In this interview, we learn what epilepsy is, its causes, and the role of genetics in diagnosis and treatment. Beth Sheidley, a genetic counselor, explains the fundamentals of epilepsy, its genetic components, and the latest advancements in genetic testing.

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Keywords:

epilepsy, genetic testing, genetic counseling, seizures, pediatric neurology, genetic causes, epilepsy treatment, genetic diagnosis, brain disorders, clinical trials

Key Topics:

• Clinical presentation of epilepsy and various known causes
• Differences between unprovoked and provoked seizures
• Genetic factors in epilepsy
• Role of genetic counseling in both diagnosis and management

Guest Bio:

Ms. Sheidley is a licensed genetic counselor with over 30 years of experience in clinical genetic counseling, research, and teaching. Her areas of expertise include autism, epilepsy, psychiatric illness and both prenatal and pediatric genetic counseling. She received her BS degree from Cornell University in 1990 and her MS in genetic counseling from Brandeis University in 1994, where she served as Professor of the Practice/Co-Director of Research and Professional Development from 2005 to June 2014.

Ms. Sheidley is the Director of Genetic Counseling for the Department of Neurology at Boston Children’s Hospital where she co-founded the first Epilepsy Genetics Program in the United States. Ms. Sheidley also co-founded and chairs EpiGC, an international network of genetic counselors who specialize in epilepsy genetics.

Ms. Sheidley was the lead author of a systematic review of the epilepsy genetics literature on behalf of the National Society of Genetic Counselors (NSGC) and co-authored the resulting practice guideline adopted by NSGC and endorsed by the AES. She is a Co-Investigator for the Gene-STEPS study at Boston Children’s, which enrolls infants with recent seizure onset for rapid whole genome sequencing.

https://www.linkedin.com/in/beth-rosen-sheidley-4994654/

Resources:

• Findageneticcounselor.org to search for a genetic counselor near you
• Rare Epilepsy Network (REN)
• Epilepsy Foundation

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

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.

Dr. Emily Allen, a genetics researcher, explains the complexities of Fragile X syndrome, its genetic basis, and the importance of advocacy and ongoing research. Discover how genetics influence development, the challenges in diagnosis, and the promising future of personalized treatments.

Key words:

Fragile X, genetics, genetic counseling, developmental delays, autism, pre-mutation, research, advocacy, genetic testing, neurogenetics

Key Topics:

• Genetics of Fragile X syndrome
• Pre-mutation, carrier and full mutation distinctions
• Diagnosis challenges and clinical presentations
• Current research and future therapies

Guest bio:

Dr. Emily Allen’s research centers around studies of fragile X syndrome and Down syndrome. She values interdisciplinary engagement and actively collaborates with community organizations, government bodies, and academic institutions to enhance the breadth and impact of her research. She has combined quantitative and qualitative techniques, often beginning with broad data collection and analysis to identify patterns and trends, followed by in-depth qualitative exploration to better understand the underlying dynamics. She values the engagement of stakeholders throughout the research process, ensuring that those closest to the issues are heard and that their perspectives inform both the framing of research questions and the interpretation of results. By utilizing mixed methods, she can capture both statistical trends and individual experiences, providing a comprehensive perspective that supports better decision-making.

Resources related to today’s topic:

• People article
• National Fragile X Foundation
• Emory page?

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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

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.

Dr. Marleah Dean Kruzel explores the critical role of communication in healthcare, emphasizing how effective dialogue between clinicians and patients can improve health outcomes, reduce errors, and foster trust. She shares personal stories, research findings, and practical tips for enhancing health communication, especially around uncertainty and complex medical information.

Key Words: healthcare communication, patient-provider interaction, medical uncertainty, storytelling in science, health literacy, genetic counseling, medical errors, patient engagement, science communication, healthcare research

Topics Covered:

• Importance of communication in healthcare
• Impact of uncertainty on patient decisions
• Role of storytelling in science and medicine
• Barriers to effective patient-provider communication
• Strategies for improving health literacy and trust

Guest Bio:

Marleah Dean Kruzel (PhD, Texas A&M University) is a professor, researcher, and speaker in healthcare communication. Her research focuses on communication of genetic risk information, has been published in numerous peer-reviewed journals, and funded by the National Cancer Institute, American Cancer Society, the Centers for Disease Control and Prevention, and the Patient-Centered Outcomes Research Institute. The daughter of a 28-year-old breast cancer survivor and BRCA2 previvor herself, she is committed to patient engagement and science communication. For example, she participated in the CDC’s “Bring Your Brave” campaign designed to educate and inspire young women regarding breast cancer risk, frequently gives community presentations and is featured on podcasts to disseminate her about research results. Dr. Dean Kruzel is also a Scientific Advisory Board member for the non-profits FORCE and My Faulty Gene.

LinkedIn Profile: https://www.linkedin.com/in/marleah-dean-kruzel-ph-d-02062128/

Here are more resources related to today’s topic:

• Marleah's story on CDC's Bring Your Brave campaign: https://www.youtube.com/watch?v=BbDIUIXPsqM
• Marleah's TEDx talk: https://www.youtube.com/watch?v=6RVpgP_0XTs
• Marleah’s website
• Marleah’s YouTube channel
• Society of Behavioral Medicine website
• University of South Florida Genetic Counseling Program

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

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.

Maya Brown-Zimmerman shares her personal journey with Marfan syndrome, the importance of early diagnosis, and navigating life with a connective tissue disorder. She discusses medical management, genetic testing, community support, and her work in genetic counseling.

Key words: Marfan syndrome, genetic counseling, connective tissue disorder, medical management, genetic testing, patient advocacy, community support, rare diseases

Key Topics:

• Diagnosis and clinical signs of Marfan syndrome
• Genetic testing and its role in diagnosis
• Managing health and lifestyle with Marfan syndrome

Guest bio:

Maya Brown-Zimmerman is a cardio genetic counselor living with Marfan syndrome, and the mother of four kids. She is passionate about making genetic information accessible. She's volunteered with the Marfan Foundation since she was a teenager and is currently an advisor to both their Professional Advisory Board and Board of Directors.

Resources related to today’s topic:

• Findageneticcounselor.org to search for a genetic counselor near you
• Marfan Foundation
• Facebook Marfan syndrome
• The VEDs Movement
• Loeys-Dietz Syndrome Foundation

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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.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.

In this insightful interview, genetic counselor Andy McCarty discusses the rise of private practice in genetics, the nuances of direct-to-consumer genetic testing, and how to interpret results responsibly. Learn about access, misconceptions, and the importance of professional guidance in genetic testing.

Key Takeaways:

• Not all genetic testing is the same
• Verify results with clinical-grade testing
• Consult a genetic counselor for interpretation of results
• Misleading results can impact your health decisions

Guest Bio:

Andrew McCarty is a genetic counselor focused on bringing accessible, evidence-based genetic services to patients and healthcare teams. As founder of Clover Genetics, he works across specialties to interpret genetic test results, design patient-centered counseling pathways, and advise clinicians on appropriate test selection and follow-up. Andrew has a pragmatic approach: he prioritizes clear communication, action-oriented recommendations, and realistic expectations for what genetic information can and cannot tell us.

Resources:

• Findageneticcounselor.org to search for a genetic counselor near you
• Clover Genetics, Andrew McCarty’s practice

Keywords: genetic counseling, direct-to-consumer testing, private practice, genetic results interpretation, healthcare access, genetic variants, clinical vs consumer testing

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

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.

Lori Jones shares her personal journey with Huntington's disease, exploring its symptoms, family impact, and the importance of community and research. Lori shares with us insights into living with risk, making decisions about testing, and advocating for better understanding and treatment.

Keywords: Huntington's disease, genetics, neurodegenerative, family impact, genetic testing, community support, research, memoir, advocacy

Key Topics:

• Genetic inheritance and risk of Huntington's disease
• Family impact and personal stories of living with HD
• The importance of community, support, and advocacy in HD
• Current research, clinical trials, and future hope for HD treatments

Guest Bio:

Lori Jones has personally experienced the effects of Huntington’s Disease (HD) in her family and was instrumental in starting a Team Hope annual event in her area to raise awareness and support for research and community programs. She has been published in the Wisconsin HDSA Update Newsletter, and spoken in the public schools about HD, genetics, and presymptomatic testing. She has contributed short stories for Women in High Def by Diane Markins. A storyteller at heart, she regularly writes and speaks about her experiences with HD and many other topics to groups of all ages. Lori has three adult children and lives with her husband Chris in Wisconsin, when they aren’t escaping north to the Upper Peninsula of Michigan. “Spared: A Memoir of Risk and Resolve” is her first book.

Resources:

• Lori Jones’ Website
• Spared: A Memoir of Risk and Resolve
• Help 4 HD International
• International Huntington Association
• Huntington’s Disease Society of America
• Information on uniQure

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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

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.

In the realm of genetic counseling, understanding and support are crucial for families facing daunting medical news. When I sat down with Anna Chassevent, a seasoned genetic counselor, she shared valuable insights about the importance of walking alongside families during their journeys through uncertain medical terrain. In this post, we’ll explore her thoughts on meaningful communication, the role of personal experience in counseling, and how to foster a supportive environment for families in need.

Key words: genetic counseling, living well, meaning, resilience, uncertainty, patient experience, psychosocial support, healthcare, mental health, genetic diagnosis

Key Takeaways:

• The importance of walking alongside families through unknowns
• Integrating personal lived experience into clinical practice
• Making meaning of challenging news and decisions
• The role of hope, resilience, and living well

Guest Bio:

Anna is a board certified genetic counselor at the Kennedy Krieger Institute, specializing in pediatric neurogenetics. She graduated from The Johns Hopkins/National Institutes of Health Genetic Counseling Training program. She is also an associate professor, guest lecturer, student mentor, and published research author.

She is passionate about supporting families in living well no matter their or their child’s diagnosis through uncovering what is meaningful to them, holding onto their strengths, and recognising their freedom and responsibility amidst life’s unexpected challenges.

Anna has received training in a range of counseling methods and frequently incorporates logotherapy into her practice. In 2020, Anna was nominated by a patient for the esteemed Heart of Genetic Counseling Award.

She is also a cancer survivor and parent to a child with developmental and behavioral delays, which has profoundly shaped how she cares for the families she sees.

Resources:

• “Man’s Search for Meaning” book by Viktor Frankl
• What is logotherapy?
• Findageneticcounselor.org to search for a genetic counselor near you

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

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.