DNA Today: A Genetics Podcast

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) Care A 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 Deficiency A conversation about ornithine transcarbamylase (OTC) deficiency, the most common UCD, 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! 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. This episode is sponsored 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

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. 

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. 

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. 

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.

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.

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. 

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.  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. 

Happy Rare Disease Day! We are celebrating by shining a light on Wiedemann-Steiner Syndrome (WSS), which is a rare genetic condition that affects development, growth, and overall health. Joining us are Caleb and Abbi Wahl, parents to two daughters, one of whom, Jenni Anne, was diagnosed with WSS after a seven-year diagnostic odyssey.  They share: 🧬 Early signs & the long road to diagnosis 💡 How they processed & adapted to the diagnosis 🤝 Resources & the support that made a difference 📢 Their advocacy work & the power of the WSS community Resources:  Team IMPACT  Uplifting Athletes WSS Foundation  National Organization for Rare Disorders  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.

How can preventive genomic medicine save $200 billion annually in healthcare costs? Dr. Matthew Rabinowitz breaks it down in this episode. Dr. Rabinowitz—a true pioneer in genetics, diagnostics, and AI—who’s been at the forefront of transforming how we approach health and medicine. Dr. Rabinowitz isn’t just a scientist; he’s a visionary who’s helped create groundbreaking technologies, from revolutionizing pregnancy care to tracking cancer through blood tests. In 2024, he was named R&D Leader of the Year by R&D World. Now, he’s tackling preventative genomic medicine, showing us how tools like whole genome sequencing (WGS) and polygenic risk scores (PRS) are turning healthcare from reactive to proactive. Dr. Rabinowitz is the co-founder and Executive Chairman of MyOme and has played a key role in developing cutting-edge genomic technologies. His work has shaped the fields of reproductive genetics, cancer diagnostics, and precision medicine. With over 100 patents and publications, including papers in Science and Nature, his impact on healthcare is undeniable. Topics Covered: How whole genome sequencing (WGS) is reshaping healthcare and risk assessment The power of polygenic risk scores (PRS) in cancer prevention and early detection MyOme’s Breast Cancer Polygenic Risk Score (PRS) and its implications for proactive medicine The economic benefits of genomic medicine in early intervention and disease prevention include potentially saving $200 billion annually in healthcare costs Ethical considerations and the importance of inclusivity in genomic research The future of preventive genomic medicine—will WGS become standard care? Will it start with newborns? Resources and Links: Learn more about MyOme and its work in preventive genomic medicine: myome.com 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.