Dr. Orion Buske and PhenoTips Experts on Building Integrated Workflows for Rare Disease 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.

International leaders in genomics, Dr. Eric Green, Dr. Julian Barwell, and Dr. Fiona Brinkman, discuss the optimal utilization and collection of genomic data, challenges to applying population genomics in clinical care, the ethical considerations of data sets and methods to improve diversity, advancing clinical care through delivery models, channels, and technologies, and best practices for leveraging population genomics in routine clinical care.

International genetic counselors, and LGBTQ+ community members, advocates, educators, and researchers, Dr. Jehannine Austin, Andy Cantor, Josephine Giblin, and Katie Gallagher, discuss protecting patients during times of unprecedented legislation, creating psychologically safe and inclusive environments, supporting access to equitable care, representation in family history collection, and resources and best practices to support LBGTQ+ colleagues and patients.

Tier 1 Canada Research Chair in Rare Disease Precision Health and primary investigator at the national Care4Rare Canada Consortium, Dr. Kym Boycott, presents the methods by which Care4Rare facilitates the translation of genome-wide sequencing technology, explains how Care4Rare and the All for One Precision Health Partnership supports data-sharing and facilitates research, illustrates the national data infrastructure built on PhenoTips technology for sharing data and matchmaking, and provides three cases solved by Care4Rare after facing 10+ years long diagnostic odysseys.

Genetic counselors with research interests in burnout, Erin Wadman and Brittney Johnstone, and experienced Lead Genetic Counsellor, Vishakha Tripathi, discuss the factors leading to burnout among genetic counselors, signs to guide self-identification of burnout, mitigation and coping strategies, as well as resources and methods to help support colleagues experiencing burnout. Hosted by DNA Today's Kira Dineen.

Leader in the development of interoperability standards and PhenoTips CEO, Dr. Orion Buske, and PhenoTips' Interoperability Specialist, Charles Keenan, discuss the ways in which PhenoTips is helping rare disease networks with the adoption of interoperability standards to integrate workflows, the role of interoperable data in improving diagnostic outcomes, the application of structured pedigree and phenotypic data in diagnosis, and recent rare disease projects across the US, UK, and Canada. Hosted by DNA Today's Kira Dineen.