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 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 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:

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:

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 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 [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.

In this episode we are exploring two publications related to cancer care. In our first segment we talk to 2 authors about their research on genetic counselors and identification of patients for high-risk pancreatic cancer screening. In our second segment, Khalida interviews a genetic counselor about their study to evaluate surgical patient perspectives of genetic testing provided by a non-genetics professional. 

Segment 1: “Practices and perspectives of genetic counselors about high-risk pancreatic cancer screening: A cross-sectional survey study”

Amy Wiegand is a board-certified genetic counselor who specializes in cancer genetics. She graduated with her Master’s in Genetic Counseling in 2017 from from the Icahn School of Medicine at Mount Sinai and has worked as a cancer genetic counselor at the Smilow Cancer Genetics and Prevention Program at Yale-New Haven Health since 2017 where she has seen over 2500 patients for a variety of hereditary cancer indications. Her research interests include hereditary pancreatic cancer and alternative delivery care models for genetic testing.

Aparna is a senior genetic counseling assistant (GCA) at Smilow Cancer Genetics and Prevention Program at Yale New Haven Health where she has worked since 2019, and she has over 6 years of experience as a GCA. She holds a Master’s degree in Biomedical Genetics and a Bachelor’s degree in Biotechnology. She also has a varied background in administration, finance and customer service. She is a high-performing individual and was recently recognized by her colleagues as ‘Employee of the Quarter’ and honored by the organization as ‘Smilow Star’ for consistently going above and beyond for the patients and the co-workers and for exemplifying the health system’s values. She contributes to the program in a variety of other ways outside of her role and works collaboratively with the team to create a patient centered environment. She has a strong interest in Cancer Genetics and is passionate about research. She is currently working on another research project, the abstract of which was selected for presentation in a Poster Session at 2025 ASCO (American Society of Clinical Oncology) annual meeting. She enjoys being part of a collaborative and dynamic team at Smilow Cancer Genetics and Prevention program and is excited about the upcoming research initiatives in the program.

In this segment we discuss:

- The significance of pancreatic cancer surveillance for high-risk individuals and why early detection plays a critical role in improving outcomes.

- How genetic counselors are uniquely positioned to identify and refer individuals at high risk for pancreatic cancer, emphasizing their role in screening efforts.

- An overview of the 2019 CAPS (Cancer of the Pancreas Screening) consensus guidelines and how they are applied to identify high-risk individuals for surveillance

- The finding that nearly 70% of genetic counselors accurately identified individuals eligible for screening and discussed the factors that may have contributed to this high rate.

- The association between provider comfort level and accuracy in identifying high-risk individuals, and discussed strategies to improve provider confidence and access to screening programs.

Segment 2: “Patient experiences of cancer genetic testing by non-genetics providers in the surgical setting”

Katie Fiallos is a board-certified genetic counselor who earned her Master of Science in Genetic Counseling from the Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Training program in 2017 and worked for seven years as a cancer genetic counselor at Johns Hopkins. She joined the Department of Medical and Molecular Genetics at Indiana University in August 2024. She is fluent in Spanish and provides genetic counseling in English and Spanish to participants with Parkinson’s disease enrolled in the PD GENEration study. She has authored several academic papers related to genetic counseling, and her current research interests include provision of genetic counseling to Latine individuals, alternate service delivery models, and patient experiences with genetic testing and their informational desires. She lives in Michigan with her family and enjoys staying active, particularly practicing aerial silks. The research for the paper we're discussing was done while she was at Johns Hopkins and was funded by the Jennifer L. Brager Memorial Research award through the Johns Hopkins Kimmel Cancer Center.

In this segment we discuss:

- Why hereditary cancer genetic testing is becoming increasingly important for patients with breast cancer, especially in relation to surgical decision-making.

- The findings that patients preferred genetic testing at an existing appointment shortly after diagnosis, and explored how this timing affects their overall experience.

- How many patients had already considered or wanted genetic testing before it was offered, shedding light on patient awareness and readiness.

- Why patients were primarily motivated by concern for relatives and a desire for complete information, rather than surgical decision-making.

- Gaps in patient-provider communication identified in the study and suggested ways for providers to address these issues in clinical practice.

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]. 

Segment 1: Not Parent Expected” results through direct-to-consumer genetic testing

Julia Becker (she/her) is a board-certified genetic counselor and CSU Stanislaus Genetic Counseling Program graduate. She has a strong interest in the ethical, psychological, and social implications of genetic testing, particularly in the context of unexpected parentage discoveries.

Julia is the first author of the article, "Experiences of Individuals Receiving ‘Not Parent Expected’ Results Through Direct-to-Consumer Genetic Testing," published in the Journal of Genetic Counseling. She presented this research at the American College of Medical Genetics and Genomics (ACMG) Annual Conference in 2021, contributing to the ongoing dialogue on the impact of unexpected genetic findings. Her work focuses on supporting individuals navigating complex genetic discoveries and advancing awareness within the genetic counseling community.

In this segment we discuss:

- The rise in Not Parent Expected (NPE) discoveries through direct-to-consumer genetic testing and what it means to receive this result.

- Key emotional themes from interviews with 25 participants, including identity disruption, grief without death, and shifting family dynamics.

- How a background in genetic counseling informed a sensitive and in-depth interview approach.

- The emotional motivations behind seeking out biological relatives and the varied outcomes of those efforts.

- The need for improved informed consent and follow-up care from DTC companies.

Segment 2: Transgender and gender diverse patients' experiences with pregnancy-related genetics discussions: A qualitative study

Jaime Schechner (she/her) works as a neurology genetic counselor at Boston Children’s Hospital. She completed her Master of Science in Genetic Counseling at Boston University, and previously worked as a genetic counseling assistant at Beth Israel’s Maternal Fetal Medicine Center.

Darius  Haghighat (he/him) is a reproductive genetic counselor at Boston Medical Center and an Assistant Professor of Obstetrics and Gynecology at Boston University Chobanian & Avedisian School of Medicine. He has prior experience as a cancer genetic counselor as well. He completed his Master's in Genetic Counseling at Boston University. As a queer genetic counselor he is especially passionate about LGBTQIA+ health equity.

In this segment we discuss:

- The inspiration behind focusing the study on pregnancy-related genetic counseling experiences among trans and gender diverse (TGD) individuals.

- Major gaps in reproductive healthcare for TGD patients, including misgendering, binary language, and lack of provider knowledge.

- Participant stories about feeling unseen or misgendered, and discussed the emotional impact of these encounters.

- Frustrations with terms like "maternal" and "advanced maternal age," and suggested inclusive alternatives for clinical language.

- Moments of affirming care, showing how small gestures can have a powerful impact across the healthcare journey.

- The need for systemic change, including inclusive policies, provider education, and future research that centers TGD voices.

Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.

Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”. 

For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. 

Any questions, episode ideas, guest pitches, or comments can be sent into [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.

In this episode, we are discussing 2 articles focused on cardiovascular genetics. In the first segment, Khalida talks to authors Marianne and Erin about their research exploring the opportunities for downstream revenue of cardiac genetic counseling services in a pediatric medical center. In the second segment, Naomi chats with Jodie and Erin about the recent NSGC Practice Resource about genetic testing and counseling for hypertrophic cardiomyopathy.

Segment 1: Cardiac genetic counseling services: Exploring downstream revenue in a pediatric medical center

Marianne Olson, MS, CGC is a genetic counselor at Baptist Health in Kentucky. She provides prenatal genetic counseling at Maternal Fetal Medicine clinics in Louisville and Lexington. Marianne graduated from the Cincinnati Genetic Counseling Graduate Program in 2024. Prior to working as a genetic counselor, Marianne taught high school chemistry and biology for 12 years.

Erin Miller is an Associate Professor in the University of Cincinnati College of Medicine. Erin is a genetic counselor IN THE DIVISION OF CARDIOLOGY at Cincinnati Children’s Hospital Medical Center. She leads the cardiology genetic counseling team in providing genetic counseling services to individuals of all ages with and at risk for cardiovascular disease. Erin is focused on improving access to genetics services for families with inherited cardiovascular diseases.

In this segment we discuss:

- What sparked the decision to explore downstream revenue (DSR) in a cardiac genetic counseling setting

- Financial challenges institutions face when hiring genetic counselors, especially around reimbursement

- The role of genetic counseling in reducing costs by guiding risk stratification and avoiding unnecessary testing

- Limited uptake of cardiac screening among at-risk relative and strategies that could help improve adherence

- How findings from this study can support the case for sustaining genetic counseling roles within pediatric cardiology

- Potential to adapt the study’s methodology to other specialties like neurology or prenatal genetics, and considerations for doing so

Segment 2: Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors

Erin Miller (she/her) is an Associate Professor in the College of Medicine at the University of Cincinnati and a cardiac genetic counselor at Cincinnati Children’s Hospital Medical Center in the Division of Cardiology. She leads the cardiology genetic counseling team in providing genetic counseling services to individuals of all ages with and at risk for cardiovascular disease. Erin is focused on improving access to genetics services for families with inherited cardiovascular diseases.

Associate Professor Jodie Ingles (she/her)  is Head of the Clinical Genomics Laboratory and Program Director of Genomics and Inherited Disease Program at Garvan Institute of Medical Research. She is a cardiac genetic counsellor in the Department of Cardiology, Royal Prince Alfred Hospital Sydney. Her team is focused on using genomics to improve diagnosis and care of families with inherited cardiovascular diseases.

In this segment we discuss:

- The motivation behind creating an official practice resource focused on genetic testing and counseling for HCM

- Deep dive into the first major recommendation: offering genetic testing to all individuals with a suspected or confirmed diagnosis of HCM, paired with appropriate genetic counseling

- Exploration of the second recommendation: ensuring that genetic tests are selected, ordered, and interpreted within the context of genetic counseling, and the complexities that come with this process

- Discussion of the third recommendation: providing cardiac and cascade genetic testing to at-risk relatives, without age limitations, and why this is critical for effective family-based care

- A look at the barriers to integrating genetic services into cardiology practices, especially in settings without dedicated genetics expertise

Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.

Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”. 

For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. 

Any questions, episode ideas, guest pitches, or comments can be sent into [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.

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 [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.

In this episode we explore genetic testing in low risk populations, both in direct-to-consumer and clinical settings. We interview authors on two recent JoGC papers related to topics of communication of health risks, understanding of genetic testing, and informed decision-making. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.

Segment 1: An analysis of direct-to-consumer genetic testing portals and their communication of health risk and test limitations

Nicole Lee is an associate professor of communication in the School of Social and Behavioral Sciences at Arizona State University. Her research examines the intersection of science communication, public relations, and digital media. This work has been applied to many contexts including climate change, biodiversity research, wellness products, and direct-to-consumer genetic testing.

x: @lee_nicole

linkedin: https://www.linkedin.com/in/nicoleleepr/

In this segment we discuss:

- What motivated the exploration of how direct-to-consumer (DTC) genetic testing companies communicate health risks to consumers.

- Potential impacts on consumers who may misinterpret relative risk when presented without adequate context.

- Importance of genetic counselors in improving interpretation and communication of DTC genetic test results.

- Suggestions for enhancing transparency and clarity in communicating health risks to consumers.

Segment 2: Non-Invasive Prenatal Screening: Testing Motivations and Decision Making in the Low-Risk Population

Meagan Choates, MS, CGC is the Assistant Program Director of the University of Texas Genetic Counseling Program and Assistant Professor in the Department of Obstetrics, Gynecology, and Reproductive Sciences at the McGovern Medical School at UTHealth Houston where she practices prenatal genetic counseling. She received a BS in Biochemistry and Genetics with a Minor in Psychology from Texas A&M University in 2014 and an MS in Genetic Counseling from the University of Texas Genetic Counseling Program in 2016. Meagan provides prenatal genetic counseling services at several Houston area clinics, and supervises genetic counseling students while on their prenatal rotation. In addition, she directs and teaches the genetic counseling program's Embryology course and Approaches to Genetic Counseling Research I & II. She co-directs and teaches in the program's Prenatal Genetic Counseling, Psychosocial Issues, and Psychosocial Practicum courses. She additionally oversees the genetic counseling students' Master of Science thesis research process. Her personal research interests include understanding how genetic screening and testing options are discussed, utilized, and interpreted in the clinical setting.

ResearchGate profile: https://www.researchgate.net/profile/Meagan-Choates-2

In this segment we discuss:

- The anecdotal observations that inspired the study, notably that low-risk and high-risk patients shared similar motivations for choosing NIPT.

- That insurance coverage was the second most significant factor influencing the decision to undergo NIPT.

- About 44% of participants were classified as making "uninformed decisions" despite receiving pre-test counseling from a genetic counselor. However, the term “uninformed” used by the MMIC tool can be misleading.

- The challenge of balancing detailed knowledge expectations with patients' ability to make value-consistent and thoughtful decisions.

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.

We’re thrilled to share a special episode drop from one of our producers, Kira Dineen, and her flagship podcast, DNA Today! As a multi award winning genetics podcast with over 12 years of groundbreaking episodes, DNA Today explores the latest in genetics and genomics through expert interviews and engaging discussions. 

To celebrate the new year, this episode reflects back on the top genetics and genomics news stories during 2024. The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2024” paper. 

Joining Kira Dineen for this discussion are two leaders in genomics: Dr. Bruce Gelb and Dr. Eric Green. In this reflective conversation, Kira Dineen, Dr. Bruce Gelb, and Dr. Eric Green discusses the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference. They explore themes such as variable expressivity, the integration of genomics in human genetics, and the importance of diversity in genomic research. 

The discussion also highlights key publications in genomic medicine and the evolving landscape of genetic research, emphasizing the need for continued focus on prevention and the implications of polygenic risk scores. They converse about the evolving landscape of genomic medicine, highlighting key advancements in research, particularly in areas like hemochromatosis and CRISPR technology. They reflect on the rapid progress made in genomic sequencing, especially in newborns, and the transformative impact it has on healthcare, particularly in NICUs. The discussion emphasizes the importance of diverse studies and scalable solutions in genetic counseling, as well as the future potential of genomic medicine to save lives and improve health outcomes. 

The Guests: 

Bruce D. Gelb, M.D. is the Director and Gogel Family Professor of the Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai. He is Professor of Pediatrics and of Genetics and Genomic Sciences. Dr. Gelb completed a pediatric residency and pediatric cardiology fellowship at Babies Hospital of Columbia-Presbyterian Medical Center and Texas Children’s Hospital at the Baylor College of Medicine, respectively. He joined the faculty at Mount Sinai in 1991 after fellowship and has remained there since. He developed and now oversees an extensive program in genomics/gene discovery for congenital heart disease. Dr. Gelb has received the E. Mead Johnson Award from the Society for Pediatric Research and the Norman J. Siegel New Member Outstanding Science Award from the American Pediatric Society. He was elected to the American Society of Clinical Investigation and the National Academy of Medicine (formerly, the Institute of Medicine). Dr. Gelb is the President for the American Pediatric Society, Immediate Past President for the International Pediatric Research Foundation and Treasurer-Elect for the American Society of Human Genetics. In addition to his research, he co-directs the Cardiovascular Genetics Program at Mount Sinai.

Dr. Eric Green is the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). Throughout his career, he has authored and co-authored over 385 scientific publications. 

Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times! He was featured on Episode #182 when we chatted about the Human Genome Project and the recent completion of the human genome sequence -- from telomere to telomere. Dr. Green was a panelist on the PhenoTips Speaker Series installment that our host Kira Dineen moderated about population genomics in clinical practice, this was also released on the DNA Today podcast feed as Episode #260. He was also on the last couple years for our genetics wrapped 2022 (#214) and 2023 (#263). 

Be sure to subscribe to DNA Today wherever you get your podcasts to explore hundreds of episodes on topics ranging from genetic counseling to cutting-edge research in genomics. New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

In this episode we discuss the recent National Society of Genetic Counselor’s Practice Resource on Dystrophinopathies, which was recently published in JoGC, with two of the publications’ authors. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.

Segment 1: “Genetic counseling for the dystrophinopathies- Practice resource of the National Society of Genetic Counselors”

Ann Martin, MS, CGC is a board certified genetic counselor with Parent Project Muscular Dystrophy (PPMD). Ann serves as the VP of Community Research and Genetic Services and manages a team of genetic counselors who coordinate all aspects of The Duchenne Registry and the Decode Duchenne genetic testing program. Since joining PPMD in 2011, Ann has been directly involved in all aspects of the Registry programs including collection and curation of the Registry data, clinical trial and research study recruitment, data exports, patient and family inquiries, genetic testing, and educational content on the PPMD websites. Ann represents The Duchenne Registry on TREAT-NMD’s Global Data Oversight Committee, which is responsible for reviewing requests for data from the TREAT-NMD Global Registries, and serves as the DMD Subgroup Co-Lead. In addition, Ann has been a member of Sarepta Therapeutics’ Advisory Board for Early Diagnosis of Duchenne since 2022. Ann is continually engaging and educating both the patient and professional community about the Registry and Duchenne and Becker research. Before joining PPMD, Ann worked as a clinical genetic counselor for 15 years at Carolinas Medical Center in Charlotte, NC, where she provided genetic counseling for pediatric and adult patients with a wide range of genetic disorders. Ann is a graduate of the University of Cincinnati Genetic Counseling Graduate Program. She is board-certified by the American Board of Genetic Counseling and is a member of the National Society of Genetic Counselors.

Angela Pickart (she/her) is a licensed, certified genetic counselor practicing in the Genomics Laboratory at Mayo Clinic, performing variant interpretation, report writing and test development for neurogenetics assays. She received her Master of Science degree in Genetic Counseling at the University of Minnesota and has extensive clinical experience in pediatric, neurology, and oncology genetic counseling prior to transitioning to her laboratory role. She has been awarded the academic rank of Assistant Professor of Laboratory Medicine at the Mayo Clinic College of Medicine and Science where she serves as course co-director of the Center for Clinical and Translational Sciences Molecular Variant Evaluation Course. She is also the course co-director of the Laboratory Practicum for the Medical College of Wisconsin Master of Science Genetic Counseling Graduate Program and Adjunct Assistant Professor of the Medical College of Wisconsin School of Graduate Studies.

In this segment we discuss:

- Origins and significance of the genetic counseling-specific practice resource for dystrophinopathies.

- Changes in the treatment landscape due to FDA-approved therapeutics and ongoing clinical trials for dystrophinopathies.

- Strategies for educating patients and families about the implications of genetic testing and diagnosis in dystrophinopathies.

- Advocacy roles of genetic counselors in helping patients access the latest therapies and participate in clinical trials for DMD/BMD.

- Importance of interdisciplinary collaboration in managing dystrophinopathies and the roles genetic counselors play within these teams.

- Potential broader impact of the practice resource on the medical field and patient community. 

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.

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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. 

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