Today we are featuring two articles that relate to moving genetics into mainstream healthcare. In our first segment, we discuss polygenic risk scores and the transition from research to clinical use. Our second segment focuses on hypermobility Ehlers Danlos Syndrome and the triaging of clinical referrals.

Segment 1: Readiness and leadership for the implementation of polygenic risk scores: Genetic healthcare providers' perspectives in the hereditary cancer context

Dr Rebecca Purvis is a post-doctoral researcher, genetic counsellor, and university lecturer and coordinator at The Peter MacCallum Cancer Centre and The University of Melbourne, Melbourne, Australia. Dr Purvis focuses on health services delivery, using implementation science to design and evaluate interventions in clinical genomics, risk assessment, and cancer prevention.

In this segment we discuss:

- Why leadership and organizational readiness are critical to successful clinical implementation of polygenic risk scores (PRS).

- How genetic counselors’ communication skills position them as key leaders as PRS moves from research into practice.

- Readiness factors healthcare systems should assess, including culture, resources, and implementation infrastructure.

- Equity, standardization, and implementation science as essential tools for responsible and sustainable PRS adoption.

Segment 2: A qualitative investigation of Ehlers-Danlos syndrome genetics triage

Kaycee Carbone is a genetic counselor at Boston Children's Hospital in the Division of Genetics and Genomics as well as the Vascular Anomalies Center. Her clinical interests include connective tissue disorders, overgrowth conditions, and somatic and germline vascular anomaly conditions. She completed my M.S. in Genetic Counseling at the MGH Institute of Health Professions in 2023. The work she discusses here, "A qualitative investigation of Ehlers-Danlos syndrome genetics triage," was completed as part of a requirement for this graduate program.

In this segment we discuss:

- Why genetics clinics vary widely in how they triage referrals for hypermobile Ehlers-Danlos syndrome (hEDS).

- How rising awareness of hEDS has increased referral volume without clear guidelines for diagnosis and care.

- The ethical and emotional challenges genetic counselors face when declining hEDS referrals.

- The need for national guidelines and clearer care pathways to improve access and coordination for EDS patients.

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.

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 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.

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 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.

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.

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.