Dr. Nara Sobreira, Matthew Osmond, and Dr. Orion Buske on Matchmaking for Rare Disease Diagnosis

A panel discussion and interactive Q & A with the strategists, developers, and researchers behind patient matchmaking initiatives. Hosted by Kira Dineen.Dr. Nara Sobreira, Matthew Osmond, and Dr. Orion Buske discuss:Patient matchmaking as a driver of diagnosisThe technology, interoperability, and structured data powering matchmaking platformsThe future of matchmaking and international collaborationLearn more about the Variant Level Matching Network.Learn more about the Matchmaker Exchange.

A panel discussion and interactive Q & A with thought leaders in genomics and genetics revenue researchers and advocates. Hosted by Kira Dineen, Dr. Colleen Campbell, Dr. Eric Green, Brian Reys, and Marianne Olson discuss:Demonstrating the direct and downstream benefits of multiple genetic subspecialtiesNavigating the challenges of funding and reimbursement in light of evolving billing codesHow to build strong business cases

An international panel of cancer genetic counselors with research and advocacy interests in LGBTQ+ affirming care, NHS Bristol’s Josephine Giblin, Dana-Farber Cancer Institute’s Diane Koeller, and Boston University School of Medicine’s Kimberly Zayhowski, discuss:Risk considerations for trans and gender diverse cancer genetic counseling patientsCreating safe and inclusive environments in cancer genetic counselingProtecting patients during times of unprecedented legislationResources and methods to support trans and gender diverse patientsHosted by DNA Today's Kira Dineen.Resources and further reading:Navigating sexual orientation and gender identity data privacy concerns in United States genetics practicesNSGC Policy Statement: Distinguishing Sex and Gender to Reduce HarmTGD CanScreen ProjectCanadian Resource: Queering CancerCoppaFeel: UK patient resource with gender based language selection

Erica Peacock, PhenoTips' in-house genetic counselor and Genetics Workflow Consultant, demonstrates the practical application of PhenoTips' pedigree software in a mock genetic counseling session featuring genetic counseling student, Ariel Modeste, as the "Patient". Following the mock genetic counseling session, DNA Today's Kira Dineen moderates and guides an audience Q&A addressing various aspects of PhenoTips' pedigree software.Throughout the mock session and following discussion, Kira, Ariel, and Erica address:How the pedigree builder is used in genetic counseling practiceThe pedigree builder’s relationship to patient & family recordsCommonly asked questions about the pedigree builder considerationsTips & tricks for using the pedigree builder

Rare disease researchers and advocates, past and future organizers of the Undiagnosed Hackathon initiative, Helene Cederroth, Dr. Wendy van Zelst-Stams, Dr. Angelica Delgado Vega, Dr. Eric Klee, and Dr. Orion Buske, discuss the innovative annual Undiagnosed Hackathon events.The international panel discuss:International barriers to rare disease diagnosisGlobal collaboration as a method to drive diagnosisDriving principals, goals, and outcomes of the Undiagnosed HackathonsResources, methods, and technologies to facilitate collaborative diagnosis

2024 recipient of the Natalie Weissberger Paul National Achievement Award from the NSGC, Laura Hercher, Associate Director of Genetic Counseling at the Dana-Farber Cancer Institute, Jill Stopfer, and Innovation Specialist and Chair of the British Society for Genetic Medicine, Demetra Georgiou, discuss the changing roles genetic counselors will play as genomics goes mainstream. The international panel of genetic counselors discusses:Visions for genomic mainstreamingChanging roles of genetic counselors under mainstreamingPast, present, and future barriers to genomic mainstreamingExamples of current genomic integrations

Queer genetic counselor at Boston Children's Hospital, Rozalia Valentine, and lead prenatal genetic counselor at BillionToOne, Chelsea Wagner, discuss creating psychologically safe and inclusive environments, supporting access to equitable care and reproductive options, representation in family history collection, and resources and ways to support LBGTQ+ colleagues and patients,Mentioned in this episode:Rare Insights: Uncovering The Future Of Rare Disease Treatments“Rare Insights” dive deeps into the complexities of rare diseases, exploring real-world insights from passionate industry leaders. Together, we navigate the unknowns and unlock the potential for groundbreaking treatments. Because in this journey, we’re all rare, sharing unique insights and experiences that drive innovation and progress. Learn more by searching for "Rare Insights" wherever you get your podcasts.

PhenoTips' Chief Technology Officer Dr. Orion Buske and Genomenon's Chief Scientific Officer Dr. Mark Kiel discuss current and future applications of AI in genomics, limitations to the application of AI in genomics, the role of AI in advancing precision medicine, and ethical, legal, and social implications of the application of AI in genomics.

Professor and Director Emeritus of Geisinger’s Department of Genomic Health, Dr. Marc S. Williams, addresses the current shortcomings of EHR systems in the genomics age, barriers faced in expanding EHR systems to be compatible with genomic information, the role of EHRs in advancing genomic medicine, and ethical, legal, and social implications involved in incorporating genomic information into EHRs.

Principal Investigator at the International Laboratory for Human Genome Research (LIIGH), UNAM, Dr. Claudia Gonzaga-Jauregui addresses challenges in improving the accessibility of rare disease care, barriers faced by medical professionals and patients, improving diversity in data sets and ethical considerations, and best practices in improving equitability of rare disease care.