#223 PhenoTips: Rare Disease Diagnosis Workflow

Happy Rare Disease Month! With over 10,000 rare diseases, reaching a diagnosis is a long and arduous process for the 300 million people affected by a rare disease worldwide. Advancements in technology, bioinformatics, and improved collaboration hold the promise to end or reduce this diagnostic odyssey; however, valuable diagnostic data still remains siloed and fragmented within healthcare systems. To illuminate the ways in which interoperability can be harnessed to drive diagnosis, DNA Today host Kira Dineen and PhenoTips’ Dr. Orion Buske and Charles Keenan share their insights.DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 21st installment of the PhenoTips’ Speaker Series, “Building Integrated Workflows for Rare Disease Diagnosis”. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years. Dr. Orion Buske holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking, leading the technical working group of the Matchmaker Exchange as well as the redevelopment of RareConnect.org. Throughout his career he has also led the technical developments of both PhenomeCentral and PatientKind. In addition to his work building interoperable workflows for genomic medicine as Chief Executive Officer of PhenoTips, Dr. Buske remains an active member of the Global Alliance for Genomics and Health (GA4GH) where he co-leads the Pedigree Standards stream of the Clinical & Phenotypic Data Capture working group.PhenoTips’ Interoperability Specialist Charles Keenan is dedicated to building health technology products that easily share information among systems and providers, helping clinicians realize unprecedented health outcomes in our digital world. While working in genomics and ophthalmology, Charles was inspired to pursue a Master's in Health Informatics from the University of Toronto after experiencing first-hand the frustrations caused by healthcare technology for both patients and providers. Charles holds a BSc in Life Sciences and hopes to realize the future of genomics through leveraging new technology that builds communication between systems.In this panel discussion, Kira Dineen, Dr. Orion Buske, and Charles Keenan address:How PhenoTips is helping rare disease networks with the adoption of interoperability standards to integrate workflowsThe role of interoperable data in improving diagnostic outcomesThe application of structured pedigree and phenotypic data in diagnosisRecent rare disease projects across the US, UK, and CanadaThe PhenoTips Speaker Series is also available now as a podcast, so search “PhenoTips Speaker Series” wherever you are listening to this podcast (Apple, Spotify) to subscribe and stay updated on new episodes. Stay tuned for the next new episode of DNA Today on February 17th! New episodes are released every Friday. In the meantime, you can binge over 220 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. 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 Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know t