All Access DNA

Is Parkinson's Disease genetic?

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:
Parkinson's disease is a neurodegenerative disorder affecting movement.
The causes of Parkinson's are multifactorial, involving genetics and environment.
Genetic testing can identify variants that increase the risk of Parkinson's.
Everyone has a background risk for developing Parkinson's disease.
Diversity in research helps understand genetic differences across populations.
Language access in genetic counseling improves patient understanding and care.
Community outreach is essential for increasing participation in research.
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.
Here are more resources related to today’s topic:
Findageneticcounselor.org
Breaking Barriers: Advancing Genetic Counseling for Parkinson’s in Latin America by Priscila D. Hodges
Parkinson's Foundation
The Michael J. Fox Foundation for Parkinson’s Research
World Parkinson Coalition
World Parkinson Congress 2026
Interview with Dr. Ignacio Mata about the Latin American Research consortium on the Genetics of Parkinson’s Disease (LARGE-PD)
Information on PD GENEration research study 
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.

Are eye color and vision hereditary?

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:
Ophthalmologic or ocular genetics explores how genes affect eye health.
Inherited conditions can be complex and multifactorial.
Blindness and vision loss vary greatly among individuals.
Eye color inheritance is influenced by multiple genes.
Gene therapy shows promise for treating inherited eye conditions.
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:
Findageneticcounselor.org to search for a genetic counselor near you
Hereditary Ocular Disease from Research to Prevent Blindness
Retinitis Pigmentosa from American Academy of Ophthalmology
Parts of the Eye and How We See
 
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. 

Cancer & Chemo: Could DPYD testing save lives?

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 became an advocate after her mother's death due to DPD deficiency.
DPD deficiency can lead to severe toxicity from chemotherapy drugs like 5-FU.
DPYD is the gene that produces the DPD enzyme, and mutations in DPYD can lead to DPD deficiency.
About 3-8% of people have a DPYD mutation.
There is a push for standardizing DPD/DPYD testing in the U.S. healthcare system.
Knowledge about DPYD status can prevent severe drug toxicity.
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.orgWe are also on LinkedIn and Facebook as Advocates for Universal DPD/DPYD Testing.X and instagram: test4dpd
 
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:
Why Don’t U.S. Guidelines Recommend DPYD Testing Before Chemotherapy? By Ellen Matloff for Forbes
Advocates for Universal DPD/DPYD Testing or AUDT
Additional information on DPD Deficiency from MedlinePlus
Safety announcement: FDA highlights importance of DPD deficiency discussions with patients prior to capecitabine or 5FU treatment
Information on Mayo Clinic Lab DPYD Full Gene Sequencing Test
Dr. Anil Kapoor’s death after 5-FU
Oregon Health & Science University Lawsuit
Fight Colorectal Cancer Cancer Care Sequences®
Listen to Episode 10-When is rare disease not so rare? to learn more about genetic discrimination and GINA
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. 

Should I delete my 23andMe data?

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:
23andMe's bankruptcy raises concerns about customer data.
New ownership of 23andMe or its data could change how genetic data is used.
Security breaches pose significant risks to genetic data.
Global laws on data privacy vary significantly.
Understanding personal values is crucial in data sharing decisions.
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:
Press Release from 23andMe about Voluntary Chapter 11 Initiation
23andMe Privacy Information
California Attorney General Consumer Alert 23andMe
HIPAA Information from US Department of Health and Human Services
SNP genotyping: technologies and biomedical applications
Article from Slate on GEDMatch being Acquired by Verogen
Article from BBC News on 23andMe Profiles Being Hacked
What is GDPR from gdpr.edu
 
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. 

Colon cancer: What is Lynch syndrome?

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’s foundation for Lynch syndrome is Alive and Kick’n
Lynch syndrome increases the risk of multiple cancers, not just colon cancer
Regular screenings are crucial for early detection of colon cancer
Genetic testing can identify hereditary cancer risks
Lynch syndrome is often underdiagnosed due to lack of awareness
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,.
Episode 12- Who has surgery to prevent colon cancer? On familial adenomatous polyposis or FAP
AliveandKick’n Website
More information on Lynch syndrome from the American Cancer Society
Colorectal cancer facts and statistics from Colorectal Cancer Alliance
Microsatellite stability and Microsatellite instability from the Global Colon Cancer Association
“New vaccine may help stop return of certain colorectal, pancreatic cancers” from Medical News Today
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. 

Can someone own my genes?

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: 
There is a need for experts who have a legal understanding in genetics.
The BRCA gene patent impacted testing costs and test availability.
Ellen faced significant pushback and resistance for her advocacy.
The ACLU and Association of Molecular Pathology (AMP) played a crucial role in bringing the case to court.
Research on BRCA genetics increased after the patent was overturned.
Ellen’s persistence in advocacy was driven by patient needs.
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.
Here are more resources related to today’s topic:
AMP v. Myriad: The Fight to Take Back Our Genes from ACLU
Direct to Confusion: Lessons Learned from Marketing BRCA Testing by Ellen Matloff and Arthur Caplan
Current legislation on the Patent Eligibility Restoration Act or PERA, which could allow for gene patents to return
Review on “The Genome Defense by Jorge L. Contreras” from FORCE
*Update- Sam Raha will be the new CEO of Myriad Genetics starting in April 2025.
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. 

Who has surgery to prevent colon cancer?

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:
Attenuated FAP is a hereditary condition linked to colon cancer.
Dan's military background has helped him adapt to his health challenges.
Dan aims to educate future medical professionals about hereditary cancer.
He advocates for silencing the stigma surrounding ostomy living.
He encourages others to embrace their health journeys without shame.
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:
United Ostomy Association of America, ostomy.org
NIH page on Attenuated Familial Adenomatous Polyposis
Information on the APC gene from FORCE
Colorectal Cancer Alliance
Findageneticcounselor.org
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. 

What is prenatal genetic testing?

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
Advanced maternal age is defined as 35 years and older, but the risks are not as clear-cut as once thought.
Screening tests provide probabilities, while diagnostic tests aim for definitive answers.
CVS and amniocentesis are the primary methods for prenatal diagnostic testing.
The accuracy of CVS and amniocentesis is high, but not 100%. Both tests have a risk for miscarriage, which can be less than 1% but is dependent on the clinic.
The context of ultrasound findings is crucial in interpreting genetic test results.
Patients have the ultimate choice regarding prenatal diagnostic testing.
Diagnostic testing serves multiple purposes beyond termination decisions.
Access to genetic testing can be inequitable for some patients.
The psychosocial component of genetic counseling is vital.
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:
Practice Bulletin on Prenatal Diagnostic Testing for Genetic Disorders from the American College of Obstetricians and Gynecologists
Information on prenatal genetic diagnostic tests from the American College of Obstetricians and Gynecologists
“Chromosomal Mosaicism: Origins and Clinical Implications in Preimplantation and Prenatal Diagnosis” by B Levy, E Hoffman, RC McCoy, & FR Grati, 2022. Prenatal Diagnosis.
Episode 3 - Do I need prenatal genetic screening?
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. 

When is rare disease not so rare?

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
CADASIL is an inherited genetic condition that is autosomal dominant, meaning if someone has CADASIL there is a 50% chance their child will have the condition
Recent studies suggest CADASIL may be much more prevalent than previously thought.
The classification of diseases as rare may not reflect their actual prevalence.
Genomic studies can reveal underdiagnosed conditions like CADASIL
Research on rare diseases can provide insights into common conditions.
Healthcare for pre-vivors varies significantly based on the condition.
Genetic discrimination remains a significant concern and protections for insurance are limited
Finding a provider who listens and collaborates is vital.
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:
What is CADASIL? https://www.ninds.nih.gov/health-information/disorders/cadasil
NORD
Genetic Alliance
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
Psychological impact of genetic testing for Huntington’s disease: an update of the literature
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. 
 

How does family history shed light on sudden cardiac death?

In this conversation, Dr. Susan Weiss Liebman discusses her memoir, 'The Dressmaker's Mirror,' which intertwines her personal journey with a genetic search for a mutation linked to her niece's sudden death. She emphasizes the importance of genetic testing, the cultural heritage of her Jewish family, and the challenges faced in communicating genetic information to family members. We delve into the importance of genetic testing, particularly in relation to cardiomyopathy and other heart conditions. Dr. Liebman emphasizes the need for education among healthcare providers and the role of genetic counseling in improving patient outcomes.
Key Takeaways:
Family dynamics can complicate the sharing of genetic information
Family communication about health history is essential
There is a significant gap in awareness of hereditary cardiac conditions among healthcare providers
Regular follow-ups after genetic testing are needed as knowledge evolves
DNA banking can be a valuable resource for future genetic testing
Dr. Liebman is a trailblazing molecular geneticist who uses yeast as a model organism to study prions and human protein misfolding diseases such as ALS and Alzheimer’s. Her research also extends to the prion form of the cancer gene p53. With over 100 publications in leading journals, including Nature, Science, and Cell, and more than $13 million in research funding, her contributions to the field are substantial. Susan began her scientific journey as one of MIT’s early female undergraduates (B.S. 1968) and went on to earn advanced degrees from Harvard (M.S. 1969) and the University of Rochester (Ph.D. 1974) medical schools. In addition to her research, she taught genetics to undergraduate and graduate students for more than 35 years. 
In the wake of her 36-year-old pregnant ​niece’s sudden collapse and death, ​Susan embarked on a frantic search for ​answers. The hunt culminated in the discovery ​of a previously unknown heart disease gene ​and an Ashkenazi Jewish mutation within it. ​Against this backdrop, Liebman's The ​Dressmaker's Mirror: Sudden death, genetics, ​and a Jewish family's secret, intertwines ​heartfelt stories of generations of love, loss, ​and resilience, with insights into genetics and ​the ongoing genetic revolution. By touching ​hearts and minds, the book offers a compelling ​call to action, guiding readers of all ethnicities ​how to use the frequently overlooked tool of ​genetic testing to safeguard their families’ ​health and save lives.
Find Dr. Liebman’s book HERE and learn more about the book by checking out the book trailer and visiting www.SusanWLiebman.com
Please rate and 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, dilated cardiomyopathy.
Check out Greg Ruf’s episode- Should I consider genetic testing for dilated cardiomyopathy?
DCM Foundation
Implications of Genetic Testing in Dilated Cardiomyopathy
Find a Cardiomyopathy Specialist
Genetic Cardiomyopathy Awareness Consortium
Global Heart Hub for non-US residents
The American College of Medical Genetics and Genomics (ACMG) SF v3.2 list for reporting of secondary findnigs in clinical exome and genome sequencing:
https://pmc.ncbi.nlm.nih.gov/articles/PMC10524344/
Any inquiries on this 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.