We explore cutting-edge technologies transforming genetic variant curation: multiplexed assays of variant effect (MAVEs). 

Joining us are two leading experts in the field:

Together, they break down how these groundbreaking methods work, their advantages over traditional approaches, and their potential to advance precision medicine. From the challenges of interpreting MAVEs data to their role in reducing health disparities and resolving variants of uncertain significance (VUS), this episode offers a comprehensive look at the future of genomics.

Dr. Lea Starita is an Associate Professor in the Department of Genome Sciences at the University of Washington and the Co-director of Brotman Baty Advanced Technology Lab. She earned her Ph.D. from Harvard Medical School before coming to the University of Washington to train in functional genomics with Stan Fields and Jay Shendure.

Dr. Douglas Fowler is a Professor of Genome Sciences and an Adjunct Professor of Bioengineering at the University of Washington. Dr. Fowler is co-Director of the Center for the Multiplexed Assessment of Phenotype, an NHGRI Center of Excellence in Genome Sciences. He is also a founder and current co-chair of the Atlas of Variant Effect Alliance executive committee.

Key Topics Covered:

Resources:

Variants and Us (VUS) Podcast 

Introduction to Deep Mutational Scanning (Animation)

An Atlas of Variant Effects to understand the genome at nucleotide resolution

Understanding haemophilia, one amino acid at a time

Mutational Scanning Symposium 2025 in Barcelona in May 2025

Impact of Genomic Variation on Function (IGVF) Consortium

N-Lorem developing ASOs for nano-rare diseases

NIH’s ClinVar Database 

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 [email protected].

With millions of people now taking GLP-1 agonists like Ozempic and Wegovy, I was curious to learn if there are known genetic mutations that predispose people to have serious side effects from these medications. So exploring the pharmacogenomic aspects of Ozempic and Wegovy. 

To answer these questions Dr. Josiah Allen is joining the show. Josiah Allen, PharmD, has spent over 15 years in the field of pharmacogenomics, beginning at the Mayo Clinic where he helped develop the GeneSight test. As a founding employee and the first medical science liaison at Assurex Health, he helped GeneSight become one of the fastest growing molecular diagnostic tests in history.

He later served as director of medical affairs at OneOme and now works at St. Elizabeth Healthcare in Edgewood, KY, as a precision medicine pharmacist and PGY2 Clinical Pharmacogenomics pharmacy residency program director. He earned his bachelor's degree in psychology from Wheaton College and his Doctor of Pharmacy degree from the University of Minnesota.

In the recording, Dr. Allen teases that the Board of Pharmacy Specialties (BPS), the post-licensure certification organization serving the pharmacy profession, will issue a call for petition in pharmacogenomics. The board will be reviewing the petition and evaluating pharmacogenomics as a pharmacy specialty. In the days after we recorded this was released and you can find the full press release here.

Topics Covered:

Key Takeaways:

Resources:

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. 

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 first episode of a series focused on the evolution of UCD management, we discuss the current state and importance of UCD management, and how clinicians can support their patients to sustain their daily UCD care. Joining us for the discussion are two renowned biochemical genetics experts with direct UCD patient care experience.

Holly Bernal, RN, MSN, FNPc is the nurse practitioner with Stanford Biochemical Genetics and has been in that role for the last 8 years. She originally earned her bachelor’s degree at San Francisco State University in 1991 followed by her master’s degree at UCSF in 1999. In 2016 she returned to San Francisco State and earned her FNP certificate and started her role in biochemical genetics. She has a passion for metabolic genetics and also coordinates Stanford’s newborn screening program.

Laurie Bernstein, MS, RD, FADA, FAND is a metabolic dietitian and Professor Emerita of the University of Colorado School of Medicine. Her significant contributions to the field of biochemical genetics include helping to found the professional organization Genetic Metabolic Dietitians International (GMDI) and co-founding Metabolic University, a training forum for new metabolic genetics clinicians. She is a co-editor and author of the textbook, Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, and has also co-authored various other educational modules for families with IEMs.

On This Episode, We Discuss:

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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 is Ashlyn Enokian. This episode is sponsored by AMGEN.

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube, and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Two years of treatment—two years of strength, courage, and blazing a trail for other nano-rare patients! 

In this special episode drop, we’re revisiting the inspiring journey of Susannah, whose story was the first ever shared on the Patient Empowerment Program podcast. Now, two years later, Susannah’s father, Luke Rosen, and her physician, Dr. Jennifer Bain, join us to share her remarkable progress since beginning regular treatments. They highlight incredible improvements in Susannah’s motor skills, cognition, energy, and overall quality of life.

This episode originally aired on the Patient Empowerment Program podcast, where our host, Kira Dineen, serves as a producer. You might even recognize her voice in some of the promos and ads for the show!

For long-time listeners of DNA Today, you might recall that we shared the pilot episode of the Patient Empowerment Program podcast featuring Susannah’s story back in Episode 186. Now, we’re thrilled to bring you this heartwarming update to see how far Susannah has come and to celebrate her incredible resilience.

Be sure to check out more episodes of the Patient Empowerment Program podcast, which focuses on empowering nano-rare patients and their families. Search for the podcast in your favorite podcast app or visit its listing on n-Lorem’s website.

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 [email protected]. 

On Episode 310, we explored the powerful work of Father Founded, an organization dedicated to reuniting Amerasian families separated by war. We shared the heartwarming story of Scott McMullen, a retired firefighter and veteran, who discovered his long-lost daughter through the group's efforts. With how popular this episode was, we wanted to share another story from Father Founded. So we are going to hear from John Haines about his family’s story and volunteer Angela Simmons-Jones’s role. 

John’s journey began in 2012 when he received a life-changing message from a woman claiming to be his daughter, sparking his mission to reconnect families and advocate for Amerasians in the Philippines. Angela, a U.S. Air Force veteran and genealogist, has been volunteering with Father Founded since 2020, using her skills to help families reunite through DNA and genealogy.

Angela Simmons-Jones was born and raised in Illinois and after retiring from the United States Air Force, she settled in Georgia. She works for a public library system and has been volunteering her graphic design, genealogy and organization skills for Father Founded since 2020.  Angela has been working on her own family tree since 2012 and has taken Advanced Genetic Genealogy for Librarians with the American Library Association.  Angela has a Bachelor’s degree in Organizational Management with an emphasis on Logistics from Ashford University.  She is married to another USAF retiree, has a teenage son, too many pets, and raises monarchs. 

Together, they’ll share John’s personal story, the challenges Amerasians face, and how their work is making a difference for families around the world.

You can learn more about Father Founded here including donating to their amazing cause. This is the closed Facebook group that Father Founded uses to connect people. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 320 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 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), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

“DNA Today” isn’t the only podcast that Kira Dineen produces. She also is involved on the production of other genetics shows like the Journal of Genetic Counseling’s new podcast “DNA Dialogues”, n-Lorem’s “Patient Empowerment Program”, Know Rare’s “Rare Insights”, The PhenoTips’ Speaker Series, and relevant to this episode, she is the Executive Producer of “It Happened To Me” explores rare diseases and medical challenges. 

One of the other shows is called “It Happened To Me” which explores rare diseases and medical challenges. This week the show released its 50th episode and wrapped its second year of episodes; to celebrate we are releasing this special interview on DNA Today’s feed! 

This milestone episode of “It Happened To Me” features Dr. Robert Bucelli who explores neuromuscular neurology including the role of genetics in diagnosing and treating neuromuscular disorders. 

Over the last two years and 50 episodes, “It Happened To Me” co-hosts Cathy Gildenhorn and Beth Glassman draw on their own health challenges as they interview patient advocates and experts who share stories and knowledge to help listeners succeed in the face of difficult health obstacles.

In this episode, Dr. Bucelli shares his wealth of knowledge on neuromuscular neurology, exploring topics such as:

Dr. Bucelli has been a practicing neurologist at the ALS Clinic since 2011. He is an Associate Professor of Neurology at the Washington University School of Medicine in St. Louis where he serves as the Site Principal Investigator on several clinical studies relating to ALS.

After graduating summa cum laude from Canisius College in Buffalo, New York with a degree in biology, Dr. Bucelli went on to receive his medical degree and PhD from the State University of New York at Buffalo as part of the Medical Scientist Training Program. He then completed an internship in internal medicine and postgraduate residency in neurology at Barnes-Jewish Hospital and the Washington University School of Medicine, followed by a postgraduate Clinical Fellowship Training Program in the Department of Neurology’s Neuromuscular Section, also at Barnes-Jewish and Washington University. He is also a graduate of the Washington University and Barnes-Jewish Hospital Academic Medical Leadership Program for Physicians and Scientists.

Dr. Bucelli is expert in diagnosing and treating neuromuscular disorders including amyotrophic lateral sclerosis. He also reads and interprets muscle and nerve biopsies to aid in the diagnostic evaluations of patients seen at Washington University and many additional outside institutions. Dr. Bucelli’s clinical expertise guides exemplary multidisciplinary ALS care in the neuromuscular clinic. His skill in delivering drugs to the fluid surrounding the spinal cord has enabled Dr. Bucelli’s and Washington University’s leadership in trials using to turn off the production of harmful genes that cause ALS.

Dr. Bucelli has received numerous awards for excellence in teaching and clinical work at Washington University. He is a five-time recipient of the Eliasson Award for Teaching Excellence and has authored over 40 peer-reviewed manuscripts. He is a frequently invited guest lecturer and presenter at regional and national conferences.

Loved this episode? Make sure you follow this show on Apple Podcasts, Spotify, streaming on their website, or any other podcast player by searching, “It Happened To Me”. The next new episode will drop on January 6th, 2025, but don’t wait, you can listen to 50 other episodes in the meantime. 

“It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer. Questions/inquiries can be sent to [email protected]. 

Stay tuned for the next new episode of DNA Today on December 27th! New episodes are released every Friday. In the meantime, you can binge over 320 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 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), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

With 2025 right around the corner, we are discussing the brand new CPT Code 96041 that will be effective January 1st, 2025. This is a game-changer for the genetic counseling profession, and we have two experts to break it down for us.

Dr. Colleen Campbell is in the last weeks of her NSGC presidency. She also serves as the Director of Genetic Counseling Operations for University of Iowa Health Care. We’re also joined by Brian Reys, a cancer genetic counselor and manager at UT Southwestern’s Cancer Genetics Program. He also serves as a CPT Coding Advisor to NSGC. Colleen and Brian will explain how this new code affects billing and what genetic counselors need to know for 2025!

Colleen A. Campbell, PhD, MS, LGC, serves as the 2024 President of the National Society of Genetic Counselors. She also serves as the Director of Genetic Counseling Operations for University of Iowa Health Care where she oversees the administration, standardization and continuous improvement of genetic counseling operations across the health system. In addition, she is a Clinical Associate Professor in the university’s Department of Internal Medicine. Dr. Campbell is an experienced clinician, researcher and educator in clinical genetics, and a recognized leader in the genetic counseling community for her passionate work growing the genetic counseling workforce in underserved areas and advocacy work. She led the successful Iowa legislative effort to license genetic counselors and is actively involved with H.R. 3876/ S.2323 the Access to Genetic Counselor Services Act, to improve patient access to genetic counseling services. Some highlights of her presidential term include leading the development of the 2025-2027 NSGC Strategic Plan, convening the global genetic counseling community in conversations about the global genetic counselor workforce, and leading the development of a four-prong approach to improve reimbursement for genetic counselor services. As a result of her work, she was awarded the 2018 National Society of Genetic Counselors Strategic Leader Award, 2020 Sarah Lawrence College Joan H. Marks Graduate Program in Human Genetics Distinguished Alumna Award, and 2024 Saint Mary’s College Distinguished Alumnae Award.

Brian Reys, M.S., CGC, joined UT Southwestern Medical Center’s Cancer Genetics Program in 2015. He sees patients at multiple UT Southwestern clinics. He completed his Master of Science degree in medical genetics and genetic counseling at the University of Cincinnati Genetic Counseling Program in 2013.  During his training, he completed a specialized internship in cancer genetics with the Cedars Sinai, GenRISK program in Los Angeles. Prior to moving to Texas, he worked as a genetic counselor in Southern California in the areas of prenatal, pediatric, and cancer genetic counseling. In addition to being a manager with the UT Southwestern Cancer Genetics Program, Reys is a panel member of the National Comprehensive Cancer Network (NCCN) Prostate Cancer Early Detection panel and a CPT Coding Advisor to the National Society of Genetic Counselors (NSGC). He is committed to bridging patient and provider understanding of somatic and germline genetic testing. He has a particular interest in the genetic contribution to prostate, kidney, and bladder cancers. Reys believes that UT Southwestern’s experience in developing leading software in the field of genetic counseling risk assessment is key to increasing the accessibility of genetic counseling and testing for all patients and their families.

The National Society of Genetic Counselors (NSGC) created the 2025 Changes to CPT® Billing Code page as a hub for resources relating to the new 96041 code. This includes the recordings for two presentations: one from the annual conference that took place in New Orleans in September, “Goodbye 96040, Hello 9x100: A Genetic Counseling CPT® Code Update for all Genetic Counselors”. And more recently, “CPT Billing Code Updates Webinar: Preparing for 2025” that was live streamed on November 19th, 2024 that was presented by the NSGC Access and Service Delivery (ASD) Committee. There is also a helpful 9 page PDF that answers frequently asked questions (FAQs). These resources require a NSGC membership login.

Any additional questions can be submitted to [email protected] with the subject line “CPT/PAYER QUESTION.”

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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 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), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics

Bruce D. Gelb, M.D. is the outgoing President of the American Society of Human Genetics (ASHG). He is also the Director and Gogel Family Professor of the Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai. He is Professor of Pediatrics and of Genetics and Genomic Sciences. Dr. Gelb completed a pediatric residency and pediatric cardiology fellowship at Babies Hospital of Columbia-Presbyterian Medical Center and Texas Children’s Hospital at the Baylor College of Medicine, respectively. He joined the faculty at Mount Sinai in 1991 after fellowship and has remained there since. He developed and now oversees an extensive program in genomics/gene discovery for congenital heart disease. Dr. Gelb has received the E. Mead Johnson Award from the Society for Pediatric Research and the Norman J. Siegel New Member Outstanding Science Award from the American Pediatric Society. He was elected to the American Society of Clinical Investigation and the National Academy of Medicine (formerly, the Institute of Medicine). Dr. Gelb is the President for the American Pediatric Society, Immediate Past President for the International Pediatric Research Foundation and Treasurer-Elect for the American Society of Human Genetics. In addition to his research, he co-directs the Cardiovascular Genetics Program at Mount Sinai.

Dr. Eric Green is the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). Throughout his career, he has authored and co-authored over 385 scientific publications. 

Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times! He was featured on Episode #182 when we chatted about the Human Genome Project and the recent completion of the human genome sequence -- from telomere to telomere. Dr. Green was a panelist on the PhenoTips Speaker Series installment that our host Kira Dineen moderated about population genomics in clinical practice, this was also released on the DNA Today podcast feed as Episode #260. He was also on the last couple years for our genetics wrapped 2022 (#214) and 2023 (#263). 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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 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. 

We're excited to release our second installment in our new Mock Genetic Counseling Session series! In this installment, our host Genetic Counselor Kira Dineen and student Annette Grynspan perform a mock prenatal genetic counseling session. This prenatal session’s indication is one of the most common: advanced maternal age (AMA). 

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.

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 10 podcasts most notably DNA Today, Journal of Genetic Counseling's DNA Dialogues, N-Lorem's Patient Empowerment Program, Phenotips Speaker Series: A Genetic Podcast, It Happened To Me: A Rare Disease and Medical Challenges Podcast and others. 

For the past 4.5 years she has also served as the prenatal genetic counselor at a high risk pregnancy private practice in Connecticut for over four years. She was accepted into The Podcast Academy and previously served on the National Society of Genetic Counselor’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.

Dr. Annette Grynspan (she/her) is an international medical graduate from Costa Rica with 14 years of experience in clinical care, research, and healthcare administration. She earned her Bachelor of Science in Neuroscience from the University of Michigan, Ann Arbor, and her Doctor of Medicine from the Universidad Autónoma de Guadalajara. Currently, she is a second-year student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. Fully bilingual in English and Spanish, Dr. Grynspan excels at communicating complex medical concepts and building relationships within diverse communities. 

Passionate about genetics, Dr. Grynspan focuses on personalized medicine and public health initiatives. Her upbringing in Costa Rica has fueled her commitment to health equity and empowering individuals with genetic knowledge for informed decision-making. With strong analytical skills and a detail-oriented approach, she aims to advance patient outcomes and advocate for underserved populations making a meaningful impact in the field of genetic counseling. The premise of this mock case was Dr. Grynspan’s work as part of her internship with DNA Today. 

Stay tuned for the continuation of our mock genetic counseling session series! In 2025 we will bring you more mock sessions 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. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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 Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. 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), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Discover how Connect My Variant, a groundbreaking nonprofit, is revolutionizing the way families share crucial genetic information. Dr. Brian Shirts and Katy Meta reveal how their organization bridges the gap between genetic testing and family communication, potentially saving lives through early detection and prevention.

Brian Shirts, M.D. is ConnectMyVariant’s President, Associate Professor of Laboratory Medicine and Pathology, and Director of the Institute for Public Health Genetics at the University of Washington. His professional goal is to help prevent all hereditary cancer. In his clinical role, he supports a large range of clinical genetic testing from cell-free testing for prenatal screening to exome testing to hereditary cancer testing. Dr. Shirts earned his M.D. and Ph.D. at the University of Pittsburgh. He is board certified in both Clinical Pathology and Molecular Genetic Pathology. His clinical and research interests include improving strategies for detection and classification of rare mutations, clinical classification of rare genetic variants of uncertain significance, particularly variants in familial cancer genes; improving the use of complex and multifactorial clinical information, with special interest in personalized healthcare using genetic information and research on the storage and communication of genetic information in the healthcare setting.

Kathryn (Katy) Meta volunteers as a Family Outreach Navigator at ConnectMyVariant. Katy has volunteered with a long list of organizations including the Cystic Fibrosis Foundation, the National Eating Disorders Association (NEDA), ArtStream, CureMSD and others. She was interviewed on NPR’s Morning Edition about the importance of human connection on the NEDA Helpline, as well as the consequences of their decision to replace Helpline volunteers with an AI chatbot. She is in her Senior year at Dickson College earning her BS in Biology and minor in Psychology with a Health Studies certificate. She is interested in furthering her education with a Master's degree in Genetic Counseling. 

Key Highlights:

- Cascade genetic testing enables families to proactively manage hereditary conditions

- Trained navigators help individuals share sensitive genetic information with relatives

- Connecting people with the same genetic variants creates supportive communities

- Focus on cardiogenetics demonstrates the life-saving potential of early awareness

- Family Outreach Navigators provide crucial follow-up support

We spotlight the emotional and practical benefits of genetic information sharing, from preventing inherited diseases to fostering understanding among family members. Whether you're curious about genetic testing or looking to better understand your family's health history, this conversation offers invaluable insights into the future of personalized medicine.

During the interview the resource FindAGeneticCounselor.com was recommended, and excitingly it is newly available in Spanish. 

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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 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), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].