DNA Today: A Genetics Podcast

#261 Tuberous Sclerosis Complex with Dr. Ian Miller

In this episode we are learning about tuberous sclerosis complex (TSC) and are joined by guest Dr. Ian Miller. 
 
Dr. Ian Miller is a pediatric epileptologist who specializes in pediatric epilepsy, including genetic epilepsy. He is an advocate for genetic testing in every individual with epilepsy, even if they already have a "syndrome".
 
He serves as Vice President in Clinical Development at Marinus Pharmaceuticals. Dr. Miller has 14 years of experience at Nicklaus Children's Hospital in Miami, where he most recently served as the Chair of the Neurology Department, and on the Board of Directors for First Choice Neurology (a private practice of over 80 neurologists). Within the hospital he was the founding Medical Director of the Ion Channel Epilepsy Program, co-Director of the Tuberous Sclerosis Program, and the Director of Neuroinformatics. 
 
Dr. Miller’s research experience includes participation in all five of the pivotal trials for cannabidiol, including one as a first author. He was also a primary investigator for fenfluramine, nasal diazepam, and neuropace, among others, and has provided input regarding trial design and endpoints for three early gene therapy candidates in SCN1A, and enrolled patients in one of them as PI. 
 
He is a member of the Medical Advisory Board for the Dravet Syndrome Foundation (DSF), and a member of the American Epilepsy Society. He is board certified in Neurology with a special qualification in Child Neurology, as well as Clinical Neurophysiology, Epilepsy, and Neuroimaging. Dr. Miller testified with the DSF at the FDA in 2018 regarding the need for an ICD10 code for Dravet syndrome, leading to the approval of the G40.83 and its subgroups in October of 2020. 
 
Dr. Miller received his M.D. degree from the University of Iowa, in Iowa City, where he grew up. He completed residency and fellowship training at the University of Utah and the University of Washington before completing Clinical Neurophysiology fellowship at Miami Children’s Hospital. 
On This Episode We Discuss:
Overview of TSC
Methods to diagnose TSC 
The genetics and potentially inheritance behind TSC
Common early signs of TSC include skin abnormalities, seizures, and developmental delays
Early intervention including medications and surgical procedures
Challenges faced by individuals with TSC include managing seizures and cognitive difficulties
The Marinus TSC clinical trial, currently in phase III
 
To learn more about participating in clinical studies for TSC, you can visit knowrare.com/tsc or trusttsctrial.com. You can also visit TSC Alliance, the organization that Dr. Miller recommended during the episode. 
 
Stay tuned for the next new episode of DNA Today on November 10th! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#260 PhenoTips: Population Genomics in Clinical Practice

We are sharing the twenty-fifth installment of the PhenoTips Speaker Series, which was hosted by our own, Kira Dineen. She interviewed a panel of international industry leaders in clinical genomics, Dr. Eric Green, Dr. Julian Barwell, and Dr. Fiona Brinkman, discuss the benefits, roadblocks, and practical implications of applying population genomics in clinical practice.
 
Applying population genomics in clinical practice has the potential to revolutionize healthcare by enhancing disease prediction, enabling personalized medicine, and advancing medical research. By leveraging the wealth of genomic information available, clinicians can provide more targeted and effective treatments, ultimately improving patient care and outcomes. However, essential concerns such as ethical considerations, data privacy, and the responsible use of genetic information, must be addressed as population genomics becomes an increasingly integral part of modern medicine.
 
Dr. Eric Green is the third appointed director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Appointed director by Dr. Francis Collins in 2009, Dr. Green has been at the Institute for more than 25 years, during which he has held multiple key leadership roles. He served as the Institute’s scientific director for 7 years, chief of the NHGRI Genome Technology Branch for 13 years, and founding director of the NIH Intramural Sequencing Center for 12 years. For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles in the Human Genome Project and groundbreaking work on mapping, sequencing, and characterizing mammalian genomes. During his career, Dr. Green has authored and co-authored over 385 scientific publications.
 
Dr. Julian Barwell is a consultant in clinical genetics at the University Hospitals of Leicester with a particular interest in public engagement, stakeholder group co-creation, and the implementation of genomic medicine projects. His outreach work includes launching the cancer genomics branch of the 100,000 genome project on the BBC Breakfast sofa, co-authoring the children's book, “What is DNA?”, as well as answering clinical queries for the National Hereditary Breast Cancer Helpline. In addition to his over 70 academic publications and chapters in four other books, he has helped establish prostate cancer tumour sequencing for BRCA pathogenic variants and led an awareness and outreach campaign for men at high risk of aggressive disease. Currently, Dr. Barwell is developing a digital genomic strategy including patient self-navigation guides for patients with Lynch syndrome, aiming to expand this to other patient groups. He is also developing an interventional research strategy and holistic care clinic for Fragile X syndrome in partnership with the Fragile X Society and Research Space, a clinical research facility he co-established. As a Professor at the University of Leicester, Dr. Barwell lectures on inherited cancer susceptibility, cancer genomics, bioethics, 21st-century healthcare, and working with different types of media.
 
Dr. Fiona Brinkman is a Distinguished Professor in Bioinformatics and Genomics at Simon Fraser University, most known for R&D of widely used software that aids more integrative, systems-based analyses of microbe and human genomics/transcriptomics data. She leads CHILDdb data integration, enabling more integrative analysis of diverse CHILD Cohort Study data, as well as co-leading development of the IRIDA platform, which is now used as the primary platform for Canada’s Public Health Agency to track infectious disease outbreaks using combined epidemiological, lab and genomics/metagenomics data. Dr. Brinkman enables better genomic data sharing in an ethical framework by co-coordinating two large consortiums consisting of researchers from 15 countries. Dr. Brinkman serves on several committees and Boards, including the Scientific Advisory Board for the European Nucleotide Archive, and has recently Co-Chaired a Pan-Canadian Cohorts Working Group. A fellow of the Royal Society of Canada, her awards include a TR100 award from MIT, Thompson Reuters “World’s Most Influential Scientific Minds”, and recently a Distinguished Alumni Award from the University of Waterloo and SFU Distinguished Professorship. Her interests include developing more preventative, sustainable approaches for disease control, using microbiome data as a sentinel for animal or ecosystem health, and factoring in Indigenous Science approaches.
 
Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her) has over a decade of podcast experience fueled by a passion for science communication. She has hosted and/or produced 7 podcasts including four rare disease/genetics shows. Her main genetics podcast, DNA Today, is in the top 1% of podcasts globally. The show has won the Best Science and Medicine Podcast Award for three years running, among others. DNA Today has produced 250 episodes and counting with support from over 50 sponsors. She was accepted into The Podcast Academy and previously served on NSGC’s Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science at Sarah Lawrence College and is a licensed certified genetic counselor currently practicing prenatal in Connecticut.
 
In this panel discussion, an international panel of leaders at the forefront of genomics discuss:
The optimal utilization and collection of genomic data
Challenges to applying population genomics in clinical care
The ethical considerations of data sets and methods to improve diversity
Advancing clinical care through delivery models, channels, and technologies
Best practices for leveraging population genomics in routine clinical care
 
If you want to hear more from Dr. Eric Green, check out his other two episodes on DNA Today: #182 about the complete human genome project and #214 recapping top genetic stories of 2022.
 
If you want to hear Dr. Julian Barwell discuss the 100,000 Genomes Project, listen to Episode 208 of DNA Today. 
 
Over the years we have shared multiple episodes of the PhenoTips Speaker Series, we recommend checking out all 25 episodes on their own podcast feed including Spotify and Apple Podcasts by searching “PhenoTips Speaker Series”. And our host Kira Dineen is the host of most of these installments!
 
Stay tuned for the next new episode of DNA Today on Friday November 3rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#259 NSGC 2023 Recap and Reflections

We want to acknowledge the war in the Middle East and its impact on this conference from a canceled session to protests close to the conference center. Regardless of how we view the war, it’s important we listen and support one another. 
 
You might be wondering why this episode was not released Friday morning like all of our episodes for the last few years… Well, we were busy at The National Society of Genetic Counselors Conference in Chicago which just wrapped. In order to be able to fully reflect on the conference we wanted to hold off on recording until the last day. Also this is why our host Kira Dineen’s voice is so strained because she was talking to so many of you. Our hearts are full! NSGC was incredibly fun this year! It was amazing to meet so many of you. Podcasting is very one way compared to other forms of digital media so it’s such a treat every year to meet people in person including many listeners who are genetic counselors and genetic counseling students. If we didn’t get to chat, please email in (info@DNAtoday.com). 
 
Host Kira Dineen (she/her) is joined by fellow genetic counselor Catherine Mayo to recap and reflect on NSGC this year. Catherine Mayo (she/her), is a Genomic Science Liaison at Ambry Genetics. She is a board-certified genetic counselor interested in rare diseases, increased access to genetics services, and social justice in healthcare. She has previous experience in biotechnology and drug development in the Bay Area. Opinions in this episode are her own. 
 
Check out Catherine’s other appearance on DNA Today where we chatted about the film Gattaca, mostly how much technology in the film is no longer fiction. That’s Episode #110. We recorded this when we were roommates in grad school together and are members of Sarah Lawrence’s Class of 2020. 
 
October is also the 26th year anniversary of the movie’s release so our Patreon group is hanging on Zoom later this month to nerd out about it together! If you haven’t watched it, Gattaca is about a futuristic society where there is this disparity between people who were naturally conceived and those who were conceived through ART and are “designer babies”. 
 
National Society of Genetic Counselor (NSGC) 2023 Conference Sessions Discussed:
You Can Do It, Too! Genetics Content Creation and Science Communication via TikTok, Instagram, Podcasting, YouTube, LinkedIn and More
Janus Lecture - Family History: Exploring the Roots and Branches
NSGC Professional Issues Panel: How to “Widen the Frame” and Bring Intersectionality to Your Genetic Counseling Practice
Plenary Session: Say My Name, Say My Name: It's Time to Discuss the Problem with the Name "Genetic Counselor"
More info and discussion here
The Most Important Omics of All: Economics of Healthcare Across Private, Public, and Not-for-Profit Organizations
How to Build a Somatic Testing Protocol in Oncology: We’re Building the Plane While We’re Flying It
Late Breaking Plenary Session: Embracing Artificial Intelligence in Genetic Counseling: Transforming Patient Care and Enhancing Clinical Outcomes
 
Readings Referenced:
The Practical Guide to the Genetic Family History By Robin Bennett (March 2010)
The Spring of Sight By Rob Boscacci (May 2023)
Abandoning the word Caucasian (Oct 2023)
Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors (Sept 2022) 
Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors (Sept 2008)
Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors (Sept 1995)
Comparison of Ophthalmologist and Large Language Model Chatbot Responses to Online Patient Eye Care Questions (Aug 2023)
Scientists release a new human “pangenome” reference (May 2023)
 
DNA Today Podcast Episodes Referenced:
#110 Gattaca, 22 Years Later 
#182 Eric Green on the Complete Human Genome Project
#189 Building Inclusive Pedigrees with PhenoTips
#231 ChatGPT and AI In Genetics with Daniel Uribe
#235 Genetic Counseling History: ABGC Formation
#243 PhenoTips: Navigating Barriers in LGBTQIA+ Genetic Care
 
Curious about other NSGC conferences? We have recapped the last five years of conferences including 2019, 2020, 2021, and 2022. 
 
Stay tuned for the next new episode of DNA Today this Friday! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 
 

#258 Human Touch of Variant Interpretation with Blueprint Genetics

Prepare to uncover the mystifying realm of genetics as we bring you a thought-provoking conversation with Meena Mahey Kumar and Laura Fuqua from Blueprint Genetics. Together, we'll explore the pivotal role that human touch plays in interpreting genetic data, emphasizing the irreplaceable importance of meticulous analysis and individualized patient care. You'll learn how their unwavering dedication to transparency in classifying variants is a game-changer in patient outcomes.
 
You'll be captivated as Meena and Laura recount a riveting real-life instance of how technology, clinician collaboration, and data interpretation converged to bring about transformative medical management for a pregnant patient. Discover the intriguing concept of mosaicism and its profound influence on genetic interpretation. They will also shed light on the challenges and nuances of genetic testing, underscoring the vital necessity of human involvement in this complex process.
 
Our guests will also reveal how their trailblazing team at Blueprint Genetics has created innovative tests, pushing the envelope in coverage and detection of smaller deletions. We'll delve into the complexities of genetic testing and introduce you to the bioinformatics team's contribution at Blueprint Genetics. You'll understand how their unique 'human touch' continues to enhance patient care. Meena and Laura discuss the ongoing evolution in the field of genetics and how we can leverage these advancements to better serve patients and the wider community. 
 
Meena Mahey Kumar is the Senior Director of Clinical Genomics and supports the clinical genomics services (CGS) team at Blueprint Genetics. She actively volunteers in the Quest Inclusion and Diversity Council. She is board certified in genetic counseling by the American Board of Genetic Counseling and earned her Master of Science in Human Genetics from Sarah Lawrence College, NY. She is passionate about genomics in patient- centered healthcare and diversity in genomics. She supports efforts to make high quality genetic diagnostics accessible across the world and works to continuously add to the knowledge and conversation in genomics. Meena has worked in a pediatric, adult and prenatal genetics clinic setting before working in commercial genetics laboratories leading sales & marketing, and clinical genomics services initiatives. She believes in strong partnerships between clinic and lab for best patient outcomes.
 
Laura Fuqua is a Genomic Variant Scientist for Blueprint Genetics. As part of the global Clinical Interpretation team, she analyzes variants for their pathogenicity in human disease and collaborates across Blueprint and Quest to build genomic services. A proud member of the BpG Inclusion and Diversity subcommittee and the Quest Pan Asian Business Leaders provides opportunities for a welcoming and thriving workplace. Laura maintains active board certification by the American Board of Genetic Counseling and earned a master’s degree in genetic counseling from Brandeis University. Laura’s previous decade-long experience encompasses caring for and managing comprehensive medical care for patients with a personal or family history of genetic conditions, notably hereditary cancer and maternal fetal medicine. Currently, she is a member of the ClinGen Consortium TP53 gene expert panel, working to elucidate the clinical significance of VUSs for patients with Li Fraumeni syndrome.  
 
Learn more at blueprintgenetics.com and follow Blueprint Genetics on X (Formly Twitter), Facebook, and LinkedIn. 
 
Stay tuned for the next new episode of DNA Today where we will be recapping the National Society of Genetic Counselors’ Annual Conference in Chicago next week! Our host, Kira Dineen, will be there, so say hi if you run into her. Blueprint Genetics will also have a booth at NSGC so stop by as you explore the exhibit hall. 
 
New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#257 A CRISPR Bite

If you are a long time listener of DNA Today you know how fascinating and frightening we find CRISPR, you must be too if you clicked on this episode. So I wanted to share with you a new podcast I have started listening to called A CRISPR Bite. This is the first episode to get you hooked. 
 
CRISPR gene-editing technology came out as a massive biotech breakthrough in the last decade, but most people have still never heard of it. A CRISPR Bite is a five-part podcast series where food anthropologist Dr. Lauren Crossland-Marr takes listeners into the labs where researchers are tinkering with food genes, to help break down the problems they’re hoping to solve – and what’s at stake.
 
Stream the other four parts of this podcast series by searching, “A CRISPR Bite” in your podcast app. Let me know if you enjoy it as much as I am!
 
And if you finish the series and want more episodes that discuss CRISPR, I recommend listening to DNA Today’s Episodes 197, 198 and 84. 
 
Stay tuned for the next new episode of DNA Today next Friday on October 13th where we explore the interpretation side of reporting and discuss how important the “human touch” element is to the process. For this conversation I will be joined by Blueprint Genetics’ Senior Director of Clinical Genomics’ Meena Mahey Kumar and Genomic Variant Scientist Laura Fuqua. If you are going to the NSGC conference in Chicago in a couple weeks then be sure to stop by the Blueprint Genetics Booth!
 
New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 
 

#256 Genetic Counselor Burnout with Tiana Rogers and Nira Johnson Part 2

This is the second half of our conversation about an important topic in genetic counseling that is not talked about enough, burnout and transitioning to roles outside of the field. Joining us for this conversation are genetic counselors, Tiana Rogers and Nira Johnson.
Before you listen to this episode please listen to the first part of the discussion on Episode #255.
Tiana Rogers is an aspiring digital designer and board-certified genetic counselor with direct patient care experience in prenatal and cancer genetics. She is currently a Content Consultant at My Gene Counsel where she investigates gene- and variant-specific updates and translates them into plain language for patients and caregivers, and a Genetic Counselor at Grey Genetics. She received her B.S. in Evolutionary Biology from Stony Brook University, and her M.S. from the Joan H. Marks Graduate Graduate Program in Human Genetics at Sarah Lawrence College (same class as our host Kira Dineen!). 
Nira Johnson is a genetic counselor turned graphic designer, who spent more than 10 years in cancer and prenatal genetics (mostly in industry) and about 5 years in graphic design. Now, her main goal is making accurate, patient- and provider-focused educational materials as well as science-focused art. She currently works as a graphic designer and consultant for Global Genes, and a marketing and development consultant for Clover Genetics. Nira also founded and owns her own freelance medical graphic design agency, Designs by NKJ! She received her AssociatesDegree in Graphic Design from Rasmussen University, and her M.S. in Genetic Counseling from Brandeis University. 
On This Episode We Discuss:
How the field of genetic counseling and healthcare organizations can better address burnout and mental health challenges among practitioners and support well-being and career satisfaction 
Pursuing alternative career paths outside of genetic counseling and how GC skills can transfer to other roles
Creating awareness, especially for prospective and current GC students, within the genetic counseling community about the potential for burnout and the importance of mental health
Advice for current genetic counselors who may be experiencing burnout or contemplating a career change
Hopes for the future of genetic counseling and how it can continue to positively impact patients and practitioners alike
While recording this episode, both of our guests were adamant about continuing this important conversation surrounding burnout in genetic counseling, and they encourage anyone who is currently battling burnout or trying to prevent it to reach out to them via LinkedIn here: Tiana Rogers and Nira Johnson. Or email into info@DNAtoday.com and we will forward your message to them directly. 
Stay tuned for the next new episode of DNA Today on October 6th. New episodes are released every Friday. In the meantime, you can binge over 255 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on X, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#255 Genetic Counselor Burnout with Tiana Rogers and Nira Johnson Part 1

Over the next two episodes, we are discussing an important topic in genetic counseling that definitely is not talked about enough, burnout and transitioning to roles outside of the field. Joining us for this conversation are genetic counselors, Tiana Rogers and Nira Johnson.
Tiana Rogers is an aspiring digital designer and board-certified genetic counselor with direct patient care experience in prenatal and cancer genetics. She is currently a Content Consultant at My Gene Counsel where she investigates gene- and variant-specific updates and translates them into plain language for patients and caregivers, and a Genetic Counselor at Grey Genetics. She received her B.S. in Evolutionary Biology from Stony Brook University, and her M.S. from the Joan H. Marks Graduate Graduate Program in Human Genetics at Sarah Lawrence College (same class as our host Kira Dineen!). 
Nira Johnson is a genetic counselor turned graphic designer, who spent more than 10 years in cancer and prenatal genetics (mostly in industry) and about 5 years in graphic design. Now, her main goal is making accurate, patient- and provider-focused educational materials as well as science-focused art. She currently works as a graphic designer and consultant for Global Genes, and a marketing and development consultant for Clover Genetics. Nira also founded and owns her own freelance medical graphic design agency, Designs by NKJ! She received her AssociatesDegree in Graphic Design from Rasmussen University, and her M.S. in Genetic Counseling from Brandeis University. 
On This Episode We Discuss:
Tiana’s and Nira’s journeys to becoming genetic counselors and the most rewarding aspects of their roles  
Factors that can contribute to GC burnout
Challenges our guests faced while working in clinic and non-direct patient setting and how did they impacted their mental health
Strategies and resources to help cope with burnout and support to address mental health concerns in the GC field
How the field of genetic counseling and healthcare organizations can better address burnout and mental health challenges among practitioners and support well-being and career satisfaction 
Pursuing alternative career paths outside of genetic counseling and how GC skills can transfer to other roles
While recording this episode, both of our guests were adamant about continuing this important conversation surrounding burnout in genetic counseling, and they encourage anyone who is currently battling burnout or trying to prevent it to reach out to them via LinkedIn here: Tiana Rogers and Nira Johnson. Or email into info@DNAtoday.com and we will forward your message to them directly.
Be sure to check out our social media channels for details to enter our giveaway of artwork from Nira! 
Stay tuned for the next new episode of DNA Today on September 29th, 2023 where we’ll be continuing our conversation with Tiana and Nira on genetic counseling burnout! New episodes are released every Friday. In the meantime, you can binge over 255 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#254 Bardet Biedl Syndrome with The Alms

This episode was originally released on It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes Kira joins the podcast as a guest host especially for genetic topics, like in this episode. 
It Happened To Me is a rare disease and medical challenges podcast. The mission of the show is to create community as listeners confront the toughest challenges in life. All of us will experience health hardships. The real question is, how do we adapt? That’s the focus of It Happened To Me. The podcast explores how to overcome limitations and live a full and satisfying life. Drawing on their own health challenges, hosts Cathy Gildenhorn and Beth Glassman interview guests who share stories and research to help others succeed in the face of difficult health obstacles.
In this episode, parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett’s condition is a rare genetic disorder.  People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations. You can learn more about Everett in this article. 
We are sharing this episode in preparation for Bardet Biedl Syndrome awareness day on September 24th, 2023! Join us in sharing this episode on social media to raise awareness. 
This interview explores…
Basics of Bardet Biedl Syndrome (BBS)
What their OB/GYN discovered 
Meeting with prenatal genetic counselor
Testing during pregnancy and after birth
Sequence of tests leading to BBS diagnosis
When and how they learned about the condition
Coping with the diagnosis news
Timing of Everett's BBS diagnosis
Outlook for quality and length of Everett's life
Everett's current quality of life and symptoms
Experience with seizures, onset, and medication
Vision loss, adaptation, and legal blindness
Dealing with obesity or insatiable hunger
Participation, goal and outcome of the clinical trial
Surgeries for extra fingers and toes
Everett's current status as a teenager
Additional symptoms developed since childhood
Remaining BBS symptoms not experienced by Everett
BBS community, connections, and resources
Advice for parents of undiagnosed diseases
 
This was the first part of the conversation, for the second half check out Episode 12 of It Happened To Me on Apple Podcasts, Spotify, or any other podcast player by searching, “It Happened To Me”. Learn more about the show on their website. 
 
Stay tuned for the next new episode of DNA Today! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 
 

#253 Inborn Errors of Immunity with Felicia Morton and Torry Howell

In this episode we are discussing inborn errors of immunity, with a particular focus on chronic granulomatous disease (CGD). Joining us for this episode is rare disease advocate, Felicia Morton, and genetic counselor, Torry Howell. 
 
Felicia Morton, is the Founder and Executive Director of the CGD Association of America. Felicia has been a well-known advocate for the CGD community for more than a decade armed with her family’s personal experience. 
 
Torry Howell, is a clinical genomic liaison at Blueprint Genetics. She received her Master of Science in Genetic Counseling from the University of Texas and MD Anderson Cancer Center in Houston, Texas.
On This Episode We Discuss:
Inborn errors of immunity (IEIs) and types of conditions that fall under this umbrella term
Genetic testing for IEIs and how earlier diagnosis can impact a patient’s treatment decisions
Chronic granulomatous disease (CGD)
Felicia’s personal experience as a carrier of CGD and parent of a son with CGD
Stem cell treatment for CGD
The importance of collaboration between patients, caregivers, advocacy groups, and medical experts in improving the lives of those affected by CGD and IEIs
 
Important links and resources mentioned during the episode:
NIH’s Division of Allergy, Immunology, and Transplantation
CGD Association of America
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee 
 
Stay tuned for the next new episode of DNA Today on September 15th, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

#252 Pierre Robin Syndrome with Corinne Merlino

This episode was originally recorded for It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes Kira joins this podcast as a guest host especially when there will be genetic topics, like in this episode. 
 
This episode was extra special as DNA Today’s Communications Lead Corinne Merlino was the guest! Corinne was also a guest on Episodes 245 and 246 where we answered listener’s questions about the genetic counseling graduate school application process. This was recorded in NBC Universal’s Stamford Studios so we recommend watching it on YouTube! 
 
Corinne was born with Pierre Robin Syndrome, a rare congenital birth defect that affects craniofacial development. Navigating life as a patient from a young age sparked her passion for science, medicine, and advocacy, and ultimately inspired her to pursue a career in genetic counseling.
 
Corinne currently works as a clinical research coordinator for -The Palliative and Advanced Illness Research- or (PAIR) Center- at The University of Pennsylvania. There she supports multiple studies focused on improving the effectiveness and efficiency of specialty palliative care services for seriously ill patients. 
 
In 2020, Corinne received her B.S. in Biology and Healthcare Ethics from Saint Joseph's University. Corinne is currently a graduate student in genetic counseling at the University of Pennsylvania.
 
During the episode we mentioned Philly Phaces and the book and film Wonder. 
 
Stay tuned for the next new episode of DNA Today on September 8th where we will discuss inborn errors of immunity with a Blueprint Genetics clinical genomic liaison, Torry Howell and the Founder and Executive Director of the CGD Association of America, Felicia Morton. 
 
New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. 
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Episodes in the last three years have also been recorded with video which you can watch on our YouTube channel.  
 
DNA Today is hosted and produced by Kira Dineen. Our Communications Lead is Corinne Merlino. Our Video Lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer is Ashlyn Enokian.