All Access DNA

#55-Heart health & Connective Tissue: What is Marfan syndrome?

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 [http://findageneticcounselor.org] to search for a genetic counselor near you * Marfan Foundation [http://marfan.org] * Facebook Marfan syndrome [https://www.facebook.com/groups/marfansyndrome] * The VEDs Movement [https://thevedsmovement.org/] * Loeys-Dietz Syndrome Foundation [https://www.loeysdietz.org/]   Take our listener survey here: https://forms.gle/x82MKLRftpKH987s7 [https://forms.gle/x82MKLRftpKH987s7]   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 [http://allaccessdna.com]   Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com [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.

#54-Genetic News Updates with DNA Dispatch

We are talking about current events in genetics, including Olympic sex testing, genetic privacy in insurance, and legal challenges faced by genetic testing companies. It highlights how genetic information is used, misused, and the ongoing debates around privacy and ethics Key words: Genetics, Olympic sex testing, Genetic privacy, Insurance discrimination, Genetic data lawsuits   Key Topics: * The Olympics will start using SRY testing which is a scientifically flawed method of testing for biological sex * Australia passes a country-wide law protecting against using genetic data in life insurance underwriting * Recent lawsuit allegations bring up questions on how private your genetic data really is   Related Episodes: * What are sex trait variations and how do we support intersex individuals? With Kaitlyn Brown [https://www.podbean.com/ew/pb-7mg5g-18b26c8] * Does genetics influence sex and gender? With Kim Zayhowski [https://www.podbean.com/ew/pb-ymts7-18db528]  * When is rare disease not so rare? With Susanna Smith [https://www.podbean.com/ew/pb-avdtc-180e850] * The DNA Dialogues Podcast episode #27: Protecting genetic information: Life insurance and GINA [https://dnadialogues.podbean.com/e/insurance_discrimination/] * Should I delete my 23andMe data? With Anya Prince [https://www.podbean.com/ew/pb-k9ve7-1865af3] * What should I know about buying a DNA test? With Andrew McCarty [https://www.podbean.com/ew/pb-jsx99-1a9b6f5]   Sources: * Andrew Sinclair: World's Athletics' mandatory genetic test for women athletes is misguided. I should know- I discovered the relevant gene in 1990 [https://interaction.org.au/resource/andrew-sinclair-world-athletics-sry/] * Essay: Gender verification of female athletes [https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(05)67843-9/fulltext#:~:text=seven%20had%20androgen%20insensitivity] * A sex test for Olympic contenders harms all women by Chris Mosier and Erika Lorshbough [https://www.latimes.com/opinion/story/2026-04-27/olympics-women-genetic-testing] * Circulating Testosterone as the Hormonal Basis of Sex Differences in Athletic Performance [https://pmc.ncbi.nlm.nih.gov/articles/PMC6391653/#s33] * Genetic Discrimination is Coming for Us All by Kristen V. Brown [https://www.theatlantic.com/health/archive/2024/11/dna-genetic-discrimination-insurance-privacy/680626/] * How your health (and genetic results) affects your life, travel and health insurance [https://theconversation.com/how-your-health-and-genetic-results-affects-your-life-travel-and-health-insurance-270572] * Future implications of polygenic risk scores for life insurance underwriting [https://www.nature.com/articles/s41525-024-00407-x] * Time to End the Use of Genetic Test Results in Life Insurance Underwriting [https://pmc.ncbi.nlm.nih.gov/articles/PMC8607993/] * U of Iowa Genetic Privacy in the US: Insurance and Law Enforcement Use [https://geneticprivacy.lib.uiowa.edu/] * Healthcare AI Firm Sued Over Alleged Unlawful Disclosures of Genetic Data [https://www.hipaajournal.com/tempus-ai-class-action-alawsuit-genetic-data-disclosures/] * Tempus AI Sued for Breach of Genetic Information Privacy Act [https://www.genomeweb.com/cancer/tempus-ai-sued-breach-genetic-information-privacy-act] * Genetic data are not always personal- disaggregating the identifiability and sensitivity of genetic data [https://pmc.ncbi.nlm.nih.gov/articles/PMC10676748/] * Policy brief: can genomic data be anonymised? Global Alliance for Genomics and Health [https://www.ga4gh.org/news_item/can-genomic-data-be-anonymised/]   Give your feedback and help shape All Access DNA! Take our listener survey here: https://forms.gle/x82MKLRftpKH987s7 [https://forms.gle/x82MKLRftpKH987s7]   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 [http://allaccessdna.podbean.com]   Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com [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.

What should I know about buying a DNA test?

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 [http://findageneticcounselor.org] to search for a genetic counselor near you * Clover Genetics [https://clovergenetics.com/], 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 [http://allaccessdna.podbean.com]   Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com [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.

Tortured Hope: What is it like growing up at risk for Huntington’s Disease?

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 [https://lorijoneswrites.com/] * Spared: A Memoir of Risk and Resolve [https://bookshop.org/p/books/spared-a-memoir-of-risk-and-resolve-lori-jones/89d45ff7c23a3756?ean=9798990798403&next=t] * Help 4 HD International [https://www.help4hd.org/] * International Huntington Association [https://huntington-disease.org/] * Huntington’s Disease Society of America [http://www.hdsa.org] * Information on uniQure [https://www.uniqure.com/programs-pipeline/huntingtons-disease] Take Our Listener Survey and Direct Future Episodes! https://tinyurl.com/mr3kcm6b [https://tinyurl.com/mr3kcm6b] 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 [http://allaccessdna.podbean.com] Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com [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.

What does this genetic diagnosis mean? Living well with uncertainty

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 [https://bookshop.org/p/books/man-s-search-for-meaning-viktor-e-frankl/f040ee34581bdc92?ean=9780807014271&next=t&utm_source=google&utm_medium=cpc&utm_campaign=%7Bcampaignname%7D&utm_content=6443417794&gad_source=1&gad_campaignid=16235479093&gbraid=0AAAAACfld43DOHpoeEFoLE6YgqDesP4S8&gclid=CjwKCAjw1N7NBhAoEiwAcPchp3bXt5kAwv9Fg9HhU7MMegHti5KuX-_vSN1kFyZmMv94zCV79oXk6hoCuxQQAvD_BwE]” book by Viktor Frankl * What is logotherapy? [https://viktorfranklamerica.com/what-is-logotherapy/] * Findageneticcounselor.org [http://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 [http://allaccessdna.podbean.com]   Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com [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.