DNA Dialogues: Conversations in Genetic Counseling Research

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.

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

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

On This Episode We Discuss: 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 Dial

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

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.

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 C