DNA Dialogues: Conversations in Genetic Counseling Research

Епизоди

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  #30-Reflecting Real Patient Experiences: Innovative Clinical Research Methods 30.07.2026 1ч 13мин

  In this episode, we are exploring innovative research methodologies in genetics, including narrative and visual methods, conversation analysis and body mapping. Our guests highlight using these methods to drive inclusive and diverse research as well as providing a more nuanced understanding of the lived experiences of families.    Segment 1: Defining joy after a genetic diagnosis: A narrative inquiry   Guest Bio: UNC Greensboro Genetic Counseling Program graduate Jordan Miller earned a masters degree in genetic counseling in 2025 and currently works as a prenatal and cancer genetic counselor at Prisma Health in Columbia, South Carolina. In addition to clinical practice, Jordan serves as part of the faculty for the University of South Carolina Genetic Counseling program, where she is passionate about supporting and mentoring future genetic counselors.   Following a personal experience of finding joy after a devastating family diagnosis, Jordan developed a deep passion for exploring how joy, hope, and humanity can remain central to patient care. Her work and advocacy focus on fostering meaningful conversations about compassionate care and the ways healthcare professionals can help patients and families find moments of connection and resilience during difficult experiences.   In this segment we discuss: - The use of qualitative narrative inquiry and in-person observations, rather than standard surveys, to capture the visceral, underreported experience of joy following a family genetic diagnosis. - The "FERN" grounded framework (Focusing on the present, Embracing life, Redefining joy, and Normalizing the journey) and how its core themes emerged from family narratives. - How healthcare providers and communities can foster joy and humanize care by interacting with pediatric patients as individuals rather than focusing solely on their diagnosis. - Balancing grief and joy in healthcare conversations without pushing toxic positivity, highlighting how small daily moments of joy help families hold onto hope.   Segment 2: Expanding the methodological repertoire: Integrating multimodal approaches in genetic counseling research   Guest Bios: Ms Malebo Malope is a clinical genetic counsellor and currently employed at Stellenbosch University as a lecturer. She coordinates the teaching activities for the Clinical Genetics and Genetic Counselling Unit and leads short courses within the unit. Additionally, Malebo provides clinical genetic counselling at Tygerberg Hospital and participates in clinical training.  Ms Malope has a special interest in decision-making on termination of pregnancy for foetal abnormalities, accessible genetic counselling services and diversity and inclusion within the field of genetics and genomics.   Dr Megan Scott is a South African clinical genetic counsellor and health communication researcher based in Johannesburg. She holds a PhD in Health Communication and works in independent clinical practice, supporting individuals and families across a wide range of genetic indications, including prenatal, paediatric, oncology, ophthalmology and psychiatric genetics. She is actively involved in the South African medical genetics community, including student supervision and training and has previously served on the Genetic Counsellors South Africa (GCSA) committee. Dr Scott is also a Research Associate at the Health Communication Research Unit (HCRU) at the University of the Witwatersrand. Her research focuses on improving healthcare practice across interdisciplinary fields, qualitative research methods, risk and uncertainty discussions, family communication and patient-centred care. She has presented at local and international conferences, published in the fields of genetic counselling and health communication and regularly reviews for academic journals. She also serves as a supervisor, reviewer and examiner for postgraduate students in genetic counselling, public health, psychology and clinical medicine.   Dr Lorr
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  #29-Cancer Genetic Testing Access: Lessons from Point-of-Care & Primary Care 25.06.2026 59мин

  In this episode of DNA Dialogues, we explore two innovative approaches to improving access to genetic testing and hereditary cancer care. First, Daniella Kamara and Mariana Niell Swiller discuss UCLA's GENETECA™ program, a point-of-care genetic testing model that integrates cancer genetic services directly into oncology clinics. In the second half of the episode, Tesla Theoryn discusses research examining why many people who express interest in genetic testing never complete the process. The conversation explores how life circumstances, privacy and insurance concerns, changing readiness, and healthcare system barriers influence decision-making over time.   Segment 1: From the ground up: Launching GENETECA™ (GENetic education and TEsting for CAncer) a point-of-care cancer genetics service at an academic medical center   Guest Bios: Daniella Kamara, MS, LCGC is a cancer genetic counselor at University of California, Los Angeles (UCLA). She has been a cancer genetic counselor for over 10 years and works both in the clinical and research settings helping individuals and families who face a hereditary predisposition to cancer. She has contributed to various research studies over the years aiming to increase access to hereditary cancer testing, creating novel models for support for individuals and their family members, and exploring population-based testing models. She is passionate about supporting patients and their family members to feel empowered by their genetic test results and finding ways to make it easier to navigate healthcare for those facing a hereditary predisposition to cancer.    Mariana Niell-Swiller, MS, CGC, is a board-certified genetic counselor with 20 years of experience specializing in hereditary cancer risk assessment. She holds a BS in Biology from Cornell University and an MS in Genetic Counseling from Brandeis University, and began her clinical career after working as a molecular genetics laboratory technician in neurogenetics. She has since held clinical and leadership roles across a range of settings, from community hospitals to academic medical centers. In her current role as Director of Cancer Genetics at UCLA Health, Mariana leads both clinical program development and innovative IT infrastructure to expand access to hereditary cancer services. She is driven by the belief that thoughtfully designed systems can make genomic medicine more scalable, equitable, and sustainable — and is committed to advancing that vision across health systems. Outside of work, she enjoys kayaking, hiking, and dancing, and shares a love of nature with her husband and son. In this segment we discuss: - Increased access to genetic testing for pancreatic cancer patients through a point-of-care model - The benefits and challenges of mainstreaming genetic testing within routine oncology care - How genetic counseling assistants help improve efficiency, scalability, and patient access to cancer genetics services - Lessons learned from implementing GENETECA™ and balancing greater access with the personalized aspects of genetic counseling   Segment 2: Cancer genetic testing uptake in the primary care setting: Patient perspectives on barriers and facilitators throughout the testing process   Guest Bio: Tesla Theoryn, M.Ed., is a qualitative researcher and former high school science teacher with an applied interest in science communication and decision-making in the context of genetic testing. Her work focuses on how medical messaging and timing influence patient engagement and healthcare decisions. She is currently completing her doctorate from the University of Washington in Public Health Genetics. http://www.linkedin.com/in/theoryn   In this segment we discuss: - How life circumstances influence uptake of genetic testing - How re-offering genetic testing over time may change uptake as people's priorities, concerns, and readiness change - The impact of privacy, insurance, and legal concerns on genetic testing decisions - S
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  Community engagement in research: Intersex individual's perspectives of prenatal screening 18.06.2026 37мин

  Learn the importance of community engagement in intersex research from Louis Canavan and Bria Brown-King. Discover insights into how intersex voices shape prenatal screening conversations. It's crucial that research reflects the realities and needs of those being studied. When intersex perspectives are included, the findings are not only richer but also more relevant to the community.   Featured Article: Intersex community perspectives on prenatal sex chromosome screening: “It silences intersex”   Guest Bios: Louis is an MGH IHP Genetic Counseling alum and is currently studying to be a high school biology/genetics teacher.He works as a paraprofessional at a middle school and is passionate about advocating for the LGBTQIA+ and neurodivergent communities.  www.linkedin.com/in/louiscanavan    Bria is a Black, queer, non-binary, and intersex person. Bria started doing intersex advocacy work as an intern with interACT, where they published articles for them, the ACLU, and Teen Vogue. In 2019, they became the first openly intersex person to speak about intersex issues on the steps of the Supreme Court. Bria now serves on multiple advisory boards, representing intersex people both nationally and internationally. Bria earned their bachelor’s degree in Political Science from York College of Pennsylvania and their Master’s in Nonprofit Management and Philanthropy from Bay Path University.    In this segment we discuss: - How community-engaged research partnerships can improve studies involving intersex individuals and ensure lived experiences are represented. - Intersex community perspectives on prenatal screening, including both potential benefits and concerns about how results may be used. - The impact of healthcare provider language on patient experiences, reproductive decision-making, and perceptions of intersex traits. - The importance of bodily autonomy, reducing stigma in healthcare, and improving provider education about intersex variations.   Resources: InterACT: Advocates for Intersex Youth Intersex Justice Project National LGBTQIA+ Health Education Center   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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  #28-Predictive testing in ALS: How do patients make decisions? 28.05.2026 19мин

  In this episode, we discuss the complexities of predictive genetic testing in Amyotrophic Lateral Sclerosis (ALS) from Dr. Jade Howard's recent study. Learn how it impacts decision-making and what it means for families.   Article: “Predictive genetic testing in amyotrophic lateral sclerosis (ALS): Experiences of decision-making and engagement with UK genetic counseling services”   In this episode we discuss: - The decision-making process surrounding predictive testing - Navigating family dynamics and personal goals - The uncertainty that comes with genetic risks - The need for tailored communication and ongoing support after testing   Guest Bio: Dr Jade Howard is a postdoctoral researcher at Sheffield Institute for Translational Neuroscience, University of Sheffield, UK. Her research focuses on genetic testing in motor neuron disease (MND/ALS), and the development of interventions to help families navigate decisions around testing and the disclosure of results.   Resources: - This research is being led by PI Dr Alisdair McNeill, with the support of the study team Prof Hilary Bekker and Prof Chris McDermott, and a project steering committee. The team are grateful to The MND Association for funding this work and all the participants who took part. - If you are interested in the decision aids discussed in this podcast, they can be found here: https://mymndgenetest.shef.ac.uk/   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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  #27- Protecting genetic information: Life insurance and GINA 30.04.2026 1ч

  In this episode we are exploring 2 recent Journal of Genetic Counseling articles on the topic of insurance coverage and concerns about genetic discrimination. Segment 1: Cardiovascular genetic counselor decision making about discussing life insurance with patients Guest Bios: Sara Cherny has almost 20 years of experience as a genetic counselor in the Chicagoland area, specializing in cardiovascular genetics for the past decade. Her wide range of experience allows her to provide comprehensive care for patients in the Cardiovascular Genetics Clinic at Ann & Robert H. Lurie Children’s Hospital, where she engages in patient care, program development, and research. Her research focuses on trends in cardiovascular genetics, access to genetic services, genetic privacy, and genetic discrimination. She is involved in advocacy work with the Illinois Society of Genetic Professionals (ISGP) and the Pediatric and Congenital Electrophysiology Society (PACES). Sara loves how her work combines science and patient care, and is committed to scientific discovery that both improves patient experience and moves the field forward.  Sarah Jurgensmeyer Langas is a genetic counselor in the Heart Center at the Ann and Robert H. Lurie Children’s Hospital of Chicago with a specific focus in congenital heart disease, aortopathies, and Williams syndrome. Sarah is an Assistant Professor of Pediatrics at Northwestern University Feinberg School of Medicine and enjoys teaching and providing clinical supervision to genetic counseling graduate students and medical students. Sarah is also active in the Illinois Society of Genetic Professionals, currently serving on the Advocacy Committee and previously serving as President in 2024. She was the recipient of the 2023 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award and is passionate about expansion of genetic services to more patient populations. https://www.instagram.com/luriechildrensheartcenter/ https://www.instagram.com/sara_cherny/   In this segment we discuss: - How life insurance considerations arise in genetic counseling, particularly in cardiovascular genetics, and how conversations vary based on patient knowledge, phenotype, and age. - Findings that genetic counselors are more likely to address life insurance with phenotype-positive and adult patients, while time constraints and clinical context can limit these discussions. - How fear of genetic discrimination impacts patient decision-making, including declining testing, alongside reports of real-world insurance denial. - Challenges in balancing transparency with avoiding unnecessary fear, and the need for better education, standardized guidance, and further research in this space. Segment 2: Understanding GINA through case examples: A guide for US-based genetic counselors   Guest Bios: Anya Prince is the David H. Vernon Professor at the University of Iowa College of Law. Her research and teaching interests focus on genetic discrimination and privacy. @anyaprince.bsky.social   Misha Rashkin, MS, CGC, graduated from the Icahn School of Medicine at Mount Sinai Masters program in genetic counseling in 2013. He is a clinical genetic counselor in oncology at Stanford HealthCare, focusing on hereditary malignant hematology. He chaired the NSGC public policy committee in 2018, and lectures about GINA and privacy to genetic counseling graduate programs.   In this segment we discuss: - Ongoing misconceptions and knowledge gaps about GINA, including what it does and does not protect - The value of case-based learning to clarify complex legal and clinical scenarios in genetic counseling - Nuances in GINA’s protections, especially around manifested conditions and evolving genetic technologies - Challenges in counseling patients about discrimination risk, balancing information, and navigating policy gaps like life and disability insurance coverage Resources: Germline genetic testing and privacy concerns in patients with mesothelioma from G
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  #26-Patient Support: Results Booklet & Logotherapy 26.03.2026 49мин

  Today’s episode explores two deeply human dimensions of genetic counseling- how we support families as they process complex genomic information over time and how people make meaning in the face of uncertainty. Both segments discuss how we can support people as they make sense of genetic information in their lives.   Segment 1: Putting control into parents' hands: Parent experiences with a genomic results e-booklet   Guest Bio: Shelin Adam is a Master's trained Genetic Counsellor and Clinical Assistant Professor working at the University of British Columbia Department of Medical Genetics, as well as the Division of Pediatric Neurology at BC Children's Hospital. Her research focus has been the application of new genetic and genomic technology. More specifically, she is interested in understanding the best ways to provide education, decision support and genetic counselling to families being offered genomic sequencing. Shelin has also been involved in looking at issues of equity and access for diverse families who face linguistic, cultural, geographic and economic issues when trying to obtain genetic services.   Key Takeaways: - A genomic results booklet to support parents after pediatric genomic testing. - Findings show improved understanding, communication, and advocacy through a take-home resource. - The study highlights challenges with accessibility, language, and timing of information delivery. - The discussion considers the booklet’s role as a partial substitute for genetic counseling and future AI integration.   Segment 2: Exploring the principles of logotherapy in genetic counseling: Enhancing decision-making, adaptation, and justice   Guest Bios: Nour Chanouha, MS, CGC (she/her), emigrated from her home country of Lebanon in 2020 to pursue a career in genetic counseling. Nour graduated from the Northwestern Graduate Program in Genetic Counseling in 2022 and has since been practicing as a genetic counselor in the maternal-fetal medicine and reproductive endocrinology and infertility (IVF) clinics at the University of Iowa Health Care. Nour holds several leadership roles, including serving as a board member of the Arab Society of Genetic Counselors and co-Chair of its Education Committee, as well as co-Chair of the National Society of Genetic Counselors’ (NSGC) International SIG Mentorship Program. She is also an active volunteer on multiple committees within the National Society of Genetic Counselors, the American Society for Reproductive Medicine, and the Society for Assisted Reproductive Technology. Nour is actively involved in research, education, and mentorship both within and beyond her institution and has been awarded the NSGC 2025 New Leader Award.   Nour’s interest in logotherapy began early in her career. She decided to pursue training in logotherapy as a way to strengthen her counseling skills, enhance cultural competency, and better support patients navigating grief and loss, while also fostering personal and professional growth. When she is not reading Viktor Frankl’s writings on the weekend, she enjoys cooking, traveling and volunteering with the Immigrant Welcome Network of Johnson County.   Kendra is a board-certified genetic counselor with 15 years of experience in reproductive genetics. She currently serves as the supervisor of prenatal genetic counseling at University of Iowa Health Care and is the founder of Allay Life, a private practice dedicated to supporting individuals and families navigating unexpected news in pregnancy. Kendra is deeply committed to advancing the practice of genetic counseling through education and mentorship, with a particular focus on the power of therapeutic relationships and counseling skills to enhance patient outcomes. She also provides peer and professional supervision for practicing genetic counselors and graduate students.   Key Takeaways: - This episode explores the use of logotherapy to support meaning-centered genetic counseling. - The discussion highlights
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  #25- Patient Perspectives & Preferences with Risk and Uncertainty 26.02.2026 37мин

  In this episode we are talking about uncertainty and risk along with patient preferences for communication. Segment 1: The attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing: A systematic review Shanice Allen is a PhD student from the Sheffield Institute for Translational Neuroscience (SITraN) at the University of Sheffield. The aim of her research is exploring the attitudes and experiences of individuals with or at-risk of genetic MND on reproductive genetic testing, and explore how and if clinicians discuss these options with these individuals. This will help us identify any barriers to accessing reproductive services. LinkedIn: https://www.linkedin.com/in/shanice-allen-9a89661a5/   In this segment we discuss: - The attitudes toward reproductive genetic testing in adult-onset genetic conditions. - Experiential knowledge and perceived disease severity in shaping reproductive decision-making. - Ethical themes including guilt, eugenics, and concerns about pregnancy termination. - Findings supporting more tailored, longitudinal genetic counseling approaches.   Segment 2: Assessing patient communication preferences for reclassified variants of uncertain significance in a general genetics clinic Eden Brush, MS, CGC is a pediatric and inpatient genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center. She completed her graduate training at Columbia University as part of the class of 2024. She is passionate about rare disease advocacy, narrative medicine, and disability justice.   In this segment we discuss: - Patient communication preferences for reclassified variants of uncertain significance (VUS) and patient-driven practice insights - Factors that emphasize the utility of shared responsibility, the need for standardized recontact systems, and the importance of equity-focused implementation strategies. - How VUS reclassification type impacted patient-preferred disclosure methods.    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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  Bonus- Questions with the Editor of Journal of Genetic Counseling 12.02.2026 56мин

  We are talking about submitting and publishing manuscripts in the Journal of Genetic Counseling! J9 Austin, the Editor-in-Chief, sits down to explain the process of review, tips for submitting and editing, and answers listener questions.   In this episode we discuss: - A bonus episode with the Journal of Genetic Counseling editor-in-chief on why and how to publish research. - How to choose a journal, write clearly, and navigate submission and peer review. - What reviewers and editors look for and how to respond to feedback effectively. - Support and resources for students and early-career authors aiming to publish.   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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  #24-Clinical genetic services: Provider retention & telegenetics 29.01.2026 38мин

  Today’s episode is about clinical genetic services. In the first segment, Khalida talks to authors Courtney and Jade about retention of patient-facing genetic counselors and how generational age and work environment influence retention. For the second segment, Khalida chats with Dr. Ba-Jaj about telegenetics in India, reviewing data from 3 years and almost 1000 cases!     Segment 1: Factors influencing retention of patient-facing genetic counselors: Role of generational age and work environment Courtney Schroeder, MS, LCGC is an oncology genetic counselor at Indiana University Health. She received her BS in Psychology and Biology from the University of Dayton and her MS in Genetic Counseling from the University of North Carolina Greensboro. Courtney primarily works with the Precision Genomics team at IU Health. She also manages the Hereditary Renal and Prostate Cancer Clinic, which she established through a grant-funded project.   Jade McIntyre, MS, LCGC is a 2025 graduate of Indiana University Genetic Counseling Program. She is currently working as a genetic counselor in the Medical and Molecular Genetics Department at Indiana University Health. Jade is grateful for the opportunity to share the findings from her graduate student research that was published in July 2025.   In this segment we discuss: - This episode explores factors influencing retention of patient-facing genetic counselors. - The study highlights flexibility, autonomy, and experience as key drivers of retention. - Results show higher retention among older, more experienced counselors. - The discussion emphasizes employer strategies to improve workforce retention.   Segment 2: Telegenetics in India: A 3-year review of 938 appointments and patient–clinician perspectives   Dr Shruti Bajaj completed her MBBS and MD Pediatrics from Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai. She subsequently pursued a Fellowship in Clinical Genetics, accredited by Maharashtra University of Health Sciences, from Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai. Thereafter, Dr. Shruti Bajaj amassed vast clinical experience as an Assistant Professor in the busy Department of Pediatrics and Clinical Genetics at Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, for five years (2013- 2017). She has to her credit a short observership and training in Clinical & Laboratory Genetics from Kasturba Medical College, Manipal. She has additionally been trained through multiple short modules in different subspecialities of Clinical Genetics from prestigious centres across the country and the world. Some of these include the 'Cancer genetic counseling' course from Tata Memorial Hospital, Mumbai and the challenging 'Skeletal dysplasia' course from Lausanne, Switzerland. Dr Shruti Bajaj is the Founder and Director of The Purple Gene Clinic, which she established in 2017. The Purple Gene Clinic provides cares to patients across the country, and is one of the busiest and most trustworthy Genetic Clinics in India. Despite a demanding and busy practice, Dr Shruti Bajaj obtained the prestigious International Masters Degree in Neurometabolism and Cell Biology, from SJD Barcelona's Children Hospital, University of Barcelona, in 2024. During this course, Dr. Bajaj was awarded the prestigious International Travel Scholarship for both 2023 and 2024, after her submitted clinical cases were selected as the best amongst all applications, highlighting her exceptional clinical acumen and dedication. As a testimony to her passion for academics, Dr Bajaj has numerous national and international publications, as well as chapters in leading textbooks, to her credit. Dr Bajaj's innate compassion and passion for social services led her to establish a support group for individuals with Down syndrome, called PEHEL, in Mumbai in 2018. She also runs a charitable OPD at The Purple Gene Clinic, called S
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  #23- Building Systems for Genetic Care: PRS Implementation and EDS Triage 18.12.2025 50мин

  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.
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  #22-Genetic Counselor Appreciation: Professional Identity & Well Being 27.11.2025 53мин

  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.
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  #21- From Specialty Clinics to Family Medicine: Rethinking Access to Genetics 30.10.2025 26мин

  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.  
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  #20- Revisiting Research: Implementation Science & Retrospective Chart Review 25.09.2025 54мин

  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 tune
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  #19-Shifting Paradigms: APOE in Dyslipidemia & Patient Voices in Neurogenetics 28.08.2025 44мин

  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
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  #18-Stats, Stories, and Science: Rethinking Research in Genetic Counseling 31.07.2025 1ч 13мин

  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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  #17-Patient Understanding of Sex and Gender in cell-free DNA Screening 26.06.2025 27мин

  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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  #16-Cancer Care: Surgical Genetic Testing & Pancreatic Cancer Screening 29.05.2025 52мин

  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 counselin
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  #15-DNA Day: Unexpected DTC Results & Gender Diverse Care 24.04.2025 54мин

  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 informat
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  #14- Cardio & Genetics: Exploring Revenue & Best Practices 27.03.2025 56мин

  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 practic
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  #13- Rare Disease Day 2025: Digital Tools for Rare Conditions & Navigating Ultra-rare Disorders 27.02.2025 48мин

  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.