All Access DNA

Replay- A patient and a physician: How is hEDS diagnosed?

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.

How do I know if something is safe during pregnancy?

Teratogens. Medications. Infections. Safe in Pregnancy. In this conversation, we explore the safety of exposure to certain things during pregnancy such as alcohol, beauty products, and yes even Tylenol. We learn more about how an agent or exposure is evaluated as being teratogenic as well as resources for pregnant individuals with questions.
 
Key Takeaways:
Teratogens refers to an exposure (drug, chemical, infection, radiation, or substance) that can interfere with growth or development of an embryo or fetus. 
Every pregnancy has a background risk of 3% for birth defects, unrelated to exposures or family history.
The timing, dosage, and other risk factors play a role in the impact of a potential teratogen.
It’s crucial to differentiate between correlation and causation in studies.
Pregnant individuals should consult healthcare providers about medication use.
 
Nevena is a board certified genetic counselor and an assistant professor at the University of South Florida (USF), division of Maternal Fetal Medicine and serves as the Program Coordinator and Teratogen Information Specialist at MotherToBaby Florida. In addition to providing exposure counseling at MTB Florida and USF Exposures Clinic, she provides prenatal and preconception genetic counseling in various clinics across the Tampa Bay area. Nevena is the Associated Program Director and provides both clinical supervision and coursework instruction for students form the USF Genetic Counseling Program. Nevena earned her MS in Genetic Counseling from the University of Texas Health Science Center in Houston in 2012. She is the president elect of Organization of Teratogen Information Services (OTS). The views and opinions shared on the podcast are her own and do not represent those of her 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
 
Here are more resources related to today’s topic:
Findageneticcounselor.org to search for a genetic counselor near you
Birth Defects Registry & Prevention
Mother to Baby website
Human Teratogens course 
 
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.

Cancer and privacy: What are the risks for transgender individuals?

Transgender and gender diverse cancer care, privacy, community safety. On this episode of All Access DNA, we talk to Dr. Mittendorf about hereditary cancer considerations for people who are transgender and gender diverse. We discuss management guidelines, cancer risks and how knowing hereditary cancer risk may inform medical decisions. The conversation also delves into the significant concerns surrounding the privacy of medical data for transgender individuals. It highlights the fear of being identified as trans in medical records and the potential repercussions of such identification, especially in light of recent legal actions involving healthcare providers. 
 
On This Episode We Discuss:
The ways gender affirming care can be impacted by hereditary cancer risk.
The effect of gender dysphoria in making medical decisions.
Hormone therapy (HRT) and cancer risk
Privacy concerns are heightened for the transgender community.
Recent instances have raised alarms about data security in healthcare.
Community safety is a significant concern related to medical data.
There is a need for better protections for sensitive health information.
 
Dr. Mittendorf is an interdisciplinary scientist whose current research focuses on translational genomics and cancer care delivery, especially as it impacts populations with reduced access to care. They have extensive experience in genomic evidence synthesis, data modeling, web application development, community-driven research design, implementation science, and genomic applications in care delivery. They have cross-disciplinary training that covers epidemiology, qualitative research, bioethics, and informatics. Their PhD in biochemistry, with a focus on molecular biophysics, gives them a unique foundation to understand the molecular mechanisms at play in the setting of clinical genomics.
 
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:
Dr. Mittendorf’s website that includes links to research and resources
CHESTcare website- CHESTcare stands for Cancer & Hereditary Risk Education & Support for Transgender & Nonbinary Individuals. CHESTcare is a resource for people who have had or are planning “top” surgery (gender-affirming mastectomy) or are taking or planning to take testosterone. Our goal is to empower you to make informed decisions about your health and cancer risk.
YouTube video on Screening, prevention and gender affirming care for transgender people with mutations
Hereditary cancer care for transgender and nonbinary people from FORCE
Episode 6- How accessible is genetic testing? With Deanna Darnes
Episode 19- Is cancer genetic? With Barry Tong
Episode 26- Does genetics influence sex and gender? With Kim Zayhowski
 
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 does it really mean to grow up with Spina Bifida?

Patient zero, memoir, understanding. In this conversation, Steven Crane shares his personal journey living with spina bifida, discussing the challenges he faced from birth through adulthood. He reflects on the support from his family, the medical treatments he underwent, and the impact of his condition on his life. Steven emphasizes the importance of advocacy, understanding, and resilience, and how he found purpose through writing about his experiences. He also addresses the complexities of navigating multiple health conditions and the role of healthcare providers in supporting patients.
 
Key Takeaways:
Spina bifida is a multifactorial condition with varying degrees of impact.
Advocacy for oneself is essential in navigating healthcare.
Writing can be a therapeutic outlet for personal experiences.
Being a patient zero can be both a burden and a responsibility.
Empathy and understanding from healthcare providers can significantly affect patient outcomes.
There are often hidden blessings in challenging circumstances.
Community and shared experiences can foster healing and connection.
 
Steven Crane is the author of the memoir "I Can Appreciate That", the novel "Staring at the Ceiling", numerous essays, and more than a million words of advertising copy. A graduate of the University of South Carolina, Steven lives in Marietta, GA, with his wife Carie. Their two sons are navigating college at University of GA and GA Southern. More at: www.brainsofsteel.com.
Facebook.com/ICATStory
Instagram: @icanappreciatethat
 
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:
Steven’s website
Purchase “I Can Appreciate That”
Information on Spina Bifida from Mayo Clinic
Spina Bifida 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.

How does someone tell the story of genetic risk?

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:
Poetry allows for flexibility in expressing complex emotions.
Language can create a sense of community but also exclusion.
Grief is a central part of living with a genetic condition.
Precision medicine must consider the holistic care of patients.
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
 
Here are more resources related to today’s topic:
Sarah’s website 
Synapsis: A Health Humanities Journal
Tendon Magazine
Episode 19- How does genetics impact cancer? With Barry Tong
 
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.

Can a DNA test help your heart health?

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:
Having early onset heart disease of any kind is not normal.
Early onset is defined as less than age 60.
Severely elevated cholesterol, especially if it runs in families, is concerning.
Onset of heart disease during or soon after pregnancy is a red flag.
Thoracic aortic aneurysm at any age should not be ignored.
Over 95% of people who have a genetic heart condition have not had genetic testing.
Hereditary cardiac disease is underdiagnosed.
Proactive health management can save lives.
 
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
 
Here are more resources related to today’s topic:
Findageneticcounselor.org to search for a genetic counselor near you
DCM Foundation
Implications of Genetic Testing in Dilated Cardiomyopathy
Find a Cardiomyopathy Specialist
Genetic Cardiomyopathy Awareness Consortium
Global Heart Hub for non-US residents
Episode 8- Should I consider genetic testing for dilated cardiomyopathy? With Greg Ruf
Episode 9- How does family history shed light on sudden cardiac death? With Dr. Susan Liebman
 
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.

Is childhood obesity genetic?

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:
Obesity is a disease, not a lifestyle choice.
Genetics and epigenetics play significant roles in obesity
Genetic predisposition can influence lifestyle choices.
Genetic testing can help identify risks for obesity.
Weight loss challenges may have genetic underpinnings.
Food addiction and cravings are influenced by biology.
The treatment landscape for obesity is evolving rapidly.
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
 
Here are more resources related to today’s topic:
Dr. Nadler’s YouTube Channel: https://www.youtube.com/@obesityexplained
American Academy of Pediatrics Clinical Practice Guideline for the Evaluation and Treatment of Children and Adolescents with Obesity
NPR Article about the AAP Guideline and concerns about the guideline
Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program from Nature
Diagnostic yield of genetic testing for non-syndromic early-onset obesity in a multidisciplinary pediatric obesity clinic- abstract from Genetics in Medicine
 
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.

Can my DNA tell me what diet is best for me?

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:
Nutrigenomics looks at how genes and nutrition interact and how diet can affect gene expression and protein function.
Genetic pathways can provide insights into diet.
Weight is influenced by multiple factors, including genetics.
Genetics can help tailor interventions for individuals.
It is important to understand the content of the genetic testing and consult with a professional before and after testing.
 
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
 
Here are more resources related to today’s topic:
Findageneticcounselor.org to search for a genetic counselor near you
Natalie’s practice- Golden Genetics and email: natalie@goldengeneticshealth.com
 
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 grief inspire genetic action & awareness?

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:
Genetic testing technology has advanced significantly in recent years.
Faith and rituals can help navigate the pain of loss.
Genetic counselors play a crucial role in the testing process.
JScreen provides education and support for genetic testing and aims to make genetic testing accessible to all families.
 
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
 
Here are more resources related to today’s topic:
J Screen website: https://www.jscreen.org/
Matt Goldstein’s LinkedIn: https://www.linkedin.com/in/matthew-g-27983942/
J Screen website: https://www.instagram.com/getjscreened/
 
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 do podcasts give patients the genomic lowdown?

“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.