We have wanted to explore the role of RNA analysis in genetic testing for a long time on DNA Today, but waited until we could get THE leader in the space, Ambry Genetics. The Vice President of Research and Development and head of their Translational Genomics lab, Dr. Rachid Karam, was kind enough to come on to have this long awaited conversation.   We'll discuss Ambry Genetics' history of innovation in RNA testing, how it has increased diagnostic yield and reduced Variants of Uncertain Significance in hereditary cancer testing, and its role in closing health disparity gaps. We'll also introduce ExomeReveal, Ambry’s new exome testing product that includes RNA analysis, extending our expertise to rare diseases.   Dr. Rachid Karam obtained his M.D. in 2003 at UFCSPA in Brazil, and his Ph.D. in Oncogenetics in 2008 at the University of Porto, Portugal. During his Ph.D. he studied the role of the tumor suppressor gene CDH1 in cancer predisposition. He did his postdoctoral fellowship at the University of California San Diego (UCSD) from 2009 to 2014 where he studied the role of the NMD mRNA surveillance pathway in cancer. He joined Ambry Genetics in 2014 and is now Ambry’s Vice President of Research & Development. His work focuses on strategies to improve the positive yield of clinical genetic testing, including the clinical implementation of new technologies such as RNA-seq and Long-Read sequencing. He also actively participates in several ClinGen committees dedicated to creating guidelines for the interpretation of genetic testing results, such as the BRCA1 and BRCA2 Variant Curation Expert Panel (VCEP) and is currently the co-chair of the ClinGen CDH1 VCEP.   Discussion Topics: Ambry Genetics' Leadership in RNA Analysis:The journey of Ambry Genetics in becoming a pioneer in RNA testing. Initial challenges and breakthroughs in RNA analysis. Mechanics and Benefits of RNA Testing:How RNA testing works and its role in accurately classifying genetic variants. The impact of RNA testing on increasing diagnostic yield and reducing VUS in hereditary cancer testing. The process of reclassifying variants from VUS to likely pathogenic or benign using RNA analysis. Concurrent DNA/RNA Analysis:The rationale behind Ambry's preference for concurrent DNA/RNA analysis. Potential future shifts in the necessity of concurrent analysis as RNA evidence accumulates. Addressing Health Disparities:Benefits of RNA testing for non-white patients in hereditary cancer testing. Introducing ExomeReveal:Integration of RNA analysis into Ambry's new exome testing product, ExomeReveal. Importance of RNA analysis for splice site variants identified during exome testing. Comparison of ExomeReveal to standard exome tests in terms of diagnostic yield. Case Studies and Future Directions:Example case demonstrating the clarity and diagnosis provided by RNA analysis. Expectations and anticipated outcomes for extending RNA expertise to rare diseases. Implications for Genetic Counseling and Patient Management:Integration of RNA testing into exome and hereditary cancer testing and its impact on genetic counseling. Evolution of patient management as RNA testing integration improves. During the episode we referenced three other episodes of DNA Today… #95 Kieger Family on Familial Adenomatous Polyposis #297 Exome Reanalysis with Ambry Genetics #299 Genetic Causes of Epilepsy with Dr. Mattison, Dr. Oliveira and Ana Rita Thanks again to Dr. Rachid Karam for helping us uncover the transformative potential of RNA analysis in genetic testing and its far-reaching implications for patient care. 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 Intern is Kajal Patel. And our logo Graphic Designer is 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. 

As many of our listeners know, our host Kira Dineen is a member of the LGBQTIA+ community and thought this was an important episode to share with listeners. She is also on the DNA Dialogues team and is always excited to share episodes.    In this episode of DNA Dialogues we delve into the importance of gender-inclusive language in genetic counseling and the specific challenges transgender and gender-diverse (TGD) individuals face in accessing hereditary cancer care. You can find these articles in a special virtual issue of the Journal of Genetic Counseling which is free and open access for the month of June. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.    Segment 1 “Use of gender-inclusive language in genetic counseling to optimize patient care”   Heather Motiff graduated with a B.S. in Psychology from the University of Wisconsin-Whitewater in 2006. She has extensive experience working as a crisis response advocate and co-facilitating support groups for survivors of intimate partner violence. Heather discovered her interest in genetic counseling during her first pregnancy in 2010. She has served as a Community Resource Specialist and contributed significantly to gender-affirming care initiatives during her graduate studies at UW-Madison. Heather is now an oncology genetic counselor at SSM Health Cancer Care in Madison, WI, and is dedicated to providing inclusive, quality healthcare and genetic services.   In this segment we discuss: Specific examples and terms used in gender-inclusive language. Comfort levels of genetic counselors with using gender-inclusive language. Findings from thematic analyses on the use of gendered language and its impact on patient care. Suggestions for additional training resources for healthcare professionals. Segment 2 “Experiences of hereditary cancer care among transgender and gender diverse people: “It's gender. It's cancer risk…it's everything”   Sarah Roth is a genetic counselor and a PhD candidate in Anthropology at Johns Hopkins University. She is a BRCA1 carrier whose research focuses on the experiences of patients, communities, and providers in cancer care and genomic medicine. Sarah has been a founding editor of Tendon at JHU’s Center for Medical Humanities & Social Medicine, a contributing writer at Synapsis: A Health Humanities Journal, and a recent predoctoral fellow in Bioethics at the National Institutes of Health.   In this segment, we discuss: Challenges faced by TGD individuals in accessing hereditary cancer care. Participants' perspectives on gendered language in healthcare. Actionable recommendations for healthcare providers to support TGD individuals with hereditary cancer syndromes.   Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.   Be sure to check out other episodes of DNA Dialogues by searching “DNA Dialogues” in your favorite podcast app or here. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com. DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and our own, Kira Dineen. Our logo was designed by Ashlyn Enokian.    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. 

Colleen Gioffreda was such a dynamic and charismatic guest in this episode of “It Happened To Me” we had to share it on DNA Today! Our host Kira Dineen is the Executive Producer on this podcast and joins as a guest host in this episode.    Colleen is the Clinical Operations Program Administrator for the Greenberg Center for Skeletal Dysplasias in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine. She handles patient inquiries, coordinates the Little People of America (LPA) Medical Advisory Board clinics at the national conferences and regionals, provides school/social resources to patients and parents, and also manages budgets and databases.    In her volunteer life, Colleen is LPA’s Adoption Coordinator, and has helped facilitate the adoptions of over 400 children with dwarfism for the past seventeen years. She is also the Chair of the LPA Conference Management Committee and is a member of LPA’s Medical Advisory Board.    Colleen is lucky enough to answer to the name of ‘Mom’ to her four children, who also all happen to have achondroplasia, the most common form of dwarfism. She views having achondroplasia as an opportunity, and feels fortunate to have experienced such a unique and rich adventure in life.    Episode Highlights:   Understanding Terminology and Accommodations: Appropriate terms for individuals with achondroplasia and skeletal dysplasias. Vital accommodations for people with dwarfism in various aspects of life.   Home Modifications and Misconceptions: Recommended home alterations for individuals affected by dwarfism. Addressing misconceptions and stereotypes about dwarfism in her work.   Employment and Workplace Challenges: Employment roadblocks faced by little people and necessary workplace accommodations.   Career Path and Key Responsibilities: Colleen’s journey towards helping the skeletal dysplasia community. Key responsibilities in her role, including patient inquiries and coordinating medical advisory board clinics.   School and Social Resources: Providing school and social resources to patients and parents. Importance of this support in managing skeletal dysplasias.   Adoption Advocacy: Motivations for becoming involved in adoption advocacy. Experiences and insights from facilitating adoptions of children with dwarfism. Countries with higher frequencies of children with dwarfism waiting to be adopted.   LPA Conference Management: Involvement in the LPA Conference Management Committee and the significance of organizing conferences. Memorable and rewarding experiences supporting individuals and families.   Parental Support: Approaching support and resources for parents raising children with achondroplasia.   Community Advocacy and Medical Collaboration: Pressing issues within the dwarfism community and advocacy efforts. Response to FDA-approved treatment for achondroplasia (VOXZOGO® (vosoritide)) and differing viewpoints. Collaborating with medical professionals and researchers to advance understanding and treatment.   Personal and Professional Perspective: Influence of personal experience with achondroplasia on professional approach. Current initiatives and projects to support individuals with skeletal dysplasias.   Future Hopes and Advice: Hopes for the future of care and support for individuals with dwarfism. Advice for professionals and volunteers supporting individuals with rare genetic conditions.   Colleen Gioffreda shares invaluable insights into the world of dwarfism, from personal experiences to professional advocacy. Her work with the Greenberg Center and LPA highlights the importance of community, support, and dedicated advocacy for individuals with skeletal dysplasias. Be sure to check out more episodes of “It Happened To Me”.    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 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. 

Discover New Advances in the world of genetics. From genetic technology like CRISPR to rare diseases to new research. For over a decade host Kira Dineen has chatted with leaders in genetics like NBC’s Maury Povich, BBC’s Dr. Adam Rutherford, NIH’s Dr. Eric Green, NYT’s Carl Zimmer, NYU’s Dr. Arthur Caplan, NYer’s Dani Shapiro, and descendents of Henrietta Lacks.  The show has consistently been ranked in the top 1% of podcasts worldwide, has won the Best Science and Medicine Podcast Award for three consecutive years (2020-2022), and is backed up over 70 sponsors.  Who is featured as a guest in this teaser trailer? It's Victoria Gray! Hear the full interview on Episode 288 and 289. 

How many biological children can one sperm donor create? What are the regulations surrounding donor sperm? How can prospective parents verify the sperm donor they selected is in fact the sperm they used to conceive?   The answers are shocking.   For two weeks “The Man With 1,000 Kids” was #1 on Netflix. As of this recording in late July 2024, it has amassed 5.5 million views. It is a documentary series that captures the impact one sperm donor has had on hundreds, or more likely thousands, of families around the world.    We're diving into this shocking story of fertility fraud with two people featured in this top streamed documentary. Eve Wiley is a leading advocate against fertility fraud after discovering that she was conceived with a different sperm donor than her parents were told. Laura is an Australian parent who discovered her two children’s sperm donor was a serial sperm donor Jonathan Jacob Meijer, whose impact is explored in this Netflix documentary series.  Episode Topics: How Eve, who was donor conceived, connected with Laura, who’s kids are donor conceived Eve’s motivation to become an advocate against fertility fraud, including her discoveries about her sperm donor and the impact on her family. Laura and her partner, Kate’s reactions to discovering the notoriety of their sperm donor, Jonathan Jacob Meijer, and the mysterious message about his actions. The emotional and psychological journey Laura and her partner have undergone since discovering the truth about their child’s biological origins. The implications of Jonathan’s refusal to share a list of his biological children, and the potential benefits such a list could offer to society and affected families. Genetic and psychological risks associated with widespread and unregulated sperm donation. Long-term concerns about inbreeding and the role of genetic sexual attraction in these situations. Current regulations and oversight of sperm donation, including the trial in the Netherlands and its significance in controlling male body autonomy. Comparison of sperm donation regulation to other areas of reproductive health. Current legislation in the United States regarding sperm donation and Eve’s efforts to change laws in Texas and other states. Challenges in advocating for fertility fraud legislation and ways people can support these efforts. Eve and Laura’s experience of having their stories featured on Netflix and the documentary’s impact. Jonathan’s actions post-trial, including his media appearances and any updates or public statements from him. Advice for individuals considering using sperm donation to start their families, with a focus on the importance of transparency and honesty in fertility treatments. Supporting children as they grow older and learn about their biological origins. The significance of making the New York Times front page with Jonathan’s story. The most challenging aspects of dealing with the situation. Messages for other families who might find themselves in similar situations. How society should address the issue of fertility fraud and ways people can get involved in advocating for stronger laws.   Takeaways Fertility fraud is a significant issue that affects families worldwide, and there is a need for legislation to address it. Genetic identity is crucial, and individuals have the right to know their biological origins. The fertility industry lacks proper regulations, leading to cases of fraud and potential risks of inbreeding. Support and advocacy are essential for donor-conceived individuals and their families. The lack of transparency and regulation in the sperm donation industry has led to cases of fraud and deception, with donors having more offspring than initially disclosed. There is a need for standardized guidelines and monitoring in the industry to ensure transparency and informed consent for all parties involved. Donor-conceived individuals and their families require mental health support and specialized counseling services to navigate the complexities and emotions associated with their unique situations. Advocacy efforts and legal action are necessary to bring about change and protect the rights and well-being of donor-conceived individuals and their families. Documentaries and media coverage play a crucial role in raising awareness and sparking conversations about the challenges and ethical considerations surrounding sperm donation.   During the episode we also mentioned H.R.451 - Protecting Families from Fertility Fraud Act of 2023 in the US. At the end of the show Laura recommended Donor Conceived Australia, an organization who has been working hard on legislation about importing donors which you can learn more about here.    You can learn more on Eve Wiley’s website here, particularly her pages about passed legislation and pending legislation.    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 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 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 on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

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, and ways professionals can contribute to these goals.   Advice for Genetic Counselors and Students Guidance for genetic counselors interested in transitioning to roles within the insurance industry. Advice for prospective genetic counseling students applying to programs, highlighting the importance of the Boise GC program and the upcoming program at Southern California University of Health Science.   If you are a prospective genetic counseling student, the application for the SCU MSGC program opened this week here.    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. 

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 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.