DNA Dialogues: Conversations in Genetic Counseling Research

De: Journal of Genetic Counseling (Jehannine Austin Naomi Wagner Khalida Liaquat Kate Wilson and DNA Today’s Kira Dineen)
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  • 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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Ciencia Ciencias Biológicas
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Episodios
  • #15-DNA Day: Unexpected DTC Results & Gender Diverse Care

    #15-DNA Day: Unexpected DTC Results & Gender Diverse Care
    Apr 24 2025
    In this episode we feature 2 articles that explore hot topics in genetics as well as opportunities to improve patient care in honor of DNA Day on April 25. DNA day commemorates the completion of the Human Genome Project and the discovery of DNA’s double helix. Both of these studies utilize qualitative methodologies to highlight people’s experiences and share their stories. Segment 1: Not Parent Expected” results through direct-to-consumer genetic testing Julia Becker (she/her) is a board-certified genetic counselor and CSU Stanislaus Genetic Counseling Program graduate. She has a strong interest in the ethical, psychological, and social implications of genetic testing, particularly in the context of unexpected parentage discoveries. Julia is the first author of the article, "Experiences of Individuals Receiving ‘Not Parent Expected’ Results Through Direct-to-Consumer Genetic Testing," published in the Journal of Genetic Counseling. She presented this research at the American College of Medical Genetics and Genomics (ACMG) Annual Conference in 2021, contributing to the ongoing dialogue on the impact of unexpected genetic findings. Her work focuses on supporting individuals navigating complex genetic discoveries and advancing awareness within the genetic counseling community. In this segment we discuss: - The rise in Not Parent Expected (NPE) discoveries through direct-to-consumer genetic testing and what it means to receive this result. - Key emotional themes from interviews with 25 participants, including identity disruption, grief without death, and shifting family dynamics. - How a background in genetic counseling informed a sensitive and in-depth interview approach. - The emotional motivations behind seeking out biological relatives and the varied outcomes of those efforts. - The need for improved informed consent and follow-up care from DTC companies. Segment 2: Transgender and gender diverse patients' experiences with pregnancy-related genetics discussions: A qualitative study Jaime Schechner (she/her) works as a neurology genetic counselor at Boston Children’s Hospital. She completed her Master of Science in Genetic Counseling at Boston University, and previously worked as a genetic counseling assistant at Beth Israel’s Maternal Fetal Medicine Center. Darius Haghighat (he/him) is a reproductive genetic counselor at Boston Medical Center and an Assistant Professor of Obstetrics and Gynecology at Boston University Chobanian & Avedisian School of Medicine. He has prior experience as a cancer genetic counselor as well. He completed his Master's in Genetic Counseling at Boston University. As a queer genetic counselor he is especially passionate about LGBTQIA+ health equity. In this segment we discuss: - The inspiration behind focusing the study on pregnancy-related genetic counseling experiences among trans and gender diverse (TGD) individuals. - Major gaps in reproductive healthcare for TGD patients, including misgendering, binary language, and lack of provider knowledge. - Participant stories about feeling unseen or misgendered, and discussed the emotional impact of these encounters. - Frustrations with terms like "maternal" and "advanced maternal age," and suggested inclusive alternatives for clinical language. - Moments of affirming care, showing how small gestures can have a powerful impact across the healthcare journey. - The need for systemic change, including inclusive policies, provider education, and future research that centers TGD voices. 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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    55 m
  • #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 m
  • #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 m
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