DNA Dialogues: Conversations in Genetic Counseling Research

DNA Today: Genetics Wrapped 2024: Top Advances in Genomic Medicine

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. 
 
Top 2024 Genomic Medicine Advancements
Testing and managing iron overload after genetic screening-identified hemochromatosis
Actionable genotypes and their association with lifespan in Iceland
Impact of digitally enhanced genetic results disclosure in diverse families
Chronic disease polygenic risk scores for clinical implementation in diverse US populations
Skeletal Muscle Ryanodine Receptor 1 Variants and Malignant Hyperthermia
Treating inherited retinal disease with gene-editing
Validation of a clinical breast cancer risk assessment tool for all ancestries
Broader access to clinical genome sequencing benefits diverse individuals with rare diseases
Benefits for children with suspected cancer from routine whole-genome sequencing
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records
 
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 info@DNAtoday.com. 

#11-Dystrophinopathies: A Practice Resource from the National Society of Genetic Counselors

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.
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.

#10- Family Health History: Communication and Decision Making

In this episode we discuss two papers that highlight the importance of communication around family health history and the influence of family beliefs on genetic testing decisions. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.
 
Segment 1: ““Family health beliefs and cascade genetic testing in Asian families with hereditary cancer risk: “Okay, now what?””
 
Leena Tran began her career as a cancer genetic counselor at Cedars-Sinai in 2022, after completing her Master's of Science in Human Genetics and Genetic Counseling at Stanford University. Originally from Southern California, she is grateful to have the opportunity to work with patients and providers within the greater Los Angeles area. Leena is passionate about facilitating both provider and patient-directed education, as well as improving health care access and experiences for patients of diverse backgrounds.
 
In This Segment We Discuss:
- The motivation behind exploring family health beliefs and cascade genetic testing in Asian families with hereditary cancer risk..
- Use of a constructivist approach in this study and rationale for choosing this methodology.
- Influence of shared health beliefs within families on decisions regarding genetic testing and family communication.
- Common strategies participants employed to discuss genetic testing with their relatives.
- Roles genetics providers play in facilitating family discussions about cascade genetic testing.
 
Segment 2: “Young adults' reasoning for involving a parent in a genomic decision-making research study”
 
Dr. Melanie Myers is a Professor in the Division of Human Genetics, in the Department of Pediatrics, at Cincinnati Children’s Hospital. She is the Co-Director of the Graduate Program in Genetic Counseling, a joint program between the University of Cincinnati and Cincinnati Children’s Hospital. Dr. Myers has a background in public health genomics with specific training in genetic counseling, public health, social and behavioral sciences, and applied epidemiology. Her research interests include the impact of integrating genomics into public health research and practice. Dr. Myers’s current NIH-funded work focuses on empowering adolescents from diverse backgrounds to participate in the decision-making process about learning genomic results. Myers obtained her MS in genetic counseling from the University of Cincinnati and her PhD in public health from the Johns Hopkins School of Hygiene and Public Health.
www.cincinnatichildrens.org/geneticcounselingprogram
 
Julia Pascal is an oncology genetic counselor at Virginia Cancer Specialists. She earned her masters in genetic counseling from the University of Cincinnati genetic counseling program in 2023. Originally from the Washington DC area, Julia is grateful for the opportunity to care for cancer patients in the community where she grew up. 
 
In This Segment We Discuss:
 
- Unique aspects of young adults' approaches to medical decisions compared to those of older adults.
- Influence of cognitive maturity on young adults' readiness to make independent health decisions, particularly in complex fields like genomics.
- Challenges encountered in designing a study that addresses both autonomous decision-making and parental influence.
- Role of healthcare providers in supporting young adults' transition to independent decision-making.
 
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 dna dialogues.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.

#9 Black Previvor and Survivor Breast Cancer Genetic Testing Experiences

In this episode we discuss a research study that focuses on Black women who tested positive for a pathogenic variant associated with an increased risk for breast cancer. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website. Please note that the terminology used refers to women to reflect the language used in the paper, and all genders can have a risk to develop breast cancer.
Segment 1: “A qualitative study of Black breast cancer previvors' and survivors' experiences after positive genetic testing”
Malika Sud (she/her) is a genetic counselor who specializes in fetal genetics and rare disease diagnosis. She works at the Manton Center at Boston Children's Hospital, where her projects focus on discovering genetic causes of rare disease, improving access to genetic testing/counseling, and support around perinatal loss. She also cares for people with high-risk pregnancies at the Maternal Fetal Care Center at Boston Children's Hospital. Malika's work is informed by her community activism and lived experience as a woman of color - she is a longtime advocate for reproductive justice and strives to center marginalized voices healthcare and research. She teaches at the Boston University Genetic Counseling Program and serves on the NSGC J.E.D.I. Stewardship Committee in an effort to make the genetic counseling field more inclusive for patients and colleagues. Malika’s Twitter handle is @malikasud
 
Erika Stallings is an attorney and writer based in Jersey City, NJ. In 2014 she learned that she carried a BRCA2 mutation and underwent a preventative mastectomy that same year. Since undergoing genetic counseling and testing she has worked to raise awareness of hereditary cancer with a specific focus on raising awareness in minority communities. Her writing about her experience with hereditary cancer as well as her work on health inequities has been published in NPR, O Magazine, The Cut, Jezebel and The New York Times. She is active on social media at the handle quidditch424 on X." 
In This Episode We Discuss:
- The origins of the study and the reasoning behind choosing this specific topic.
- Erika’s involvement as a patient advocate and how the team’s diverse backgrounds shaped the research approach.
- The five key themes uncovered in the study, with relevant participant quotes shared.
- Insights on how healthcare providers can improve support for Black women with genetic results indicating higher breast cancer risk.
- Discussion of the study’s potential impact on future research and changes in clinical practice.
 
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.

#2 Intersection of the Disability Community and Genetic Counseling Training/Practice

In our second episode, we explore two recent articles focusing on the intersection of the disability community and genetic counseling training and practice. 
 
Segment 1: “Disability education and implications for genetic counselor training”
 
Lauren Douglas (she/her) serves as an oncology genetic counselor and supervisor for graduate student rotations at MHealth Fairview in Minneapolis, MN. She received a degree in Genetic Counseling from the University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences in 2021. Outside of work, she finds joy in practicing yoga, enjoying the outdoors, and cheering on her favorite Minnesota sports teams.
 
Chelsea Wagner (she/her) is a seasoned genetic counselor specializing in prenatal and reproductive health. She is the outgoing chair for NSGC's Prenatal Special Interest Group and serves as reproductive health expert for NSGC's media panel. She is currently a Lead Genetic Counselor at BillionToOne. Chelsea identifies as a person with a disability courtesy of a brain injury acquired in 2019 and her experience living with chronic illness for almost two decades. 
 
Segment 2: “Experiences of genetic counseling students with disabilities and chronic illnesses: A qualitative study”
 
Rachel Epstein (she/her) is a 2022 graduate of the Boston University Genetic Counseling Program. She is currently working as a genetic counselor in the Neaman Center for Personalized Medicine at Endeavor Health in Evanston, IL, where she works primarily in adult cancer genetics.
 
During the episode we recommending the following resources:
- NSGC Member Webinar Series: 2023 Community Conversations 
- Disability in Genetic Counseling Group on Instagram @disabilitygc or email disabilitygc@gmail.com
 
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.

#8 Neurogenetics: Predictive Testing for ALS and Dynamic Coping in Pediatric Ataxia-Telangiectasia

In this episode we discuss research on patient and family experiences in neurogenetics. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website. 
 
Segment 1: “Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis”
Connolly Steigerwald is a certified genetic counselor at NYU Langone Health’s Division of Neurogenetics and Lysosomal Storage Disorders Program in NYC, where she assists in providing evaluations and genetic counseling for those with suspected or confirmed neurogenetic disorders. Her clinic population includes those with neurodevelopmental disabilities, epilepsies, neuromuscular disorders, dementias, white matter disorders, movement disorders, and lysosomal storage disorders. Connolly holds a Master of Science in Genetic Counseling from Columbia University, where she completed a specialty rotation in neurology with a focus on neurodegenerative and neuromuscular disorders such as amyotrophic lateral sclerosis. Her research interests include predictive genetic testing, lysosomal storage disorders, and implementation of genetic counselor led clinic models.
Elizabeth Harrington, MS, CGC, is an ABGC board-certified genetic counselor and Lecturer in the department of Neurology at Columbia University. Ms. Harrington received her graduate degree in human genetics and genetic counseling from the Stanford University School of Medicine.  Ms. Harrington provides genetic counseling expertise in neuromuscular, neurodegenerative, and motor neuron diseases, and specifically provides clinical genetic counseling to patients and families with ALS. In addition to her clinical and academic responsibilities, Ms. Harrington directs the ALS Families Project research study, a presymptomatic natural history study designed to understand the genetic underpinnings of genetic forms of ALS and the impact on affected families.
Link to the ALS Families Project: https://clinicaltrials.gov/study/NCT03865420
In this segment we discuss:
- How the experiences and decision-making processes for ALS risk compare to other neurodegenerative disorders, such as Huntington disease (HD).
- What influences individuals at risk for familial ALS/FTD to choose predictive genetic testing, including factors like religious affiliation.
- The psychological impact of testing positive for ALS-associated mutations is compared to those who test negative or opt out of testing, revealing significant emotional differences.
- Social support networks, whether from family, friends, or healthcare professionals, are critical for those processing genetic test results or managing their risk for ALS/FTD.
- The importance of integrating psychological care into the predictive genetic testing process to support individuals facing the risk of neurodegenerative diseases.
Segment 2: “How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty”
Victoria Suslovitch (Tori) is a genetic counselor and works as a genomic science liaison for the rare disease team at Ambry Genetics. She educates healthcare providers about genetic testing and genomic medicine, and aims to advance access, equity, and quality of genetics services. Prior, Victoria was a research genetic counselor at Boston Children's Hospital, for a study that develops genomically targeted therapies for children with rare neurological diseases. In this role, she worked closely with families of patients with ataxia telangiectasia. She received her Master of Science in Genetic Counseling degree from Boston University, and is certified by the American Board of Genetic Counseling. 
Julia Schiller works as a cancer genetic counselor at AdventHealth in Parker, CO. She attended Drake University for her undergraduate degree, and Boston University School of Medicine for her genetic counseling degree and is certified by the American Board of Genetic Counseling. Originally from Minnesota, she now enjoys all the outdoor adventures Colorado has to offer with her partner, Adam, and their dog, Sprocket. Her passionate for health equity and preventative care drive her to create a space for patients where they feel empowered in their own healthcare.
Link to the Ataxia Telangiectasia Children’s Project (ATCP): https://atcp.org
In this segment we discuss:
- Ataxia-Telangiectasia (A-T) - a pediatric movement disorder characterized by ataxia, immune deficiencies, and a higher risk of cancer, with symptoms often starting in early childhood.
- The similarities and differences in parental experiences as well as emotional and clinical challenges faced by families
- The five key themes that emerged: changes in parental responsibilities, shifts in family identity, evolving coping strategies, continuous uncertainty, and the importance of support from various sources.
- A-T’s progressive nature meant that coping and identity changes were ongoing, with parents turning to connections with family, medical teams, and other A-T families.
- Parents described emotional, logistical, and financial challenges associated with the diagnosis, highlighting the need for supportive and understanding healthcare providers.
 
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.

#7 Simulation and Leadership Development in Clinical Training for Genetic Counselors

Guests include Megan Cho to discuss her paper, “Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies” as well as Amanda Polanski and Ashley Kuhl to discuss their paper, “Leadership development in genetic counseling graduate programs.”
 
In this episode we discuss clinical training by exploring papers that discuss clinical simulation and leadership development. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website. 
 
Segment 1 “Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies”
 
Megan is the Associate Director of the Johns Hopkins/NIH genetic counseling training program.  Prior to that, as the Research Program Manager at GeneDx, she created and led a team working to discover and describe rare genetic disorders.  Megan has practiced clinically at Columbia/New York Presbyterian Hospital and was also adjunct teaching faculty at the Sarah Lawrence College genetic counseling program.  She serves as the Co-Chair of the GCEA Education Committee, past Chair of the NSGC Outcomes Committee, past Chair of the NSGC Research Special Interest Group, and has been a member of various task forces including the NSGC Research Task Force and the ACGC Practice Based Competencies task force.
 
In this segment we discuss: 
- Challenges posed by standardized tests in ensuring equity.
- Alternative methods proposed in the article for assessing competence in new genetic counseling graduates and trainees.
- Contrasts between formative and summative assessments in simulation-based education.
- Differences in assessment difficulty and methodology between genetics knowledge and counseling competence.
- Barriers and challenges in implementing simulation in large-scale certification exams in other fields.
 
Segment 2 “Leadership development in genetic counseling graduate programs”
 
Amanda Polanski is a certified genetic counselor at Minnesota Perinatal Physicians. She graduated from the University of Wisconsin-Madison Master of Genetic Counselor Studies program in 2023, and her research focused on characterizing the role of leadership development in genetic counseling graduate programs. Previously, she has done research on identification and diagnosis of familial hypercholesterolemia through the University of Minnesota. She currently enjoys providing compassionate and inclusive care to prenatal patients alongside other dedicated providers.
 
Ashley Kuhl, MS, CGC, is the Assistant Program Director at the Master of Genetic Counselor Studies program at the University of Wisconsin-Madison and an assistant professor (CHS) in the Department of Pediatrics. She enjoys working with genetic counseling and other health professions learners in various capacities and with patients and families in the UW Biochemical and Medical Genetics clinics at the Waisman Center. She began her clinic work in 2013 after completing her master’s degree in Medical Genetics from the UW-Madison Genetic Counseling Training Program.
 
In This Segment  We Discuss:
- Enhancement of genetic counselors' impact through leadership skills.
- Importance of intentional leadership development in advocating for patients and the profession, and the role of genetic counseling in broader healthcare advocacy efforts.
- The variation in the definition and understanding of leadership among program leaders, and its impact on leadership development within genetic counseling (GC) programs.
- Role of faculty in driving leadership development and effective strategies employed to instill leadership skills in GC students.
- Identification of current leadership development as a top area for improvement and actionable steps for programs to address this gap.
 
[Plug guest website and SM]
 
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. 
 

#6 Exploring Abortion Care: Reproductive Justice and Healthcare Professional Training in the Face of Changing Legislation

Guests include Gina Sanchez to talk about her paper, “Status of abortion curriculum in genetic counseling: Survey of graduate programs and recent graduates in the United States” and Dr. Holly Rankin to discuss her paper, “Termination counseling among US perinatal genetic counselors in the setting of second trimester fetal anomalies.”
 
Segment 1:
Gina Sanchez, MS, MB(ASCP), CGC is a genetic counselor and Instructor in the Department of Obstetrics, Gynecology, and Reproductive Sciences at the McGovern Medical School at The University of Texas Health Science Center at Houston. She received a BS in Zoology from Texas Tech University in 2012, a MS in Molecular Pathology from Texas Tech University Health Sciences Center in 2013, and a MS in Genetic Counseling from The University of Texas Genetic Counseling Program in 2022. Gina provides prenatal genetic counseling services in both English and Spanish at several Houston area clinics. She is a member of the National Society of Genetic Counselors and the Texas Society of Genetic Counselors. Gina's research interests include genetic counseling education and increasing access to genetic counseling care for the Spanish-speaking patient population.
In this segment, we discuss:
- Assessment of the abortion curriculum in genetic counseling graduate programs and the study participants.
- Variability in the amount and types of abortion training across surveyed programs.
- Factors influencing the training provided.
- Greater satisfaction and preparedness among graduates from programs with a dedicated abortion curriculum.
- Notable discrepancies between responses from recent graduates and program representatives.
- Key topics highlighted as important parts of abortion education.
- Variability in clinical training as a barrier to abortion education and potential solutions to standardize this education.
Segment 2:
Dr. Holly Rankin received her undergraduate degree in anthropology, graduating summa cum laude, from the University of California, Los Angeles. She completed her medical education at Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia where she was inducted into the Gold Humanism and the Alpha Omega Alpha Honor Societies. Dr. Rankin completed her residency training in Obstetrics and Gynecology at Johns Hopkins University, Baltimore. She received the Ryan Program Excellence in Family Planning Award at the end of residency training. Dr. Rankin is excited to be a Complex Family Planning fellow at UC Davis and plans to focus her career on providing abortion and contraceptive specialty care to underserved, rural communities.
In this segment, we discuss:
- The impact of state laws and location on counseling and termination options.
- Differences between genetic counselors and other healthcare providers in handling these cases.
- Balancing patient autonomy with counseling challenges.
- How reproductive justice affects the discussion of termination options, especially with changing abortion laws.
 
Follow us on Instagram @dnadialoguespodcast and on LinkedIn at Journal of Genetic Counseling.
 
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.
 

#5 Non-Invasive Prenatal Screening (NIPS) and Fetal Sex Prediction

In this episode we discuss navigating non-invasive prenatal screening, also known as non-invasive prenatal testing, by reviewing two articles covering genetic counseling insights, informed consent challenges, and inclusive practices. 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 fetal sex prediction by NIPT: Challenges and opportunities”
 
Chelsea Stevens is a clinical and research genetic counselor in the cardiovascular genetics clinic at Brigham and Women's Hospital. She has been working at BWH since 2022 and works primarily on projects aimed to understand genotype/phenotype relationships in cardiomyopathies. The publication we will be discussing today is the result of Chelsea's capstone project during her genetic counseling graduate education at the MGH Institute of Health Professions. She is from Connecticut and has been living in Boston for the past 6 years and loves working in a city with a strong genetic counseling network.
 
Courtney Studwell  is a laboratory genetic counselor in the Center for Advanced Molecular Diagnostics (CAMD) at Brigham and Women’s Hospital. In the cytogenetics laboratory, Courtney serves as a liaison to clinical providers ordering genetic testing and helps to implement updated testing protocols that reflect patient needs and the evolving landscape of genetic testing technologies. In addition to working in the laboratory, Courtney also sees patients in the Center for Fetal Medicine and Reproductive Genetics at Brigham and Women’s Hospital and is passionate about providing high-quality genetics care to patients at all stages of their reproductive process.
 
In this segment, we discuss:
- An overview of NIPS, its evolution and recommendations on utilizing it as a screening tool
- Insights into study participants’ clinical practices and training regarding inclusive language for sex and gender
- Challenges and misconceptions faced by providers when offering NIPS
- Recommendations to address issues related to challenges and misconceptions
 
Segment 2 "What knowledge is required for an informed choice related to non-invasive prenatal screening?"
 
Jill Slamon is an Assistant Professor in Obstetrics and Gynecology in the Vanderbilt School of Medicine and the founding Assistant Program Director of the Vanderbilt University Master of Genetic Counseling Program. Jill has over 12 years of clinical experience in reproductive and prenatal genetic counseling with unique experiences in preconception counseling in the queer community. Her research interests focus on topics ranging from genetic counseling education and training, genetic counseling outcome measures, patient-reported outcome measures, and experiences of queer patients seeking preconception and prenatal care. Jill earned a Bachelor of Science from the Lyman Briggs College at Michigan State University. She then earned a Master of Art in Teaching from National Louis University and a Master of Science in Genetic Counseling from Northwestern University in Chicago, IL.
 
In this segment, we discuss:
- The challenges in informed consent and fetal sex prediction in NIPS
- Professional guidelines related to informed consent and NIPS
- The multidimensional measure of informed choice (MMIC)
- Impact on decisional conflict among patients offered NIPS
 
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. 

#4 Discussing Gender Inclusive Terminology and Gender-Affirming Hereditary Cancer Care

In our fourth episode, we delve into the importance of gender-inclusive language in genetic counseling and the specific challenges transgender and gender-diverse (TGD) individuals face in accessing hereditary cancer care. You can find these articles in a special virtual issue of the Journal of Genetic Counseling which is free and open access for the month of June. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website. 
 
Segment 1 “Use of gender-inclusive language in genetic counseling to optimize patient care”
 
Heather Motiff graduated with a B.S. in Psychology from the University of Wisconsin-Whitewater in 2006. She has extensive experience working as a crisis response advocate and co-facilitating support groups for survivors of intimate partner violence. Heather discovered her interest in genetic counseling during her first pregnancy in 2010. She has served as a Community Resource Specialist and contributed significantly to gender-affirming care initiatives during her graduate studies at UW-Madison. Heather is now an oncology genetic counselor at SSM Health Cancer Care in Madison, WI, and is dedicated to providing inclusive, quality healthcare and genetic services.
 
In this segment we discuss:
- Specific examples and terms used in gender-inclusive language.
- Comfort levels of genetic counselors with using gender-inclusive language.
- Findings from thematic analyses on the use of gendered language and its impact on patient care.
- Suggestions for additional training resources for healthcare professionals.
Segment 2 “Experiences of hereditary cancer care among transgender and gender diverse people: “It's gender. It's cancer risk…it's everything”
 
Sarah Roth is a genetic counselor and a PhD candidate in Anthropology at Johns Hopkins University. She is a BRCA1 carrier whose research focuses on the experiences of patients, communities, and providers in cancer care and genomic medicine. Sarah has been a founding editor of Tendon at JHU’s Center for Medical Humanities & Social Medicine, a contributing writer at Synapsis: A Health Humanities Journal, and a recent predoctoral fellow in Bioethics at the National Institutes of Health.
 
In this segment, we discuss:
- Challenges faced by TGD individuals in accessing hereditary cancer care.
- Participants' perspectives on gendered language in healthcare.
- Actionable recommendations for healthcare providers to support TGD individuals with hereditary cancer syndromes.
 
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.