DNA Today: A Genetics Podcast Kira Dineen

We are delving into the genetic causes of epilepsy in this episode, specifically the role of ATP6V0C in epilepsy. To do so we are joined by Dr. Kari Mattison, Dr. Luis Miguel Oliveira, and Ana Rita. 
 
Kari Mattison, PhD is a research scientist at the University of Minnesota - Twin Cities. She earned her PhD in Genetics and Molecular Biology from Emory University where her dissertation work was on functional evaluation of novel variants identified in early-onset epilepsy. Kari enjoys science communication having earned an ARCS scholar award while in grad school and working as Editor-in-Chief for the Journal of Emerging Investigators, a journal aimed at helping middle and high-school aged students learn the ins and outs of scientific publishing.
 
Luis Miguel Oliveira, PhD, is Founder and Executive Director of the v-ATPase Alliance, a non-profit dedicated to finding a cure for rare disorders caused by v-ATPase genetic mutations. He is also a Senior Associate Director of Research Programs at The Michael J. Fox Foundation, leading several research initiatives in translational research and biomarker development for Parkinson's disease. 
 
Ana Rita faced the challenge of her firstborn being diagnosed with this ultra-rare genetic disease in the ATP6V0c gene, prompting her to utilize her expertise in economics, branding, communication and her entrepreneur spirit to make a difference. Despite being told there was no answer or treatment for her son, she began a mission to bring affected families together, learn from them, also questioning experts, doctors and researchers and surrounding herself with a team eager for change, committed to push boundaries and reshaping the future of all v-ATPase affected children and families. She is now a fierce Rare Disease Advocate utilizing mainly social media @anaritararemom. 
 
Episode Topics:
Overview of Dr. Mattison’s research on ATP6V0C and its connection to epilepsy.
Dr. Mattison’s journey to studying the V-ATPase complex and its role in neurological disorders.
Initial findings linking ATP6V0C to epilepsy.
The impact of ATP6V0C variants on the function of the V-ATPase and genotype-phenotype correlations.
How Dr. Oliveira discovered Dr. Mattison’s paper and their subsequent collaboration.
Daniel’s symptoms and the diagnostic odyssey leading to the identification of the pathogenic variant in ATP6V0C.
The inception of the v-ATPase Alliance, its mission, and goals.
Resources and support offered by the v-ATPase Alliance to patients and their families.
The importance of a patient-centric research agenda in the v-ATPase Alliance.
Contributions of patients and families to research efforts, particularly through the Data Collection Program.
Collaboration between researchers and patient advocacy groups like the v-ATPase Alliance.
Future goals and initiatives planned for the v-ATPase Alliance.
The evolution of the field of genetics, especially concerning neurological disorders.
Advice for new patient advocates in the rare disease community.
 
You can read Dr. Mattison’s paper that we refer to throughout the interview here. Be sure to check out the v-ATPase Alliance including on Facebook, Instagram, LinkedIn, and X. If you are a scientist working on v-ATPases please reach out! 
 
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 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
See what else we are up to o

Did you know genetic counselors can work for medical insurance companies? 
 
Stephanie Gandomi was one of the first! She is a licensed and board-certified genetic counselor with over 20 years of experience in medical genomics including patient care, research, industry, insurance, education, and more. Currently, she serves as the Program Director of the Master of Science in Genetic Counseling at Southern California University of Health Sciences. Her previous roles in insurance include being the first genetic counselor at Blue Shield of California and the Director of Genetics at UnitedHealthcare. In this conversation, we'll explore how genetic counselors can have a huge impact working for medical insurance companies.
 
Also shout out to Rebecca C for recommending this topic as Stephanie the perfect guest! She saw Stephanie present on a GC Prep webinar. GC Prep does fantastic work helping students with the genetic counseling graduate program application process. GC Prep is a past sponsor and you can check out appearances by their team members in Episodes #193, #194 and others. 
 
Stephanie Gandomi is a board certified, licensed genetic counselor. She earned her Master of Science in genetic counseling at Brandeis University in 2006 and her MBA from Boise State University in 2019. She started her clinical career at Lucile Packard Children's Hospital at Stanford, and has been in the molecular genetics space now for over 20 years. In 2016, Stephanie became the first genetic counselor in the Blue Cross Blue Shield System of payers as the Principal Program Manager for precision medicine at Blue Shield of California. In 2016, Stephanie became the Director of Genetics at UnitedHealthcare supporting prior authorization and medical policy creation for genetics, and has served as the Director of Market Access at both Ambry Genetics and GeneDx. She is currently the Program Director for the new Master of Science in Genetic Counseling Program at Southern California University of Health Sciences. Stephanie is an AAPC Certified Professional CPT Coder and an AAPC Certified Professional Compliance Officer. She is currently pursuing her Juris Doctor degree with an emphasis in healthcare law and regulatory compliance.
On This Episode We Discuss:
 
Transition to the Insurance Industry
Motivation behind moving from clinical genetic counseling to the medical insurance sector.
The unique perspective and skills that genetic counselors bring to insurance companies.
 
Role of Genetic Counselors in Insurance
Importance of genetic counselors in developing and implementing medical policies within insurance firms.
Strategies for effectively educating insurance companies about the value and necessity of genetic testing.
 
Achievements and Challenges at Blue Cross
Significant changes and innovations implemented at Blue Cross that led to cost savings and improved patient outcomes.
Major challenges faced when advocating for genome sequencing coverage by insurance companies.
 
Balancing Cost and Access
Strategies for balancing cost containment with ensuring patient access to essential genetic testing and services.
Addressing common misconceptions insurance companies have about genetic testing and how these were tackled.
 
Future of Genetic Counselors in Insurance
The evolving role of genetic counselors in the insurance industry over the next decade.
Key skills and knowledge areas for genetic counselors interested in transitioning to the insurance sector.
 
Building Relationships with Payors
Approaching the building of relationships and trust with major payors during industry tenure.
Advice for genetic counselors on successfully advocating for patients in navigating insurance coverage for genetic tests.
 
Evolution of Counselor-Insurance Relationships
Future relationship dynamics between genetic counselors and insurance companies aimed at better serving patients.
Hopes for the future of genetic counseling and insurance coverage for genetic testing, an

In this episode, we are exploring Ambry Genetics' groundbreaking “Patient for Life” proactive exome reanalysis program. This unique initiative offers lifetime support to patients with rare and undiagnosed conditions, continuously updating their exome testing findings as new scientific discoveries are made.
 
Joining us are two distinguished experts from Ambry Genetics who will shed light on this innovative program and its impact on patient care. Dr. Elizabeth Chao is a board-certified geneticist and the Chief Medical Officer at Ambry Genetics and alongside her is Kelly Hagman, the Vice President of Medical Affairs and a seasoned Genetic Counselor.
 
On This Episode We Discuss:
Ambry Genetics' Patient for Life program offers lifetime support to patients with rare and undiagnosed conditions, continuously updating exome testing findings to improve patient care.
The program addresses disparities in genetic testing by reducing the impact of underrepresentation of non-European ancestries in variant classification and lowering the dependency on provider-initiated requests 
Provider-initiated reanalysis and the potential impact on therapeutics are important considerations in the context of genetic testing and patient care.
 
Resources about Patient for Life:Webpage
White paper
Interview with a GC customer who has had patients impacted by the program (blog)
 
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 295 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

In this special episode, Kristina Inman, a recent graduate of Sarah Lawrence College's genetic counseling program, interviews Dr. John Greally, a leading figure in the field of genetics and pediatrics. Kristina Inman delves into Dr. Greally’s groundbreaking work and personal journey. 
 
Dr. John Greally, is the director of the Center for Epigenomics, Professor of Genetics and Pediatrics, and Chief of Division of Computational Genetics at the Albert Einstein College of Medicine and the Children's Hospital at Montefiore in the Bronx.. He is also co-directing the new NORD Center of Excellence, the NY Center for Rare Diseases, with Dr. Melissa Wasserstein.
Episode Highlights:
Introductions:
Overview of Dr. Greally’s professional background and the new initiatives he's leading, including the NY Center for Rare Diseases.
The connection through guest host Kristina Inman’s graduate thesis work and the relevance of genetic counseling in their lives.
 
Professional Work:
An in-depth look at the NY Center for Rare Diseases and its mission.
Discussing the critical issues of genomic privacy and health equity in genomics.
Exploring Genomic Tech/GenomeDiver and their impact on the field.
 
Personal Journey:
Dr. Greally shares his research background and the inspiration behind his upcoming book on epigenetics.
His thoughts on the portrayal of epigenetics in the media and the focus on functional non-coding variants (fNCVs) in his current research.
Explanation of terms like “regulatory landscape” and “molecular quantitative trait loci (molQTL)” at an accessible level.
Exciting collaboration with Google Research and Deep Mind to develop a machine learning model for identifying fNCVs.
Dr. Greally's personal experience with his diagnosis, the emotions involved, and how it influenced his professional perspective.
 
Patient Care:
The impact of Dr. Greally’s personal experience on his approach to patient care and his connection to families with congenital conditions.
The implications of receiving a variant of uncertain significance (VUS) in genetic testing and its potential impact on patients.
 
Reflection & Advice:
Dr. Greally reflects on his journey, lessons on resilience, the importance of genetic testing, and the potential benefits of universal genetic screening.
Advice for patients dealing with similar conditions and for young professionals entering the field of genetics and genetic counseling.
 
Future Work:
Insights into Dr. Greally’s future plans, upcoming projects, and areas of excitement in his work.
Resources for listeners who want to learn more about Dr. Greally’s research and initiatives.
 
Check out Dr. Greally’s lab and follow Dr. Greally on LinkedIn. You can also check out our guest host Kristina Inman on LinkedIn. 
 
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 290 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

We explore the genetic counseling board exam, its development, delivery, and resources available to test takers by the American Board of Genetic Counseling (ABGC) directly! There is so much to cover so this is a DOUBLE EPISODE of DNA Today. 
 
Joining us in this episode is ABGC’s current President, Angela Trepanier, and the Executive Director, Heather Rich. They provide an insider look at the exam and discuss the process of exam development, addressing issues, and adapting the exam to be more inclusive and equitable. The conversation covers various aspects of the genetic counseling board exam, including the content, passing point determination, exam administration, and recent changes. It also delves into the cost of the exam, financial assistance, and the impact on genetic counselors. The two ABGC speakers provide insights and transparency to ease anxiety for test takers and offer valuable information for program directors and supervisors.
 
Takeaways
Insight into the development and delivery of the genetic counseling board exam.
Understanding the multi-pronged process of exam development and the involvement of diverse experts.
Adaptation of the exam to address biases and promote inclusivity and equity.
The importance of transparency and communication in addressing exam issues and implementing changes. The passing point for the genetic counseling board exam is determined through a rigorous process involving a passing point committee and psychometricians.
The cost of the exam is attributed to various factors, including test vendor collaboration, committee meetings, and innovation costs.
Financial assistance and reduced exam fees aim to increase equity and access for individuals taking the exam, with a focus on supporting those facing financial hardship.
The exam administration process has evolved to provide immediate scoring and diagnostic score reports, enhancing the candidate experience.
Insights from the conversation provide valuable information for test takers, program directors, and supervisors, offering transparency and easing anxiety around the exam process.
 
The National Society of Genetic Counselors' (NSGC) Professional Status Survey (PSS) of 2024 reported that 25% of respondents (full time genetic counselors) had their board exam fees covered by their employer. Nineteen percent had their employer cover their board exam review course. 
 
Most genetic counselors who sat for exams in 2023 did not receive compensation from their
employer upon board certification (83%). Thirteen percent of genetic counselors received a
raise in salary upon board certification in 2023.
 
Want to learn more about boards? We have a couple other episodes to listen to, some of which we mentioned in the interview. 
 
#126 Adam Buchanan on ABGC Boards Exam - Answering listener submitted questions about the board exam is Adam Buchanan, who was the ABGC president at the time. #138 Genetic Counseling Boards Advice - In this episode our host Kira Dineen (who practices in prenatal) is joined by a cancer and a pediatric genetic counselor for insight from the three major specialties to provide insight 
 
#235 Genetic Counseling History: ABGC Formation - Seasoned genetic counselors Ann Walker and Ed Kloza reminisce and share about the formation of the American Board of Genetic Counseling (ABGC). 
 
During the episode we also mentioned some other resources….
 
GC Genius Flashcards - 150 Flashcards: Top 100 Conditions to Know + Expansion Pack (150 conditions)
 
ABGC Official Content Outline 
 
ABGC Frequently Asked Questions (FAQs)
 
ABGC Practice Exam
 
ABGC Certified Genetic Counselor (CGC®) Candidate Guide
 
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 295 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 whi

In this episode we explore the emerging field of newborn screening for cancer predisposition with Dr. Lisa Diller from Dana-Farber/Boston Children’s.
What’s special about this podcast episode? Two Sarah Lawrence Genetic Counseling students took over! Great job to Jessica Fernandes and Yalda Safaei on this interview.
Dr. Lisa Diller is the Vice Chair of the Department of Pediatric Oncology and the Director of the Perini Family Survivors Center and the David B. Perini Jr. Quality of Life Clinic at the Dana-Farber Cancer Institute. Additionally, she is a co-director of the Pediatric Cancer Genetic Risk Program at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. Dr. Diller's research focuses on the late effects of treatment for childhood cancer and genetic cancer predisposition syndromes in childhood.
 
Newborn screening (NBS) is a vital public health service that detects genetic, metabolic, and congenital disorders early, allowing for timely intervention and better health outcomes. While traditional screening focuses on metabolic and genetic disorders, screening for cancer predisposition is still in its early stages, with ongoing research and pilot programs evaluating its feasibility and benefits. NBS is currently done using a biochemical blood test, but Dr. Diller explains the advantages of using a gene-first approach, which has been documented in a study published in the Journal of the American Medical Association which recruited roughly 30,000 Chinese newborns. The study’s findings state that using genetic testing as a first-tier approach improved detection capability as opposed to traditional methods (Chen et al. 2023).
 
Gene-first sequencing, also known as "phenotype-first" or "candidate-gene" sequencing, is an approach in genetic testing where specific genes that are suspected to be associated with a particular phenotype (observable traits or symptoms) are sequenced first. This method contrasts with more comprehensive sequencing techniques such as whole-exome sequencing (WES) or whole-genome sequencing (WGS), where all protein-coding regions or the entire genome, respectively, are sequenced.
 
Nevertheless, implementing widespread newborn screening for cancer predisposition faces several challenges. Technological limitations need addressing to ensure accurate and reliable results, healthcare infrastructure must adapt, and the costs associated with additional genetic tests and follow-up care can be high. Additionally, the psychological impact on families knowing their child has a predisposition to cancer and what it might mean for them must be considered. Ethical considerations are also crucial in this context. Informed consent, privacy, classification of variants, and the potential for discrimination based on genetic information are key concerns. Dr Diller highlights potential stigma that comes with the “label” of being positive and also how many conditions lack complete penetrance; meaning it is difficult to say when or even if these children will develop cancer. 
 
The importance of early detection is underscored by hereditary conditions like retinoblastoma and Li-Fraumeni syndrome (LFS). Retinoblastoma, a rare eye cancer, can be life-threatening if not detected early, but early screening and intervention can significantly improve outcomes. While screening for adult onset cancers like BRCA1/2 in newborns is not recommended, LFS is also associated with various childhood cancers, thus detecting such predispositions early allows for surveillance and preventive measures, potentially saving lives. Following a positive result, parents have the ability to make informed decisions for their children’s health management, whether that requires immediate intervention/therapies, or close monitoring.
 
Dr. Diller emphasizes the importance of the gene-first approach and its role in the trajectory of newborn screening. She highlights the potential of early detection and intervention to signifi