Couverture de DNA Dialogues: Conversations in Genetic Counseling Research

DNA Dialogues: Conversations in Genetic Counseling Research

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 Science
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    Épisodes
    • #18-Stats, Stories, and Science: Rethinking Research in Genetic Counseling
      Jul 31 2025

      In this episode, we talk to two genetic counselors about their recent publications in a special edition of the Journal of Genetic Counseling focused on research methods in genetic counseling. First, Benjamin Helm delves into statistical approaches and discusses how transparency and honesty in research can lead to more meaningful scientific contributions. Then Kennedy Borle explores the challenges and benefits of integrating qualitative and quantitative approaches in genetic counseling research.

      Segment 1: “Research methods in genetic counseling: Statistical approaches and resources”

      Benjamin M. Helm, PhD, MS, CGC, is an Associate Professor of Clinical Medical & Molecular Genetics at Indiana University with specific interests in cardiovascular genetics, epidemiology, and public health genomics. He works within the Cardiovascular Genetics program at IU School of Medicine/Indiana University Health. His clinical and academic interests include genetic arrhythmias, congenital heart disease, familial hypercholesterolemia and lipoprotein (a), polygenic score methods, and assessment of population screening for genetic cardiovascular disorders. Additional work extends into public health, improving investigation of genetic risk factors for sudden death in infants and children and birth defect surveillance in Indiana.

      In this segment we discuss:

      • Importance of systematic bias and robust study design
      • Understanding parametric research: assumptions, sample size, and data behavior
      • Common misconceptions, such as the over-reliance on p-values for legitimacy and the pitfalls of p-hacking
      • Encouragement for genetic counselors to engage with statistical research

      Segment 2: “Using mixed methods for genetic counseling research”

      Kennedy Borle is a board-certified genetic counsellor and PhD Candidate in Interdisciplinary Studies at the University of British Columbia. Her research is focused on understanding unmet need for clinical genetic services to improve equitable access to care. Kennedy is also passionate about promoting high quality and justice oriented genetic counselling research practices.

      In this segment we discuss:

      • The complexities and advantages of using mixed methods in genetic counseling
      • Challenges of integrating qualitative and quantitative data
      • The importance of rigorous planning and study design
      • How collaboration can enhance research outcomes

      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 Stephanie Schofield.

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      1 h et 14 min
    • #17-Patient Understanding of Sex and Gender in cell-free DNA Screening
      Jun 26 2025

      In this episode, we explore the motivations, findings, and clinical implications of a recent study examining patient understanding of the terms “sex” and “gender” in the context of prenatal testing, particularly non-invasive prenatal testing (NIPT).

      “Patient understanding of fetal sex versus gender in the context of routine cell-free DNA screening”

      Mindy Kolodziejski (she/her) is a Senior Genetic Counselor at University of Kentucky (UK) HealthCare and a graduate of the UTHealth Houston Genetic Counseling Program (UTGCP). She is the first author of "Patient understanding of fetal sex versus gender in the context of routine cell-free DNA screening," published in the Journal of Genetic Counseling, and presented this research at the National Society of Genetic Counselors (NSGC) conference in 2024. As a queer genetic counselor, Mindy is passionate about LGBTQIA+ issues in genetic counseling and strives to improve care, inclusion, and accessibility for transgender and gender-diverse (TGD) individuals. She also provides genetics services in the UK Differences of Sex Development (DSD) clinic. Connect with Mindy on LinkedIn: https://www.linkedin.com/in/mindy-kolodziejski-a07573186/

      In this segment we discuss:

      - Why the terms sex and gender are different, but are often used interchangeably

      - Factors influencing patient understanding of sex and gender

      - Ways to help patients understand the information being presented while balancing being accurate and appropriate with the language being used

      - Specific content and approaches that can be added to prenatal education programs

      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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      28 min
    • #16-Cancer Care: Surgical Genetic Testing & Pancreatic Cancer Screening
      May 29 2025
      In this episode we are exploring two publications related to cancer care. In our first segment we talk to 2 authors about their research on genetic counselors and identification of patients for high-risk pancreatic cancer screening. In our second segment, Khalida interviews a genetic counselor about their study to evaluate surgical patient perspectives of genetic testing provided by a non-genetics professional. Segment 1: “Practices and perspectives of genetic counselors about high-risk pancreatic cancer screening: A cross-sectional survey study” Amy Wiegand is a board-certified genetic counselor who specializes in cancer genetics. She graduated with her Master’s in Genetic Counseling in 2017 from from the Icahn School of Medicine at Mount Sinai and has worked as a cancer genetic counselor at the Smilow Cancer Genetics and Prevention Program at Yale-New Haven Health since 2017 where she has seen over 2500 patients for a variety of hereditary cancer indications. Her research interests include hereditary pancreatic cancer and alternative delivery care models for genetic testing. Aparna is a senior genetic counseling assistant (GCA) at Smilow Cancer Genetics and Prevention Program at Yale New Haven Health where she has worked since 2019, and she has over 6 years of experience as a GCA. She holds a Master’s degree in Biomedical Genetics and a Bachelor’s degree in Biotechnology. She also has a varied background in administration, finance and customer service. She is a high-performing individual and was recently recognized by her colleagues as ‘Employee of the Quarter’ and honored by the organization as ‘Smilow Star’ for consistently going above and beyond for the patients and the co-workers and for exemplifying the health system’s values. She contributes to the program in a variety of other ways outside of her role and works collaboratively with the team to create a patient centered environment. She has a strong interest in Cancer Genetics and is passionate about research. She is currently working on another research project, the abstract of which was selected for presentation in a Poster Session at 2025 ASCO (American Society of Clinical Oncology) annual meeting. She enjoys being part of a collaborative and dynamic team at Smilow Cancer Genetics and Prevention program and is excited about the upcoming research initiatives in the program. In this segment we discuss: - The significance of pancreatic cancer surveillance for high-risk individuals and why early detection plays a critical role in improving outcomes. - How genetic counselors are uniquely positioned to identify and refer individuals at high risk for pancreatic cancer, emphasizing their role in screening efforts. - An overview of the 2019 CAPS (Cancer of the Pancreas Screening) consensus guidelines and how they are applied to identify high-risk individuals for surveillance - The finding that nearly 70% of genetic counselors accurately identified individuals eligible for screening and discussed the factors that may have contributed to this high rate. - The association between provider comfort level and accuracy in identifying high-risk individuals, and discussed strategies to improve provider confidence and access to screening programs. Segment 2: “Patient experiences of cancer genetic testing by non-genetics providers in the surgical setting” Katie Fiallos is a board-certified genetic counselor who earned her Master of Science in Genetic Counseling from the Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Training program in 2017 and worked for seven years as a cancer genetic counselor at Johns Hopkins. She joined the Department of Medical and Molecular Genetics at Indiana University in August 2024. She is fluent in Spanish and provides genetic counseling in English and Spanish to participants with Parkinson’s disease enrolled in the PD GENEration study. She has authored several academic papers related to genetic counseling, and her current research interests include provision of genetic counseling to Latine individuals, alternate service delivery models, and patient experiences with genetic testing and their informational desires. She lives in Michigan with her family and enjoys staying active, particularly practicing aerial silks. The research for the paper we're discussing was done while she was at Johns Hopkins and was funded by the Jennifer L. Brager Memorial Research award through the Johns Hopkins Kimmel Cancer Center. In this segment we discuss: - Why hereditary cancer genetic testing is becoming increasingly important for patients with breast cancer, especially in relation to surgical decision-making. - The findings that patients preferred genetic testing at an existing appointment shortly after diagnosis, and explored how this timing affects their overall experience. - How many patients had already considered or wanted genetic testing before it was offered, shedding ...
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      52 min
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