DNA Dialogues: Conversations in Genetic Counseling Research

Auteur(s): Journal of Genetic Counseling (Jehannine Austin Naomi Wagner Khalida Liaquat Kate Wilson and DNA Today’s Kira Dineen)
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  • Résumé

  • In DNA Dialogues we dive into the intricate world of genetic counseling research. Join us as we peel back the layers of groundbreaking articles from the Journal of Genetic Counseling, bringing you exclusive discussions with the authors themselves. Each episode sparks a vibrant exchange, exploring the latest discoveries, ethical dilemmas, and technological advances that are shaping the future of medical genetics. From navigating complex testing decisions to building trust with diverse communities, listen in as we unpack the science, challenge assumptions, and celebrate the human connection at the heart of genetic counseling research. So, grab your headphones, unravel the double helix, and prepare to be captivated by the array of voices in DNA Dialogues, a podcast where the blueprint of life meets intimate human conversation.
    Copyright 2025 All Rights Reserved
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Science Sciences biologiques
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Épisodes
  • #14- Cardio & Genetics: Exploring Revenue & Best Practices

    #14- Cardio & Genetics: Exploring Revenue & Best Practices
    Mar 27 2025
    In this episode, we are discussing 2 articles focused on cardiovascular genetics. In the first segment, Khalida talks to authors Marianne and Erin about their research exploring the opportunities for downstream revenue of cardiac genetic counseling services in a pediatric medical center. In the second segment, Naomi chats with Jodie and Erin about the recent NSGC Practice Resource about genetic testing and counseling for hypertrophic cardiomyopathy. Segment 1: Cardiac genetic counseling services: Exploring downstream revenue in a pediatric medical center Marianne Olson, MS, CGC is a genetic counselor at Baptist Health in Kentucky. She provides prenatal genetic counseling at Maternal Fetal Medicine clinics in Louisville and Lexington. Marianne graduated from the Cincinnati Genetic Counseling Graduate Program in 2024. Prior to working as a genetic counselor, Marianne taught high school chemistry and biology for 12 years. Erin Miller is an Associate Professor in the University of Cincinnati College of Medicine. Erin is a genetic counselor IN THE DIVISION OF CARDIOLOGY at Cincinnati Children’s Hospital Medical Center. She leads the cardiology genetic counseling team in providing genetic counseling services to individuals of all ages with and at risk for cardiovascular disease. Erin is focused on improving access to genetics services for families with inherited cardiovascular diseases. In this segment we discuss: - What sparked the decision to explore downstream revenue (DSR) in a cardiac genetic counseling setting - Financial challenges institutions face when hiring genetic counselors, especially around reimbursement - The role of genetic counseling in reducing costs by guiding risk stratification and avoiding unnecessary testing - Limited uptake of cardiac screening among at-risk relative and strategies that could help improve adherence - How findings from this study can support the case for sustaining genetic counseling roles within pediatric cardiology - Potential to adapt the study’s methodology to other specialties like neurology or prenatal genetics, and considerations for doing so Segment 2: Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors Erin Miller (she/her) is an Associate Professor in the College of Medicine at the University of Cincinnati and a cardiac genetic counselor at Cincinnati Children’s Hospital Medical Center in the Division of Cardiology. She leads the cardiology genetic counseling team in providing genetic counseling services to individuals of all ages with and at risk for cardiovascular disease. Erin is focused on improving access to genetics services for families with inherited cardiovascular diseases. Associate Professor Jodie Ingles (she/her) is Head of the Clinical Genomics Laboratory and Program Director of Genomics and Inherited Disease Program at Garvan Institute of Medical Research. She is a cardiac genetic counsellor in the Department of Cardiology, Royal Prince Alfred Hospital Sydney. Her team is focused on using genomics to improve diagnosis and care of families with inherited cardiovascular diseases. In this segment we discuss: - The motivation behind creating an official practice resource focused on genetic testing and counseling for HCM - Deep dive into the first major recommendation: offering genetic testing to all individuals with a suspected or confirmed diagnosis of HCM, paired with appropriate genetic counseling - Exploration of the second recommendation: ensuring that genetic tests are selected, ordered, and interpreted within the context of genetic counseling, and the complexities that come with this process - Discussion of the third recommendation: providing cardiac and cascade genetic testing to at-risk relatives, without age limitations, and why this is critical for effective family-based care - A look at the barriers to integrating genetic services into cardiology practices, especially in settings without dedicated genetics expertise Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors. Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”. For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com. DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today’s Kira Dineen. Our logo was designed by...
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    57 min
  • #13- Rare Disease Day 2025: Digital Tools for Rare Conditions & Navigating Ultra-rare Disorders

    #13- Rare Disease Day 2025: Digital Tools for Rare Conditions & Navigating Ultra-rare Disorders
    Feb 27 2025

    In this episode we are exploring rare and ultra-rare disease in honor of Rare Disease Day on February 28 which raises awareness for the 300 million people worldwide living with a rare disease. We are talking with one author about their study on the role of digital tools in rare disease management and another author about their research into experiences of parents who have a child with an emerging-ultrarare disorder.

    Segment 1: Exploring the role of digital tools in rare disease management: An interview-based study

    Andrea Chang works as a Genomic Science Liaison at Quest Diagnostics and earned her MS in Genetic Counseling from UCLA’s inaugural genetic counseling class.

    In this segment we discuss:

    • The role of digital tools in healthcare management for rare diseases
    • Real-world examples of existing digital tools for the rare disease community
    • The impact of rare disease on the global population
    • The healthcare gaps currently not addressed by digital tools
    • Recommended digital tool features

    Segment 2: The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders

    Bethany Stafford-Smith works clinically as a genetic counsellor at University Hospitals of Leicester. She also works for Great Ormond Street Hospital as a Research Genetic Counsellor.

    In this segment we discuss:

    • The definition of emerging ultra rare disorders or E-URD
    • Experiences of parents with children diagnosed with an E-URD
    • Parents’ perceptions on the utility of a diagnosis
    • Challenges faced by parents seeking medical and social support after receiving an E-URD diagnosis for their child
    • How researchers and healthcare providers can support advocacy in E-URDs

    Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.

    Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.

    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.

    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.

    DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today’s Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.
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    48 min
  • #12-Genetic Testing in the General Population: Communication and Understanding

    #12-Genetic Testing in the General Population: Communication and Understanding
    Jan 30 2025
    On This Episode We Discuss: In this episode we explore genetic testing in low risk populations, both in direct-to-consumer and clinical settings. We interview authors on two recent JoGC papers related to topics of communication of health risks, understanding of genetic testing, and informed decision-making. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website. Segment 1: An analysis of direct-to-consumer genetic testing portals and their communication of health risk and test limitations Nicole Lee is an associate professor of communication in the School of Social and Behavioral Sciences at Arizona State University. Her research examines the intersection of science communication, public relations, and digital media. This work has been applied to many contexts including climate change, biodiversity research, wellness products, and direct-to-consumer genetic testing. x: @lee_nicole linkedin: https://www.linkedin.com/in/nicoleleepr/ In this segment we discuss: - What motivated the exploration of how direct-to-consumer (DTC) genetic testing companies communicate health risks to consumers. - Potential impacts on consumers who may misinterpret relative risk when presented without adequate context. - Importance of genetic counselors in improving interpretation and communication of DTC genetic test results. - Suggestions for enhancing transparency and clarity in communicating health risks to consumers. Segment 2: Non-Invasive Prenatal Screening: Testing Motivations and Decision Making in the Low-Risk Population Meagan Choates, MS, CGC is the Assistant Program Director of the University of Texas Genetic Counseling Program and Assistant Professor in the Department of Obstetrics, Gynecology, and Reproductive Sciences at the McGovern Medical School at UTHealth Houston where she practices prenatal genetic counseling. She received a BS in Biochemistry and Genetics with a Minor in Psychology from Texas A&M University in 2014 and an MS in Genetic Counseling from the University of Texas Genetic Counseling Program in 2016. Meagan provides prenatal genetic counseling services at several Houston area clinics, and supervises genetic counseling students while on their prenatal rotation. In addition, she directs and teaches the genetic counseling program's Embryology course and Approaches to Genetic Counseling Research I & II. She co-directs and teaches in the program's Prenatal Genetic Counseling, Psychosocial Issues, and Psychosocial Practicum courses. She additionally oversees the genetic counseling students' Master of Science thesis research process. Her personal research interests include understanding how genetic screening and testing options are discussed, utilized, and interpreted in the clinical setting. ResearchGate profile: https://www.researchgate.net/profile/Meagan-Choates-2 In this segment we discuss: - The anecdotal observations that inspired the study, notably that low-risk and high-risk patients shared similar motivations for choosing NIPT. - That insurance coverage was the second most significant factor influencing the decision to undergo NIPT. - About 44% of participants were classified as making "uninformed decisions" despite receiving pre-test counseling from a genetic counselor. However, the term “uninformed” used by the MMIC tool can be misleading. - The challenge of balancing detailed knowledge expectations with patients' ability to make value-consistent and thoughtful decisions. Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors. Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”. For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com. DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today’s Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.
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    43 min

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