What does this genetic diagnosis mean? Living well with uncertainty

#57-What is Fragile X syndrome & why is it underdiagnosed?

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?   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.

#56-Why is communication important in genetic care?

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/ [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 [https://www.youtube.com/watch?v=BbDIUIXPsqM] * Marleah's TEDx talk: https://www.youtube.com/watch?v=6RVpgP_0XTs [https://www.youtube.com/watch?v=6RVpgP_0XTs] * Marleah’s website [https://marleahdeankruzel.com/] * Marleah’s YouTube channel [https://www.youtube.com/@MarleahDeanKruzel] * Society of Behavioral Medicine website [https://www.sbm.org/] * University of South Florida Genetic Counseling Program [https://health.usf.edu/publichealth/apply/masters/msph-gc]   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.

#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.