award (K99/R00) from NHGRI to examine the use of genetic information by life, long-term care, and disability insurers.

Professor Prince is a former Visiting Assistant Professor of Law at Indiana University’s Robert H. McKinney School of Law, where she taught Employment Law and Genetics and the Law. Before joining the legal academy, she served as a Post-doctoral Research Fellow at the UNC Center for Genomics and Society (CGS) in the Department of Social Medicine at UNC-Chapel Hill School of Medicine. Professor Prince has also worked as a Skadden Fellow and Staff Attorney at the Cancer Legal Resource Center in Los Angeles, California.

You can follow her @anyaprince.bsky.social

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

Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.

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. 

In this episode of All Access DNA, Dave Dubin discusses his foundation, Alive and Kick’n, which he started after being diagnosed with Lynch syndrome. He explains the importance of awareness and advocacy for Lynch syndrome, a hereditary condition that increases the risk of colon and other cancers. The discussion covers the differences between sporadic colon cancer and hereditary forms, the significance of genetic testing, and the personal journey of dealing with cancer at a young age. Dave emphasizes the need for proactive screening and the role of advocacy in improving awareness and support for those affected by Lynch syndrome. Dave shares his journey with Lynch syndrome, discussing the implications of genetic testing for himself and his family. 

Key Takeaways:

Dave Dubin is the co-founder of AliveandKick’n Lynch Syndrome Foundation. You can follow @Aliveandkickndd on Instagram and Bluesky. The views, opinions, and experiences expressed in this interview are Dave’s and not on behalf of his employer.

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

Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.

Here are more resources related to today’s topic,.

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. 

In this conversation, Ellen Matloff, a certified genetic counselor and CEO of My Gene Counsel, discusses the implications of gene ownership and patents, particularly focusing on the BRCA gene patent case against Myriad Genetics. She shares her journey from being a cancer genetic counselor to becoming an individual plaintiff in the gene patent case. We discuss the challenges faced in the legal battle and the impact of the Supreme Court's decision in 2013. The discussion highlights the importance of access to genetic testing, the intersection of law and genetics, and the implications of gene patents for research and innovation in the field.

Takeaways: 

Ellen T. Matloff, MS, CGC is a certified genetic counselor and the CEO of My Gene Counsel, a digital health company that provides scalable, updating genetic counseling solutions for health systems, research studies, pharma and data partners. Wondering how to keep all of your past patients with + or VUS findings up to date? mGC is your answer. Matloff founded the Yale Cancer Genetic Counseling program, served as its director and a faculty member at Yale School of Medicine for 18 years, and was an individual plaintiff in the 2013 SCOTUS BRCA gene patent case. She serves as the Forbes.com contributor on genetic counseling, genetic testing, and digital health.

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

Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.

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*Update- Sam Raha will be the new CEO of Myriad Genetics starting in April 2025.

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. 

In this episode, Dan “Dry Dock” Shockley shares his journey with attenuated familial adenomatous polyposis (AFAP), a hereditary condition that increases the risk of colon cancer. He discusses the discovery of his condition, the importance of genetic counseling, and his proactive approach to managing his health. Dan emphasizes the importance of advocacy, education, and the need to destigmatize living with an ostomy. He talks about the role of humor and resilience in facing health challenges and highlights his commitment to educating medical professionals about rare diseases. His mantra, 'Always forge ahead with a purpose,' encapsulates his approach to life and advocacy.

Takeaways:

Dan is a retired Navy, Operation Desert Storm, Enduring and Iraqi Freedom veteran. He is a 13 year hereditary colon cancer syndrome WARRIOR. Dan was diagnosed with attenuated FAP, Variant c.2252.del, after his first and only colonoscopy at age of 51, and he was asymptomatic with no family history. Dan is a live-case presentation for the Stanford School of Medicine, Molecular Foundations of Medicine course and Stanford MS Program. He is also a virtual live-case presentation for the Harvard Medical School, Genomes2People Research Program and a patient advocate for the American Society of Clinical Pathology (ASCP).

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

Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.

Here are more resources related to today’s topic:

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. 

In this episode of All Access DNA, we talk to Samantha Stover, a reproductive genetic counselor, about prenatal diagnostic testing. We discuss Sam’s journey into genetic counseling, and the differences between screening and diagnostic testing methods such as chorionic villus sampling (CVS) and amniocentesis. The conversation also touches on the conditions that can be detected through these tests and the benefits, risks, and limitations of genetic testing. Sam emphasizes the importance of informed consent, patient autonomy, and the emotional challenges faced by patients. She discusses the variability in insurance coverage and the necessity of understanding each patient's unique situation. 

Key Takeaways

Samantha Stover is a Reproductive Genetic Counselor in the Division of Maternal Fetal Medicine and Assistant in Obstetrics and Gynecology at Vanderbilt University Medical Center. She has a Bachelor’s of Science in Zoology from North Carolina State University and a Master’s of Science in Genetic Counseling from The University of Alabama at Birmingham School of Health Professions. She received her board certification from the American Board of Genetic Counseling in 2014. Sam has over a decade's experience providing counseling for patients across the reproductive genetics arc, and strongly believes that reproductive autonomy is a core value of the field. As a female genetic counselor with narcolepsy and cataplexy, she lives the intersection of disability rights, genetics, and reproductive autonomy.

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

Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.

Here are more resources related to today’s topic:

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. 

In this conversation, Susanna Smith shares her personal experience with CADASIL. The discussion explores the evolving definitions of rare diseases, the importance of accurate classification, and the implications for research and treatment. We cover how insights from rare diseases can inform our understanding of more common conditions. Susanna discusses the complexities of living as a 'previvor'—someone at risk for genetic conditions without symptoms. She explores the emotional and practical implications of genetic testing, the challenges of navigating healthcare and insurance, and the importance of patient advocacy. Susanna also shares insights from her podcast, 'Genetic Frontiers,' which delves into the multifaceted impact of genetic information on society.

Key Takeaways

Susanna J. Smith, MPH, is the founder & host of Genetic Frontiers, a podcast about the promise, power, and perils of genetic information. As a journalist and researcher, she writes about the future of medicine, genetics, and technology in healthcare. She is also a previvor of a rare, genetic disease and working on a book project about negotiating the healthcare system as a previvor. Connect with her at geneticfrontiers.org or on LinkedIn @GeneticFrontiers.

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

Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.

Here are more resources related to today’s topic:

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.