DNA Dialogues: Conversations in Genetic Counseling Research

#3 Diagnostic Odysseys with Secondary and No Primary Findings

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 participant well-being.
 
As we conclude our exploration, it becomes evident that genetic testing transcends the realm of science, delving deep into the intricacies of human emotions and resilience. Through the insightful research of our guests, we gain valuable insights into the lived experiences of individuals navigating genetic testing, offering a glimpse into the profound impact of hope, disappointment, and adaptive coping mechanisms. 
 
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. 
 
Nominate your articles, or a colleagues, here and we may feature it on the show! 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. 

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

In our second episode, we explore two recent articles focusing on the intersection of the disability community and genetic counseling training and practice. 
 
Segment 1: “Disability education and implications for genetic counselor training”
 
Lauren Douglas (she/her) serves as an oncology genetic counselor and supervisor for graduate student rotations at MHealth Fairview in Minneapolis, MN. She received a degree in Genetic Counseling from the University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences in 2021. Outside of work, she finds joy in practicing yoga, enjoying the outdoors, and cheering on her favorite Minnesota sports teams.
 
Chelsea Wagner (she/her) is a seasoned genetic counselor specializing in prenatal and reproductive health. She is the outgoing chair for NSGC's Prenatal Special Interest Group and serves as reproductive health expert for NSGC's media panel. She is currently a Lead Genetic Counselor at BillionToOne. Chelsea identifies as a person with a disability courtesy of a brain injury acquired in 2019 and her experience living with chronic illness for almost two decades. 
 
Segment 2: “Experiences of genetic counseling students with disabilities and chronic illnesses: A qualitative study”
 
Rachel Epstein (she/her) is a 2022 graduate of the Boston University Genetic Counseling Program. She is currently working as a genetic counselor in the Neaman Center for Personalized Medicine at Endeavor Health in Evanston, IL, where she works primarily in adult cancer genetics.
 
During the episode we recommending the following resources:
NSGC Member Webinar Series: 2023 Community Conversations 
Disability in Genetic Counseling Group on Instagram @disabilitygc or email disabilitygc@gmail.com
 
Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.
 
Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”. 
 
For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. 
 
Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com. 
DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today’s Kira Dineen. Our logo was designed by Ashlyn Enokian.

#1 Rare Disease Family Experience (Chromosome 18 Conditions and Pediatric Oncology)

Welcome to the first episode of DNA Dialogues! Today is February 29th, 2024. It is a leap year, so today marks an extra special rare disease day. 
 
Rare diseases can impact so many people - from patients themselves, to families, to broader communities. To celebrate rare disease day, we are going to dive into two recent articles from the Journal of Genetic Counseling that showcase the rare disease experience. The following interviews provide insight into the wider impact of rare disease, with a special focus on families.
 
Segment 1: “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings”
 
Dr. Catherine Larson joins us in the first segment to talk about her recent article titled, “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings”. 
 
Dr. Catherine Larson is a Child and Adolescent Psychiatrist and a sibling to Elizabeth, who has a Chromosome 18 deletion. After earning her undergraduate degree, she worked as a research assistant at the Chromosome 18 Research Center, where she began her research on Sibling relationships. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. As a practicing psychiatrist, she opened her private practice in Austin, Texas, and she also returned to join the research team at the Chromosome 18 Research Center.
 
Dr. Catherine Larson is double Board Certified by the American Board of Psychiatry and Neurology in General Psychiatry and Child and Adolescent Psychiatry. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. In addition to her private practice, she is currently an Adjunct Assistant Professor at The University of Texas Health School of Medicine at San Antonio. 
Segment 2 “Families' experiences accessing care after genomic sequencing in the pediatric cancer context: ‘It's just been a big juggle’”
 
Authors Sarah Scollon and Blake Vuocolo talk about their recent Journal of Genetic Counseling paper in the pediatric cancer space. 
 
Sarah Scollon is an Assistant Professor in the Department of Pediatrics at Baylor College of Medicine and certified genetic counselor for the Texas Children’s Hospital Cancer Genetics and Genomics Program. She has served in dual clinical and research roles across the course of her career. Her research interests engage the overarching themes of (1) adaptation of genetic counseling practice to implement evolving technologies (2) optimization of patient-provider communication and education and (3) equity and inclusion for diverse populations in genetic medicine and research. Ms. Scollon has had a longstanding dedication to the care of children and families affected by cancer. She is an advocate for including genetic counseling into pediatric cancer care. She works to educate others on the role genetics and genomics can play in the care of patients with pediatric cancer and their families both from a clinical and psychosocial standpoint.
 
Blake Vuocolo is a certified research genetic counselor in the Department of Molecular and Human Genetics at Baylor College of Medicine. She graduated from the Baylor College of Medicine Genetic Counseling Program in 2022, and her thesis work focused on access to follow-up hereditary cancer care in underserved pediatric populations through the KidsCanSeq study. Currently, her work focuses on exome and genome sequencing of medically underserved populations with undiagnosed diseases throughout Texas. Ms. Vuocolo is passionate about finding sustainable ways to improving genomic health equity worldwide. Her interests include exploring access barriers to receiving genomic care in different healthcare contexts and improving genetics education for non-genetics healthcare providers in under resourced regions of the country and beyond.
 
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. 

Introducing DNA Dialogues

Welcome to DNA Dialogues, where we dive into the intricate world of genetic counseling research. We are excited to announce our pilot episode will be released on Rare Disease Day 2024 (Thursday February 29th). 
Listen for a sneak peek at what is coming up on the podcast.
Join us as we peel back the layers of groundbreaking articles from the Journal of Genetic Counseling, bringing you exclusive discussions with the authors themselves. Each episode sparks a vibrant exchange, exploring the latest discoveries, ethical dilemmas, and technological advances that are shaping the future of medical genetics. 
From navigating complex testing decisions to building trust with diverse communities, listen in as we unpack the science, challenge assumptions, and celebrate the human connection at the heart of genetic counseling research. 
So, grab your headphones, unravel the double helix, and prepare to be captivated by the array of voices in DNA Dialogues, a podcast where the blueprint of life meets intimate human conversation.