Episodes

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

    #11-Dystrophinopathies: A Practice Resource from the National Society of Genetic Counselors
    Dec 26 2024
    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.
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    31 mins
  • #10- Family Health History: Communication and Decision Making

    #10- Family Health History: Communication and Decision Making
    Nov 28 2024
    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.
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    44 mins
  • #9 Black Previvor and Survivor Breast Cancer Genetic Testing Experiences

    #9 Black Previvor and Survivor Breast Cancer Genetic Testing Experiences
    Oct 31 2024

    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.
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    45 mins
  • #2 Intersection of the Disability Community and Genetic Counseling Training/Practice

    #2 Intersection of the Disability Community and Genetic Counseling Training/Practice
    Oct 8 2024

    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.

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

    #8 Neurogenetics: Predictive Testing for ALS and Dynamic Coping in Pediatric Ataxia-Telangiectasia
    Sep 26 2024
    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 ...
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    49 mins
  • #7 Simulation and Leadership Development in Clinical Training for Genetic Counselors

    #7 Simulation and Leadership Development in Clinical Training for Genetic Counselors
    Aug 29 2024
    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.
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    46 mins
  • #6 Exploring Abortion Care: Reproductive Justice and Healthcare Professional Training in the Face of Changing Legislation

    #6 Exploring Abortion Care: Reproductive Justice and Healthcare Professional Training in the Face of Changing Legislation
    Jul 25 2024

    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.
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    32 mins
  • #5 Non-Invasive Prenatal Screening (NIPS) and Fetal Sex Prediction

    #5 Non-Invasive Prenatal Screening (NIPS) and Fetal Sex Prediction
    Jun 27 2024
    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.
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    49 mins