Episodes

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

    #4 Discussing Gender Inclusive Terminology and Gender-Affirming Hereditary Cancer Care
    May 30 2024

    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.

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    43 mins
  • #3 Diagnostic Odysseys with Secondary and No Primary Findings

    #3 Diagnostic Odysseys with Secondary and No Primary Findings
    Apr 25 2024
    To celebrate DNA Day we are releasing our April episode exploring concepts related to the diagnostic odyssey, whole genome sequencing, and results returned. Segment 1: A Journey of Hope and Resilience In our first segment, we delve into the research conducted by Celine Lewis, focusing on the emotional impact of receiving a "no primary finding" (NPF) result from genome sequencing. This recent JoGC paper is titled, “The disequilibrium of hope: A grounded theory analysis of parents' experiences of receiving a “no primary finding” result from genome sequencing.” Celine's study uncovers the multifaceted journey of parents grappling with the absence of a definitive diagnosis for their children. Through grounded theory analysis, two primary themes emerge: "Striving to Solve the Unsolved Puzzle" and "Navigating Hope, Lost then Found." These themes encapsulate the oscillating emotions of hope, disappointment, and resilience experienced by parents amidst the diagnostic odyssey. Dr. Celine Lewis is a behavioural scientist working in the field of genetic and genomic medicine. She is currently at University College London Institute of Child Health, and is an NIHR Advanced Fellow. Her work focuses on how patients and families relate to, communicate and make decisions around personal genetic information, and the subsequent behavioural, psychological and social outcomes. Through her research, Celine has worked with a range of key stakeholders including researchers in the UK and abroad, healthcare professionals and policy makers as well as voluntary organisations, patients and families. She is regularly invited to present at UK and international conferences and meetings and is increasingly asked to present her research findings to organisations such as NHS England and the Department of Health. Key Insights from Segment 1: - The importance of understanding the emotional dimensions of genetic testing, especially for families receiving inconclusive results. - The dynamic role of hope as both a motivator and a coping mechanism throughout the diagnostic journey. - Suggestions for pre and post-test counseling strategies to support families navigating genomic testing, emphasizing the significance of managing expectations and fostering adaptive hope. Segment 2: Systematic Review of Secondary Findings In our second segment, we explore a systematic review conducted by Lucas Mitchell and Dr. Amanda Willis, focusing on the uptake and outcomes of returning secondary findings to research participants. This recent JoGC article is titled, “Systematic review of the uptake and outcomes from returning secondary findings to adult participants in research genomic testing.” Through rigorous analysis of existing literature, Lucas and Amanda illuminate key insights into the prevalence of secondary findings and their psychological, medical, and ethical implications. Their review underscores the critical role of researchers in navigating the complexities of result return, highlighting considerations for enhancing participant engagement and support. Lucas Mitchell is a research genetic counsellor at the Garvan Institute of Medical Research in Sydney, Australia. He contributes to the My Research Results genetic counselling platform, an evidence-based service that supports researchers in delivering actionable research genomic findings to participants nationwide. With a Master of Genetic Counselling from the University of Technology Sydney, Lucas is passionate about helping participants and their families in understanding their research findings and facilitating access to ongoing support. Lucas’s current research interests lie within the application of genomics and returning secondary findings, and the intersection of genetic healthcare with diverse communities and improving inclusion and accessibility. Dr. Amanda Willis is a research genetic counsellor at the Garvan Institute of Medical Research. After completing a Master of Genetic Counselling in 2013, Amanda worked as a cancer genetic counsellor in Australia and the UK and completed a PhD in 2018. Amanda’s current work is centred around the My Research Results program, developed to help research participants access their genetic information. Amanda provides genetic counselling to research participants who receive a genetic result and conducts research to understand the experiences of these participants. Through this work, she aims to increase access to genomic information and improve outcomes for research participants and their families. Key Insights from Segment 2: - The significance of secondary findings in research genomic testing and the need for comprehensive strategies to address participant needs. - Key findings regarding the uptake of secondary findings and diverse outcomes experienced by research participants. - Implications for researchers, healthcare providers, and policymakers in optimizing result return processes and promoting ...
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    43 mins