DNA Today: A Genetics Podcast

#320 Genetics in Neuromuscular Disorders: Diagnosis and Treatment with Dr. Robert Bucelli

“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:
What neuromuscular neurology entails and who is affected.
The role of genetics in diagnosing and treating neuromuscular disorders.
Common symptoms, risk factors, and diagnostic approaches.
How therapies like physical and occupational therapy play a role in management.
Lifestyle modifications, including diet and exercise, to minimize risk.
The latest advancements in research and treatment, including ASO therapy.
Strategies for coping with the challenges of living with neuromuscular conditions.
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 ItHappenedToMePod@gmail.com. 
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 info@DNAtoday.com. 

#319 New CPT Code 96041 Explained: 2025 Billing for Genetic Counselors

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!
On This Episode We Discuss:
Key Differences: Explained the shift from "face-to-face" to "total time" billing between codes.
Why the Change? Discussed the reasons behind the update and its necessity for the field.
Total Time Billing: Detailed how this impacts documentation and billing.
Billable Activities: Highlighted activities now eligible for billing under 96041.
Expanded Access: Explored how telehealth eligibility broadens access to genetic counseling.
Best Practices: Provided tips for accurate time documentation.
The 50% Rule: Explained the significance and implications.
Payer Reimbursement: Discussed potential hurdles and advocacy strategies.
Medicare and Medicaid: Analyzed coverage limitations and the path to Medicare recognition.
State-Specific Medicaid Policies: Emphasized the importance of understanding local regulations.
Multiple Provider Encounters: Explained how the new code applies in complex scenarios.
Student Involvement: Discussed billing practices during supervised encounters.
Institutional Adoption: Provided guidance for clinics and institutions.
Collaboration: Highlighted the importance of working with billing and compliance departments.
NSGC's Role: Discussed the organization's efforts to educate stakeholders.
Individual Advocacy: Encouraged listeners to actively advocate for the new code.
Real-World Application: Walked through a hypothetical patient interaction to illustrate time documentation and billing.
GCA Value: Discussed the potential impact of 96041 on GCA roles.
Independent Provider Status: Explored the potential implications for genetic counselors' recognition.
Integration into Healthcare: Discussed the role of 96041 in mainstream healthcare.
Final Advice: Offered concluding advice for genetic counselors and billing departments.
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 nsgc@nsgc.org 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 info@DNAtoday.com. 

#318 Genetics Wrapped 2024: Top Advances in Genomic Medicine

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. 
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 info@DNAtoday.com.

#317 Prenatal Mock Genetic Counseling Session

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. 
 
Mock Prenatal Genetic Counseling Session Outline
Contracting 
Greetings and introductions. 
Overview of the session: pregnancy history, symptoms, family history, genetic screening options, ultrasound preview, and addressing questions.
Burning Questions
Concerns about age-related risks for chromosomal conditions.
Explanation of egg retrieval age vs. delivery age for risk assessment.
Pregnancy Information
Confirm due date, conception method, LMP and/or transfer date, etc.
Pregnancy symptoms, exposures, and medical history review.
Family History
Maternal/paternal conditions and relatives' health details.
Screening Options
NIPS: Non-invasive blood screening to detect chromosomal conditions.
CVS/Amnio: Diagnostic procedures, risks, timing, and testing options. 
NT Ultrasound
Schedule around 13 weeks to measure the nuchal translucency (NT) and presence or absence of the nasal bone for indicators of chromosomal conditions.
Session Wrap-Up
Review next steps: NIPS consent, blood draw, and future appointments.
Results will be provided in person at the next ultrasound.
Invitation for partner involvement if desired.
 
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 info@DNAtoday.com. 

#316 Cascade Genetic Testing: How “Connect My Variant” Empowers Families

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 info@DNAtoday.com. 

#315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally

We explore a remarkable story of genetics, family history, and groundbreaking research with Dr. Susan Liebman and Dr. Elizabeth McNally. Together, they’ve identified a genetic mutation with life-saving implications for families affected by inherited heart conditions, like Dr. Liebman’s own.
 
Meet Our Guests:
Dr. Susan Liebman is a trailblazing molecular geneticist who uses yeast as a model organism to study prions and human protein misfolding diseases such as ALS and Alzheimer’s. Her research also extends to the prion form of the cancer gene p53. With over 100 publications in leading journals, including Nature, Science, and Cell, and more than $13 million in research funding, her contributions to the field are substantial. Susan began her scientific journey as one of MIT’s early female undergraduates (B.S. 1968) and went on to earn advanced degrees from Harvard (M.S. 1969) and the University of Rochester (Ph.D. 1974) medical schools. In addition to her research, she taught genetics to undergraduate and graduate students for more than 35 years.
 
Dr. Elizabeth McNally directs the Center for Genetic Medicine at Northwestern University’s Feinberg School of Medicine in Chicago and is the Elizabeth J. Ward Professor of Genetic Medicine. She is a practicing cardiologist with expertise in cardiovascular genetics. As a clinician, she developed practices for integrating genetic information into cardiovascular care. She has a special interest in neuromuscular diseases like muscular dystrophy and their accompanying cardiovascular complications.
 
Episode Highlights:
- Family Medical History: Dr. Liebman shares the powerful backstory behind “The Dressmaker’s Mirror” and how a century-old family secret shaped her journey in genetic research and advocacy.
- Discovering the FLNC Mutation: Dr. McNally discusses the process of uncovering this mutation in Dr. Liebman’s family, highlighting the challenges and breakthroughs in genetic testing and the importance of tracking family medical history.
- Genetic Screening and Personalized Medicine: The guests examine the future of genetic testing, including the ethical complexities and benefits of population screening for high-risk groups, like Ashkenazi Jews, who have a higher frequency of the FLNC mutation.
- Preventive Care in Cardiology: Dr. McNally shares insights on integrating genetic data into cardiology, from identifying cardiomyopathy risks to offering personalized care for patients.
- Barriers to Genetic Testing: They address why only a small percentage of cardiomyopathy cases are referred for genetic testing and discuss ways to increase access and education around genetic testing’s role in heart health.
- The Future of Gene Therapy: Hear Dr. McNally’s outlook on gene therapy advancements for actionable genes, including the latest on FLNC’s addition to the ACMG list of actionable genes.
 
Enter Book Giveaway!
You can win a free copy of “The Dressmaker’s Mirror”! Head over to DNA Today’s social media to enter the giveaway. You can also enter the Goodreads giveaway for additional opportunities. Can’t wait to see if you won? Buy a copy of the book through the publisher (with code RLFANDF30) or on Amazon. 
 
More Info
You can learn more about the author Dr. Susan Liebman, on her website here. If you are interested in booking her as a speaker check out her Media Kit here, you can reach out to our host Kira Dineen (info@DNAtoday.com) as she is also her Book Launch Agent! 
 
Keep up with Dr. Elizabeth McNally on X @EMMcNally. 
References
Golbus JR, Puckelwartz MJ, Dellefave-Castillo L, Fahrenbach JP, Nelakuditi V, Pesce LL, Pytel P, McNally EM. Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. Circ Cardiovasc Genet. 2014 Dec;7(6):751-759. doi: 10.1161/CIRCGENETICS.113.000578. Epub 2014 Sep 1. PMID: 25179549; PMCID: PMC4270910. 
 
Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM. Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing. JAMA Cardiol. 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. PMID: 35947370; PMCID: PMC9366660.
 
DNA Today Episode #175 Hereditary Cancer Variant Network with Brian Shirts. And our next episode will be featuring Connect My Variant’s founder Dr. Brian Shirts again! 
 
DNA Today Episode #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1
 
DNA Today Episode #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
 
SecuriGene - a company that will bank your DNA. 
 
Jackson Laboratories and Northwestern Medicine’s Course “Implementing Cardiogenomics in Clinical Practice” 
 
American Heart Association 
 
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 info@DNAtoday.com.

#314 ASHG 2024 Recap

We’re back from the American Society of Human Genetics (ASHG) 2024 Annual Meeting in beautiful Denver, Colorado! This episode recaps the highlights, discussions, and discoveries from five packed days of cutting-edge genetics and genomics science. Every year, ASHG brings together researchers, clinicians, students, and industry leaders to share advancements, and this year was no exception.
 
In this recap, our Kira Dineen reflects on the vibrant atmosphere at ASHG and shares conversations with conference attendees, each offering unique perspectives on the sessions and workshops they found most impactful. We had the chance to connect with some familiar faces, including previous podcast guests and sponsors, as well as meet new colleagues who shared inspiring insights into the future of genetics.
 
You might notice some background chatter—it captures the energy and dynamism of ASHG’s bustling exhibit hall and session rooms!
Presentations Recapped
“Mendel’s Peas as Exemplar or Exception” by Dr. Gregory Radick 
“Sickle Cell Disease: A Journey Through the Complexitites of Genetics” by Dr. Athena Starland-Davenport 
Resources
Disputed Inheritance: The Battle over Mendel and the Future of Biology By Dr. Gregory Radick
“The Genetics Podcast” By Sano Genetics (Hear Kira’s most recent appearance on Ep 134)
Science Geek Games’ Variation – A DNA Matching Card Game
NIH Small Business Funding/Grants
Episode Referrenced
#157 NSGC 2021 Recap
#191 Overturning Roe v. Wade with Laura Hercher
#284 IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher
#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1
#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
#305 Transformative Therapies for Sickle Cell Disease with “Through The Genes”
#307 NSGC 2024 Recap
Fact Check
Kira estimated that Mendel was studying genetics through peas in the 1800s, and she was right. For eight years, starting in 1857, Medel studied the peas he grew in the garden of his monastery.
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 info@DNAtoday.com. 

#313 Becker Muscular Dystrophy Clinical Trials with Edgewise Therapeutics

Dr. Joanne Donovan, Chief Medical Officer at Edgewise Therapeutics, join the show to discuss Becker Muscular Dystrophy (Becker) and emerging treatments.
 
We dive into Dr. Donovan’s role at Edgewise and the company’s research into treatments for Becker and Duchenne Muscular Dystrophy. At the forefront of this research is sevasemten, an investigational fast myosin inhibitor designed to combat contraction-induced muscle injury, which plays a significant role in muscle deterioration for those living with Becker. 
 
Please note that sevasemten is an investigational agent that is not approved for use by any regulatory authority in any territory. All information shared in this podcast episode is intended for healthcare providers only. This episode is for informational purposes only and should not be considered professional medical advice. Always consult your doctor or qualified medical professional for any questions that you may have regarding a medical condition, procedure, treatment or trial.
 
Joanne M. Donovan, M.D., Ph.D., has served as Chief Medical Officer at Edgewise Therapeutics since 2021. Most recently, Dr. Donovan served as Chief Medical Officer and Senior Vice President, Clinical Development at Catabasis Pharmaceuticals. Since 1989, she has been a staff physician at the VA Boston Healthcare System, where she was formerly Chief of Gastroenterology. Dr. Donovan has held an appointment at Harvard Medical School since 1990, most recently as associate clinical professor of medicine. From 1998 to 2011, Dr. Donovan served in positions of increasing responsibility, ultimately as vice president of clinical development, at Genzyme, a biotechnology company, which she joined through its acquisition of GelTex Pharmaceuticals. Dr. Donovan holds a Ph.D. in medical engineering and medical physics from the Massachusetts Institute of Technology, an M.D. from Harvard Medical School and an S.B. from the Massachusetts Institute of Technology. She completed residency training in internal medicine and a fellowship in gastroenterology at the Brigham and Women's Hospital.'
Key Discussion Points:
 
Becker Muscular Dystrophy Overview: Becker is a genetic, progressive disease that leads to muscle degeneration and weakness. Symptom onset varies and can be debilitating, with patients losing muscle function over time.
The Science Behind Becker: Muscle breakdown in Becker is driven by dysfunctional dystrophin, a protein that supports muscle fibers during contraction. Without proper dystrophin function, repeated contraction-induced injury leads to muscle fiber loss and replacement by fibrosis and fat.
Edgewise Therapeutics’ Research: The investigational therapy sevasemten has shown promising results in recent trials, including stabilization of functional assessments and reductions in muscle damage biomarkers. Dr. Donovan shares how Edgewise is progressing to the pivotal Phase 2 GRAND CANYON study, which is now enrolling ambulatory adults with Becker.
 
If you are a healthcare provider with patients who may benefit from this research, you can refer them to the study through the information below. 
 
1) Contact our Edgewise team by email at studies@edgewisetx.com.
2) Have your patient go to beckergcstudy.com, where they can contact someone from patient support.
3) Or submit your contact information via beckergcstudy.com/hcp and someone will reach out to you.
 
More DNA Today Episodes on Muscular Dystrophies:
#156 Rich Horgan on Duchenne Muscular Dystrophy (DMD)
#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde
  
Stay tuned for the next new episode of DNA Today on 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 info@DNAtoday.com. 

#312 What is a Genome Health Analyst? Exploring NYU and Sarah Lawrence's New Master’s Program

We are learning about an exciting, newer career in the genomics field: genome health analyst. This role is rapidly gaining importance as the demand for interpreting personal genomic data continues to grow, and healthcare systems need more professionals trained to make this data clinically actionable. 
 
Joining us are Dr. Claire Davis and Anna Cantor, Co-Directors of the new Master's of Science in Genome Health Analysis program, which is a collaboration between NYU Grossman School of Medicine and Sarah Lawrence College. 
 
Claire Davis has worked with the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College for nine years in various capacities. She is now Director of Curriculum for the genetic counseling program and the Institute for Genomics, as well as co-director of the Genome Health Analysis master's program created in collaboration with NYU Langone's School of Medicine. Claire previously worked as a cancer counselor and assistant director of the genetic counseling training program at Mount Sinai. She earned her doctorate in adult education and leadership from Teachers College, Columbia University, completing a dissertation on the professional learning of genetic counselors. She continues to volunteer for initiatives related to genetic counselors' learning and development.
 
Anna Cantor is the Program Director of Genetics Education at the Center for Human Genetics and Genomics at NYU Grossman School of Medicine and co-director of the Genome Health Analysis Master’s program.. She is a board-certified genetic counselor with clinical experience in cancer and autoinflammatory genetics. . Throughout her career, Anna has trained genetic counseling students and  is now creating  education initiatives for graduate and medical students, as well as  healthcare professionals that aim to increase access to accurate genetics information throughout NYU Langone Health. Anna received her MS in Human Genetics from Sarah Lawrence College and her MA in Behavioral Neuroscience from the University of British Columbia in Vancouver, Canada. She completed her BA Hons in Psychology from Concordia University in Montreal, Canada.
 
In This Episode, We Discuss:
What motivated the creation of the MS in Genome Health Analysis program
Career opportunities for graduates in healthcare and genomics
The integration of bioinformatics, data science, and patient care in the role of a genome health analyst
How the collaboration between NYU and Sarah Lawrence College shapes the curriculum
Key courses that prepare students for real-world applications
Handling and interpreting vast amounts of genomic data
The significance of emerging ‘omics technologies and genome variant interpretation
Application tips for prospective students, including types of experiences to prepare them
Going to be at ASHG 2024? Come find Anna Cantor on November 7th with her poster from 2:30-4:30pmMT! Our host Kira Dineen will also be at the conference. So be sure to say hi if you see her. And she is recording sound bites on what you learned at the conference.
 
You can learn more about the Master's of Science in Genome Health Analysis program here. You can contact Anna Cantor directly at Anna.Cantor@NYULangone.org and Dr. Claire Davis at CDavis@SarahLawrence.edu. 
 
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 info@DNAtoday.com. 

#311 Cancer Mock Genetic Counseling Session

We're excited to announce the launch of our new Mock Genetic Counseling Session series! In our first installment, genetic counselor Catherine Mayo and student Ariel Modeste perform a mock cancer genetic counseling session, offering insight into how genetic testing for cancer risks is discussed with patients. 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.
 
Catherine Mayo (she/her), is a Genomic Science Liaison at a genetic testing company. She is a board-certified genetic counselor interested in rare diseases, increased access to genetics services, and social justice in healthcare. She has previous experience in biotechnology and drug development in the Bay Area. 
 
Check out Catherine’s two other appearances on DNA Today. In Episode #110 we chatted about the film Gattaca, mostly how much technology in the film is no longer fiction. We recorded this when we were roommates in grad school together and are members of Sarah Lawrence’s Class of 2020. Catherine more recently shared insight in Episode #259, which was a recap and reflection on the 2023 National Society of Genetic Counselors’ (NSGC) Annual Conference. 
 
Ariel Modeste (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ariel is a graduate of LaGrange College with a B.S. in Biology and a double minor in psychological science and chemistry. The premise of this mock case was Ariel’s work as part of her internship with DNA Today. 
 
Specialty: Cancer
 
Indication: A 26-year-old unaffected female is seen due to a family history of cancer.
 
Patient Name: Estelle Woods
 
Outline:
Contracting 
Introduction to each other
Why were they referred to genetic counseling?
Explain what the session will entail
Ask if patient has any questions
Medical Intake
Family History 
Take a pedigree
Patient Education
The purpose of all the questions that were asked
Genetics overview
Hereditary cancer risk factors and signs
Risk Assessment 
Review the patient’s pedigree and explain what is suspicious and what isn’t and why. 
What you would test for in the patient
Who the best person in the family is to be tested 
Decision Making
Explain genetic testing
Explain the 3 possible results
Explain what each result would mean for the individual and their family members
Ask patient if they would like to pursue the genetic testing
Insurance and cost 
NCCN criteria
Potential insurance coverage
Cash option without insurance
GINA
Consenting
Signing consent forms
Results
Turn around time
How results are provided
Recap information and final questions
 
Stay tuned for the continuation of our mock genetic counseling session series! Over the next year we will be bringing 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.
The next new episode of DNA Today will drop on 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 info@DNAtoday.com.