DNA Today: A Genetics Podcast

Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more. ***Best 2020, 2021, and 2022 Science and Medicine Podcast Award Winner*** Learn more (and stream all 300+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com.

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Episodes

4 days ago

I launched a brand new science podcast network called Gene Pool Media, two weeks ago on DNA Day, April 25th. The response has been amazing, so thank you to everyone who has been supportive, especially the podcasts that have joined the network including…
 
RealPharma
Beyond The Thesis with Papa PhD
DNA Dialogues
It Happened To Me
#ThroughTheGenes
Demystifying Genetics
PhenoTips Speaker Series 
All Access DNA
Two brand new shows debuting this year: one in the rare disease space and another exploring the intersection of health science, religion, and spirituality. 
 
Over the years we have shared episodes of DNA Dialogues, It Happened To Me and PhenoTips Speaker Series. And we had the hosts of #ThroughTheGenes and Demystifying Genetics on the show. And I’ve been a guest on RealPharma. So these are all podcasts that were already in our circle, it’s just more official now! 
 
If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. 
 
In this episode drop of Demystifying Genetics where I was actually a guest. This podcast is hosted by an Australian genetic counselor Dr. Matt Burgess. Matt interviews me about my journey as a high school starting this genetics podcast from my childhood bedroom to becoming a genetic counselor and now multi-award winning podcast. The conversation explores the nuances of genetic counseling, the impact of technology like CRISPR, and the unexpected connections that shape careers in genetics. Matt was also a guest way back in 2020 on Episode #114 on DNA Today when I was still a grad student. 
 
Episode Topics: 
 
Kira discusses her personal journey into genetic counseling 
Emphasises the balance between technical skills and patient care 
Addresses common misconceptions about the emotional weight of the profession 
Shares insights into the groundbreaking use of CRISPR technology 
Highlights the importance of podcasting in enhancing professional growth 
Explores the unexpected recognition from Kourtney Kardashian’s blog 
 
Any inquiries for Demystifying Genetics podcast can be through Matt’s LinkedIn. 
Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 
While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”
Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Friday May 02, 2025

A week ago on DNA Day, April 25th, I launched a brand new science podcast network called Gene Pool Media. The response has been amazing, so thank you to everyone who has been supportive, especially the podcasts that have joined the network including…
RealPharma
Beyond The Thesis with Papa PhD
DNA Dialogues
It Happened To Me
#ThroughTheGenes
Demystifying Genetics
PhenoTips Speaker Series 
All Access DNA
Two brand new shows debuting this year: one in the rare disease space and another exploring the intersection of health science, religion, and spirituality. 
And All Access DNA, which you are about to hear one of their recent episodes. I figured that would be a perfect way to celebrate the launch of Gene Pool Media. 
 
Over the years we have shared episodes of DNA Dialogues, It Happened To Me and PhenoTips Speaker Series. And we had the hosts of #ThroughTheGenes and Demystifying Genetics on the show. And I’ve been a guest on RealPharma. So these are all podcasts that were already in our circle, it’s just more official now! 
 
If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. 
 
In this episode drop of All Access DNA you will hear from genetic counselor Sarah Bannon, who discusses the complexities of inherited blood cancers, particularly leukemia. The host of All Access DNA is Kate Wilson; who will sound familiar as she is a co-host on the journal of genetic counseling’s podcast, DNA Dialogues and a podcast from the National Society of Genetic Counselors. 
 
In this conversation, Sarah Bannon discusses the complexities of inherited blood cancers, particularly leukemia, and the evolving role of genetic counseling in understanding and managing these conditions. She highlights the historical context of genetic research in blood cancers, the importance of family history in assessing risk, and the advancements in genetic testing that have led to better identification of hereditary cancer syndromes. The conversation also covers the implications of genetic testing results for patients and their families, the challenges faced in the field, and the rewarding aspects of working in this emerging area of genetic counseling.
 
On This Episode We Discuss:
What inherited blood cancers are and how they may run in families
There are many known genes linked to hereditary blood cancers
How genetic testing can help monitor family members for early signs of cancer.
The role of clinical trials to explore preventative treatments for those at risk.
 
Sarah is a genetic counselor with over 14 years of experience in cancer genetics, specifically leukemia and lymphoma. She is a widely sought expert on hereditary predispositions to hematologic malignancy, which has been the focus of her clinical care and research. Sarah works as a genetic counselor at the National Institute of Allergy and Infectious Diseases (NIAID).
 
Here are more resources related to today’s topic, blood and bone marrow cancers:
National Marrow Donor Program and Be The Match
Leukemia and Lymphoma Society
Clinicaltrials.gov tracks all clinical trials available in the US
Team Telomere - A Community for Telomere Biology Disorders
RUNX1 Research Program
Findageneticcounselor.org to find a genetic counselor near you
 
Any inquiries for All Access DNA podcast can be sent to AllAccessDNA@gmail.com. Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 
Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 
While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”
Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

Friday Apr 25, 2025

Urea cycle disorders (UCDs) are rare inborn errors of metabolism (IEMs) caused by enzyme or transporter deficiencies in the urea cycle, which is responsible for protein metabolism. These conditions can present at any age with acute, chronic, and intermittent symptoms of hyperammonemia. The first UCD was described over 50 years ago and while many “unknowns” about UCDs still remain, the way we think about and treat these conditions today is evolving.
In this second episode of a series focused on the evolution of UCD management, we discuss social determinants of health (SDOH) and how they impact patients with UCDs, examine the psychosocial burden of living with a chronic condition, and highlight how the multidisciplinary metabolic team can help patients and families overcome barriers to UCD management.
Kendra J. Bjoraker, PhD, LP, is a pediatric neuropsychologist who specializes in rare genetic conditions. She served as faculty at the University of Minnesota and Children’s Hospital Colorado/University of Colorado and operates a dedicated practice, Bjoraker Neuropsychology Consultants, PLLC. Dr Bjoraker’s mission is to help identify and address psychosocial issues in patients with rare disorders in order to alleviate stressors associated with living with chronic conditions.
Erika R. Vucko, APRN-NP, FNP, is a metabolic nurse practitioner at Ann & Robert H. Lurie Children’s Hospital of Chicago and faculty at the Northwestern University Feinberg School of Medicine. She is also the PKU Clinic Director at Lurie Children’s, co-created APRN metabolic follow-up clinic for patients with IEMs, and acts as a principal investigator for multiple clinical trials. She has provided clinical care for many patients with UCDs, among other genetic conditions. Her clinical interests include metabolic research, newborn screening, and lysosomal storage disorders.
On This Episode, We Discuss:
How socioeconomic and psychosocial factors impact a patient’s ability to engage in their UCD management
Best practices and opportunities for multidisciplinary metabolic clinicians to support the care of patients with UCDs and their families
Available resources to help patients navigate SDOH and mental health barriers to UCD management
Related Episodes:
Episode #323: Supporting Ongoing Urea Cycle Disorder (UCD) CareA discussion about how clinicians can better engage patients in their own care to help them sustain their daily UCD management needs
  Episode #282: The Evolution of Caring for Females With OTC DeficiencyA conversation about ornithine transcarbamylase (OTC) deficiency, the most commonUCD, and how care for symptomatic heterozygous females has evolved over time
 
Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! Youcan always count on us to deliver fresh content every Friday. 
 
While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”
 
Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios.Check them out on our YouTube channel! 
 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our VideoLead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. This episode issponsored by AMGEN.
 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
 
USA-RABU-80050 04/25

Friday Apr 18, 2025

Submitting a research paper for publication can be an overwhelming process, especially for early-career researchers. How do you choose the right journal? What are editors really looking for? And how can you improve your chances of acceptance? 
 
To answer these questions and more we are joined by two editors from Wiley’s Advanced Portfolio. Dr. Lei Lei is a Senior Manager of Wiley’s Advanced Portfolio and Deputy Editor of Advanced Science. Dr. Alanna Gannon is Deputy Editor of Advanced Science and Advanced Healthcare Materials. 
 
They both share insider tips on navigating the peer review process, selecting the best journal for your work, and setting yourself up for publishing success, whether you’re submitting your first paper or your tenth.
 
On This Episode We Discuss:
How to choose the right journal for your research
What editors look for when screening submissions
Red flags that can lead to rejection
Tips for writing effective cover letters and response letters to reviewers
The benefits (and challenges) of open-access publishing
 How AI tools like ChatGPT are already influencing the writing and reviewing process
Current trends in genetics publishing and where the field is headed
 
Resources: 
Wiley Advanced Portfolio 
Wiley’s Journal Finder
Genetics and Genomics: Advanced Science Collection 
Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections
Wiley's AI guidelines for Authors
What Makes a Successful Submission Wiley Blog Post
Eligibility for access to Research4Life 
Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences
Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering
Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 
 
While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”
 
Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 
 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Friday Apr 11, 2025

It’s an in-person episode! On Sarah Lawrence College’s campus, host Kira Dineen interviews former classmate Carli Andrews, MS, CGC. We explore the evolving landscape of continuing education for genetic counselors. 
 
Carli joins us to discuss GC+ Academy, an innovative educational initiative designed to enhance professional skills and provide continuing education units (CEUs) for genetic counselors. She shares insights into the academy’s unique learning model, which integrates real-world applications, case-based learning, and flexible course structures to accommodate busy professionals. We also explore how GC+ Academy is addressing crucial gaps in genomic education by offering courses in personalized healthcare, business mindsets, systems theory, and communication strategies.
 
Tune in to gain valuable insights into how genetic counselors can apply systems thinking to healthcare, understand the business side of their profession, and prepare for the future of precision medicine. Carli also highlights the importance of communication training in bridging the gap between genetic counseling and the broader healthcare community. Learn how GC+ Academy is transforming continuing education for genetic counselors and how you can take advantage of this cutting-edge learning platform!
 
The Institute for Genomics Education, Workforce & Leadership has generously provided a discount to all DNA Today listeners! Use our code “DNATODAY” for a 20% discount on all GC+ Academy courses and learning paths. In truly generosity, the code doesn’t expire, because we should always be learning! 
 
Topics Covered in This Episode:
The inspiration behind GC+ Academy and the need it fills in genetic counseling education
How GC+ Academy differs from traditional CEU programs
The benefits of flexible, self-paced learning paths
Why understanding healthcare systems is crucial for genetic counselors
The growing importance of business and financial knowledge in genetic counseling
The role of communication training in genomic medicine
The future of continuing education in genetic counseling
 
The Guest 
Carli Andrews, MS, CGC. is a board-certified genetic counselor and an alumna of Sarah Lawrence College (MS ‘19). She has a rich background in both clinical and industry settings. Andrews is dedicated to making genomic information accessible and impactful for diverse populations in her role as Head of Program Development for the Institute for Genomics Education, Workforce & Leadership. Carli's most recent role prior to joining the Institute was as a medical science liaison where she excelled in providing scientific and clinical expertise, supporting multiple teams including commercial operations and medical affairs, and engaging with the genetics community at national conferences.
Carli views her role at the Institute as a pivotal opportunity to drive forward the mission of advancing precision medicine through genomics education and workforce development. Coming into this role at a crucial time, she is actively involved in creating innovative educational programs designed to equip the current and next generation of genomic professionals with the skills and knowledge needed to excel in the evolving landscape of healthcare. Carli earned her MS in Human Genetics from the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College and her BS in Molecular Biology, Biochemistry, and Bioinformatics from Towson University.
 
Resources 
20% discount on all GC+ Academy courses and learning paths by using code “DNATODAY” 
Institute for Genomics Education, Workforce & Leadership  
GC+ Academy 
Personalized Healthcare Learning Path
JOGC Article: Authentic professional learning between genetic counselor educators
Contact: GenomicsInstitute@sarahlawrence.edu 
Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 
While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”
Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Friday Apr 04, 2025

This conversation is a follow-up to Episode #326: How DNA Solves Crimes – The Forensic Science Behind True Crime, where we explored the role of DNA in forensic investigations including the infamous O.J. Simpson case. Dr. Henry Erlich returns to the show to talk about human ancestry and evolution. 
Dr. Henry Erlich has authored over 450 publications and spent decades applying DNA analysis to criminal investigations, missing persons cases, and ancestry research. His work has helped us trace human origins, understand genetic diversity, and uncover how DNA links us to Neanderthals and Denisovans. His lab performed the first DNA case in the US and, in 1988, the first DNA exoneration. Erlich was the Director of the Department of Human Genetics and Vice-President of Discovery Research for Roche Molecular Systems, Inc until 2013. He is currently a Senior Scientist at Benioff Children’s Hospital Oakland Research Institute. 
Topics Covered in This Episode:
How PCR revolutionized genetic research and our understanding of evolution
What genetic diversity within African populations tells us about human origins
Debunking myths about Mitochondrial Eve and human ancestry
The genetic connections between humans, Neanderthals, and Denisovans
How ancient DNA from medieval bones reshapes what we know about genetic bottlenecks
Insights from the Pangenome Project and its potential to improve our understanding of genetic variation
Relevant Episodes: 
#326: How DNA Solves Crimes – The Forensic Science Behind True Crime (First Episode with Dr. Henry Erlich)
#216 African American Ancestry with Nicka Smith
#117 Dr. Janina Jeff on African Genomes
#251 Diversifying Genetic Research with 23andMe (Explores African American Sequencing Project)
#182 Dr. Eric Green on the Complete Human Genome Project and Pan Genome Project
Resources and Links:
Read Genetic Reconstruction of the Past by Dr. Henry Erlich
Explore the National DNA Index System (NDIS) and CODIS
The Innocence Project: Fighting wrongful convictions with DNA evidence
GEDmatch and its role in forensic investigations
Get ready, genetic nerds—another brand-new episode of DNA Today drops next Friday! You can always count on us to deliver fresh content every Friday. 
While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”
Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

#334 ACMG 2025 Recap

Monday Mar 24, 2025

Monday Mar 24, 2025

To recap the American College of Medical Genetics (ACMG) held in Los Angeles, host Kira Dineen is joined by Karl Krahn. The conference ended Saturday so instead of waiting until Friday to share this episode we released it early. 
 
Through this conversation, Kira and Karl reflect on their first attendance at the ACMG conference. They share insights on the sessions and events they attended, highlighting the engaging discussions and expert panels that made the conference memorable. Kira gives shout outs to a bunch of listeners she met during the conference, so tune in to see if she mentioned your name! 
 
Karl Krahn is a genetic counselor who serves as a Clinical Analyst doing variant curations for exams and genomes at a genetic testing lab. Karl and Kira met as classmates at Sarah Lawrence College and graduated together in 2020. This is Karl Krahn’s return appearance on DNA Today, his first episode was six years ago on Episode #101 where we celebrated Match Day by providing advice on starting genetic counseling grad school. 
Sessions Highlighted:
2025 ACMG Foundation Awards and Presidential Plenary Session - Genetics in the Media - Entertainment, Public Entertainment, Public Education, Controversies and Ethical Dilemmas
Challenge The Experts - Pediatric and Prenatal Diagnostic Dilemmas (Rare Knowns and Unknowns)
Diagnostic Dilemmas from the Undiagnosed Diseases Network 
Genetic Counseling Forum: Sexual and Reproductive Health Counseling for Individuals with Intellectual Disability 
The ACMG/AMP/CAP/ClinGen Standards for Sequence Variant Classification 
Navigating the Current Landscape in Prenatal Genetics - Coverage, Politics and Laboratory Practice 
Latest Updates in Infertility Care IVF, PGT, and Alabama Advocacy
 
Takeaways
The ACMG conference provided valuable insights for various genetic professionals including genetic counselors 
The opening session set a positive tone for the conference
Networking with peers and listeners was a rewarding experience
Healthy snacks and beverages contributed to a welcoming atmosphere.
The 'Challenge the Experts' session was particularly engaging and humorous where geneticists showcased the thought processes of leading professionals in genetics.
The importance of addressing current political issues in genetics 
Sexual health education is essential for individuals with intellectual disabilities and genetic counselors are well positioned to introduce these topics and resources. 
Updates to ACMG criteria aim to clarify variant classifications
Legislation can significantly impact infertility care and patient access
Stigma surrounding infertility remains a challenge in healthcare
 
Resources Mentioned
Laura Hercher’s DNA Today episodes #284 IVF in Alabama #191 Overturn of Roe #157 Texas’ SB8
Recent national genetic conference recaps: NSGC 2024 and ASHG 2024 
Sexual and reproductive health resources for people with intellectual disabilities 
 
We are already looking forward to ACMG 2026 in Baltimore, and coincidentally the 2026 National Society of Genetic Counselors (NSGC) annual conference will also take place in Baltimore. It’s worth pointing out that the next NSGC conference is November 2025 in Seattle. And Kira misspoke, the next national genetics conference she will attend will be the American Society of Human Genetics (ASHG) which will be in Boston this Fall. See you all there! 
 
Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 
While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”
Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

Friday Mar 21, 2025

To celebrate World Down Syndrome Day (which is today March 21st, 2025) our host Kira Dineen sits down with Carissa Carroll, the founder of Jack’s Basket, a nonprofit dedicated to celebrating babies with Down syndrome and supporting their families. Inspired by her son Jack, Carissa launched Jack’s Basket to provide new parents with resources, encouragement, and community connections.
In this heartfelt conversation, we explore:
The power of celebrating every baby with Down syndrome
How healthcare providers can deliver a diagnosis with compassion
The essential resources and support networks available for families
The profound impact of Jack’s Basket worldwide
The role of education and awareness in fostering inclusion
Whether you’re a healthcare professional, a parent, or an advocate, this episode sheds light on the importance of positive, informed communication and the life-changing support of community organizations like Jack’s Basket.
About Our Guest:
Carissa Carroll is an alumna of Bethel University and the University of Minnesota. She taught at elementary and collegiate levels before a sweet baby boy named Jack changed her heart and passion. After an abrupt and assumptive diagnosis experience, Carissa felt led to start Jack’s Basket. She wanted to make a change for future parents, ensuring that they felt their child was a reason to celebrate and have opportunities to connect within the community. Carissa presents to medical professionals about how to deliver the diagnosis without bias, works with the Jack’s Basket board to further the mission, and connects with volunteers who deliver baskets.
 
Jack’s Basket Resources:
Request a Basket
Genetic Counseling Webinar: "Communicating Unexpected News"
 
Other DNA Today Episodes About Down Syndrome: 
#176 Glee's Lauren Potter on Down Syndrome Awareness
#280 Celebrating Down Syndrome with Parent & Nurse Jenness Stock
Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 
While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”
Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

Friday Mar 14, 2025

This week we attended the 2025 Connecticut Rare Disease Forum organized by BioCT and held at the beautiful Jackson Laboratory. This afternoon was filled with industry-led discussions on innovation in rare disease diagnostics and treatments, along with the promising impact of these advancements on patient outcomes.
 
After the events wrapped, I caught up with Pamela Gavin, who serves as the President and CEO of the National Organization for Rare Disorders (NORD). She was on the panel, “Bringing Science to the Patient: Moving Upstream Toward Durable Response and Cures.”
 
This in-person conversation explores the vital role of patient advocacy organizations, particularly NORD, in supporting individuals with rare diseases. It discusses the evolution of patient advocacy, the importance of genetic testing, and the need for a robust workforce in genetic counseling. We emphasize the significance of building effective organizations and learning from successful models to enhance the impact on rare disease communities.
 
Takeaways
NORD serves as a safe, trusted place for people to connect regarding rare diseases.
Patient advocacy organizations play a crucial role in drug development and research.
The landscape of patient advocacy has evolved significantly in recent years.
Building effective rare disease organizations requires understanding best practices and community needs.
Learning from successful organizations can help new groups avoid common pitfalls.
Genetic testing is becoming increasingly important in diagnosing rare diseases.
The future of genetic counseling faces challenges due to increasing diagnoses and limited workforce.
Engaging the next generation in genetics is essential for the future of healthcare.
Collaboration and communication within the rare disease community can lead to better outcomes.
Advocacy organizations must adapt to the rapid advancements in genetic technology and testing.
 
Our Guest
 
Pamela Gavin was appointed chief executive officer of the National Organization for Rare Disorders (NORD®) in May 2024, becoming the third CEO in the organization’s 42-year history. Gavin’s deep connection to the rare disease community and extensive professional experience make her uniquely suited to lead NORD into its next chapter of innovation, advocacy and impact. Before joining NORD, she held several influential roles in healthcare innovation and safety, including as senior director, Strategic Business Initiatives at the University of Pittsburgh Medical Center, where she launched emerging technologies to improve healthcare delivery; government consultant responsible for developing the Federal Safety Reporting Portal for the NIH, FDA and other organizations; founder and executive of SafeCare Systems, a pioneer in safety management information systems; and division director at the Harvard Risk Management Foundation. Gavin holds a Master of Business Administration in Healthcare Management from Northeastern University and a bachelor’s degree from Smith College. 
 
DNA Today Episodes Referenced
#147 CF Series: Bijal Trivedi on "Breath From Salt"
#149 CF Series: Gunnar Esiason on Patient Advocacy 
#293 Smith-Magenis Syndrome with Parent Scotti Taylor
 
There are countless episodes about rare diseases, many of which are captured in this YouTube playlist. 
 
Get involved with a rare disease organization here on NORD’s website. 
We’re honored to share that "DNA Today" has once again been recognized by Feedspot as one of the Top 10 DNA Podcasts, Top 25 Genetics Podcasts, and Top 70 Award-Winning Podcasts! Even more exciting? We continue to hold the Number 1 spot as the leading podcast about DNA! This achievement is thanks to our incredible guests, engaged listeners, and amazing supporters. Your enthusiasm for genetics and genomics keeps us inspired to bring you the latest discoveries, expert interviews, and meaningful stories. Thanks to Anuj Agarwal for continuing to recognize our podcast every year!
Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 
While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”
Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Friday Mar 07, 2025

This is our third installment in our new Mock Genetic Counseling Session Series! In this episode, pediatric genetic counselor Miranda Di Biase and students Claire Zimlinghaus and Joy Lin perform a mock pediatric genetic counseling session. This session’s indication is one of the most common in pediatric genetics: autism. 
 
This session was recorded in person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. 
 
We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.
 
The Actors:
 
Miranda Di Biase, MS, CGC, is a Pediatric Genetic Counselor at the Children's Hospital at Montefiore Einstein. Her clinical focus centers on counseling families on genetic testing options to find a potential genetic etiology for their child's medical concerns. Di Biase also specializes in pediatric cancer predisposition syndromes and Williams syndrome. Di Biase's research focuses on genome sequencing. She participated in the NYCKidSeq research study, which performed whole genome sequencing for patients with neurological, immune and/or cardiac health problems. Her work has been shared through numerous scientific publications and abstracts.
 
After obtaining her Bachelor of Science from York University in Toronto, Canada, Di Biase moved to New York to earn her Master of Human Genetics at Sarah Lawrence College. Di Biase is certified by the American Board of Genetic Counseling and was nominated for the prestigious Heart of Genetic Counseling award in 2021 presented by the National Society of Genetic Counselors and Invitae. This award honors genetic counselors who have made a difference in the lives of their patients by using the combination of human excellence and human compassion that defines the profession. 
 
Claire Zimlinghaus is a second year graduate student at the Sarah Lawrence College Joan H. Marks Human Genetics program. She received a Bachelor's degree in Biological Sciences from the University of Pittsburgh in 2023. Claire has had a passion for the science of genetics since her youth, and hopes to be a source of information and empathy for her patients as a genetic counselor.
 
Joy Lin is currently a second year genetic counseling student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. She received her Bachelor of Science in Biochemistry and Psychology from Stony Brook University. She is passionate about genetics and hopes to provide meaningful care to individuals and families as a genetic counselor.
Pediatric Mock Session Case Information 
 
Case Details: The patient is a 4 year old male with autism and global developmental delay who presented to genetics with his mother and sister-in-law.
 
Patient Name: John
 
Parent Name: Claire
 
Sister-in-law Name: Joy
 
Medical History:
Pregnancy:
Uncomplicated 
Non-invasive prenatal screening: low risk for trisomies
Ultrasounds were normal
Full term via NSVD
Exposures: none
Developmental milestones: delayed
Sitting: 10 months
Walking: 2 years
Talking: 3 years
Can speak in 2-3 word sentences
Education
Preschool 
Therapies
OT (2x weekly, 30 min)
ST (2x weekly, 30 min)
PT (2x weekly, 30 min)
Review of Systems
ENT - ear infections (3x)
Normal physical exam
Specialists seen:
Neurologist, Audiologist, Developmental Pediatrician 
 
Family History:
Ancestry: Irish and German
No consanguinity, birth defects, genetic conditions, multiple miscarriages or infant deaths
Cousin with autism
Pediatric Mock Session Outline
 
Contracting:
Greetings and introductions
Reason for referral to genetic counseling
Overview of session
Address patient questions or concerns
 
Medical Intake:
Pregnancy history, developmental milestones, review of systems, and other relevant medical history
 
Family History:
Construct a pedigree
Consanguinity, ID/DD/autism, birth defects, genetic conditions, multiple miscarriages, infant deaths, etc.
 
Physical Examination
Done by the geneticist
 
Patient Education
Overview of genetics
Causes of autism spectrum disorder
Discussion of multifactorial causes, chromosomal abnormalities, single-gene disorders
Discuss appropriate testing options:
Chromosomal microarray + Fragile X syndrome testing
Whole exome sequencing (WES)
Whole genome sequencing if indicated
Sample collections blood versus saliva 
Possible results
Negative, Positive, Variant of Uncertain Significance
Incidental findings
Secondary findings can be reported for ES and GS 
Turnaround time
Cost and insurance coverage
Shared decision-making
Informed consent
 
Recommendations and next steps
Summary of the session
Follow up with genetic counseling to discuss test results
 
Final questions and conclusion of session
 
Stay tuned for the continuation of our mock genetic counseling session series inspired by a cumulation of cases. 
 
Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. 
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