DNA Dialogues: Conversations in Genetic Counseling Research

Earlier this month, we celebrated Genetic Counselor Appreciation Day on November 13! In recognition of this, we are featuring 2 articles that explore professional issues in the field of genetic counseling. In our first segment, we talk to Dr. Rachel Mills about the professional identity of early-career genetic counselors and in the second segment, we speak to Dr. Laura Yeates about self care strategies in cardiovascular genetic counselors. Segment 1: Early-career genetic counselors' professional identity formation through experiences with continuing education at a professional conference Dr. Rachel Mills is an Associate Professor and the Director of Research for the University of North Carolina Greensboro Genetic Counseling Program. She is a career-long research genetic counselor who is passionate about mentoring student researchers. Rachel's recent research has focused on professional issues in genetic counseling. In this segment we discuss: How early-career genetic counselors form and affirm their professional identity. Generational differences in values and post-COVID conference experiences. The role of mentorship and community in fostering belonging. Implications for training programs and future identity research.   Segment 2: Well-being and self-care strategies for cardiovascular genetic counselors: A qualitative study Dr Laura Yeates is a certified cardiac genetic counsellor with more than 18 years' experience, working in both research and clinical roles. She recently completed her PhD in genetic counselling under the supervision of A/Prof Jodie Ingles at the Garvan Institute in Sydney, Australia. Her PhD focused on developing a support intervention for families affected by sudden cardiac death as well as well-being in cardiovascular genetic counsellors. Laura is a past Chair (president) of the Australasian Society of Genetic Counselors (ASGC) and continues to volunteer on various ASGC committees.  In this segment we discuss: How cardiac genetic counselors experience and manage the emotional impact of sudden cardiac death cases. The role of countertransference, supervision, and team support in sustaining well-being. How administrative burden contributes to stress and reduces time for meaningful clinical work. Practical and organizational strategies that help counselors build sustainable self-care routines. 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 [email protected].  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.

The case for integrating genetic counselors into primary care:A paradigm shift for our profession   Natasha Berman (she/her) MA, MS, MPH, CGC is a clinical genetic counselor at the UPMC Department of Family Medicine who works within the primary care precision medicine clinic. She provides direct patient care to patients for a variety of indications. She has coauthored multiple textbook chapters covering family medicine genetic topics. Her primary areas of research include improving equitable genetics care.   Vivian Pan, MS, CGC is a Senior Genetic Counselor at the University of Illinois Cancer Center and Mile Square Health Center, where she provides genetic counseling services and conducts research on integrating genetics into primary care settings. She has extensive experience developing telehealth and precision medicine programs across diverse healthcare settings, with a focus on increasing equitable access to genomic medicine for underserved populations.   In this episode we discuss: Integrating genetic counseling into primary care to improve access and equity Educating and collaborating with primary care providers to enhance and expand  genomic care Expanding counselor roles for multifactorial conditions and preventive care Sustaining the model through advocacy, partnerships, and reimbursement reform   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 [email protected].    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.  

In this episode, we talk with two authors who have papers featured in the special issue of the Journal of Genetic Counseling on Research Methods in Genetic Counseling. In the first segment we explore implementation science and its utilization in bridging the gap between research and clinical practice. In our second segment, we talk to an author about retrospective chart reviews and the benefits and drawbacks of this methodology.   Segment 1: A guide to utilizing implementation science for genetic counseling   Alanna Kulchak Rahm is a certified genetic counselor and implementation scientist with a PhD in Health and Behavioral Science. She has spent her career specializing in the implementation of genomics and precision health in healthcare systems. For over 25 years, she has conducted research on the utilization of genetic information by individuals and healthcare systems, new paradigms for identifying individuals with genomic risk, and new service delivery models for genomic testing. She has been a driver for the integration of implementation science and patient engagement to understand and study the integration of genomics into the learning health system, and is a tireless advocate of implementation science in genetic counseling. She has participated in and led many workshops and trainings on implementation science in genetics, serving as a faculty mentor for the NIH Training in Dissemination and Implementation Research in Cancer (TIDIRC) and recently as a co-lead of the Training in Dissemination and Implementation Research in Genomics and Precision Public Health (TIDIR-GPPH). She is currently a Program Director in the Division of Genomic Medicine at the National Human Genome Institute (NHGRI) where she directs the Network of Genomics-Enabled Learning Health Systems and other programs and continues to advance the integration of implementation science and genomics.   In this segment we discuss: Implementation science (IS) as a bridge between research and clinical practice in genetic counseling Misconceptions about IS, key frameworks like RE-AIM, and practical applications in daily work Using IS to identify and reduce inequities in genomic medicine Future integration of IS into training, research, and professional practice Link to the 2025 annual conference on dissemination and implementation    Segment 2: Leveraging hindsight: A retrospective chart review how-to for genetic counselors   Dr. Ramsey is the Section Chief of Individualized Therapeutics in the Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation at Children’s Mercy. She is leading the implementation of a pharmacogenomics program that is fully integrated with the electronic health record, developing model-informed decision support for several medications, and Co-director of their Pediatric Clinical Pharmacology Fellowship Program. Before joining Children’s Mercy, Dr. Ramsey was an Associate Professor and co-director of the Genetic Pharmacology Service at Cincinnati Children’s Hospital. She completed her postdoctoral fellowship in Pharmacogenetics at St. Jude Children’s Research Hospital and received her PhD in Molecular, Cellular, Developmental Biology and Genetics from the University of Minnesota – Twin Cities. Dr. Ramsey is interested in all aspects of pharmacogenetics, from basic research to implementation in patient care.   In this segment we discuss: The role of retrospective chart reviews in genetic counseling research Common pitfalls such as unclear aims, time demands, and data extraction challenges Strategies for success, including SOPs, REDCap, and multidisciplinary collaboration Lessons learned on refining criteria, ensuring data quality, and team engagement   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

We are discussing perspective changes in neurology genetics with the crossover of the APOE gene in neuro and cardio as well as telehealth for neurology predictive testing. Segment 1: Is it time for a paradigm shift? Inclusion of APOE  on genetic dyslipidemia panels.   Emily Brown is a certified genetic counselor at the Center for Inherited Heart Disease at Johns Hopkins Hospital. She graduated from the University of Maryland Genetic Counseling Program in 2014 and has practiced in cardiology for the past 10 years. Her main areas of interest include dyslipidemias, and she is a member of the National Lipid Association.   Hannah Ison is a cardiovascular genetic counselor at the Stanford Center for Inherited Cardiovascular Disease. She received her Master’s in Medical and Molecular Genetics from Indiana University in 2018, and returned home to California to begin her career. Her primary clinical interest includes working with patients who have inherited lipid conditions in both the adult and pediatric setting. A large part of her role has been focused on developing a Pediatric Lipid Clinic at the Stanford Children’s Hospital, allowing her to care for patients across the generations. Hannah was the co-chair of the Dyslipidemia Working Group through the cardiovascular SIG from 2020-2024 where she worked with members to develop dyslipidemia resources. In addition to her work in the lipid space, she also provides inpatient and outpatient genetic counseling to patients with isolated congenital heart disease, and enjoys participating in various research opportunities.    In this segment we discuss: - APOE’s relevance in both Alzheimer’s and cardiovascular disease - Counseling strategies for APOE alleles (ε2, ε3, and ε4), including penetrance, lifestyle modification, and exploration of risk for conditions and symptoms external to Alzheimer’s - Case studies highlighting APOE’s diagnostic, variant, and treatment insights - The need for standardization, education, and reframing of APOE testing in practice Segment 2: Patient-reported outcomes for remote and in-person visits for genetic counseling in adult neurology.   Rachel A. Paul, MS, CGC and Laynie Dratch, ScM, CGC are board-certified genetic counselors who specialize in adult neurogenetics and work with the Penn Neurogenetics Therapy Center team in Philadelphia, PA (https://www.linkedin.com/company/penn-neurogenetics-therapy-center).   Rachel provides clinical and research genetic counseling services for the Division of Movement Disorders at the University of Pennsylvania. Her research interests include genetic screening for clinical trials access, remote/telemedicine genetic services, and motivations/barriers for genetics utilization. She graduated cum laude from Temple University in Philadelphia, previously worked as a genetic counseling assistant (GCA) for the Penn neurogenetics program, and completed her training with the Arcadia University (now University of Pennsylvania) Genetic Counseling Program.   Laynie’s clinical focus includes frontotemporal degeneration (FTD) spectrum disorders, amyotrophic lateral sclerosis (ALS), and other neurodegenerative conditions. Her research interests include the lived experiences of at-risk individuals, predictive genetic testing considerations, and genetic counseling access and service delivery. She graduated summa cum laude from Colgate University with a BA in neuroscience and a minor in psychology, and completed her genetic counseling masters training at the Johns Hopkins University and the National Institutes of Health.   In this segment we discuss: - How COVID-19 pushed neurogenetics counseling from in-person to telehealth. - Why patient satisfaction stayed high across both formats, with video outperforming phone. - What drives visit preferences—travel, tech comfort, privacy, and clinical needs. - Future research to refine protocols, improve access, and explore broader applications.   Would you like to nominate a JoGC article to b

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 [email protected].  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.