Tonight, I continued watching the London Calling 2024 Clinical & Biopharma Day on Friday, May 24, 2024. I continued watching the expert panel on “Rare diseases reimagined: genomics in early detection and precision therapies,” which I started watching last night. Nabihah Sachedina, the VP of Health Programs with Oxford Nanopore Technologies (ONT) moderated the session. Paul Arvidson from Genomics England and SWAN in the UK. Arvidson answered a question about his daughter and their diagnostic odyssey. They spoke about how terrifying learning about some of the potential diseases was. Arvidson explained that the Genomics England datasets helped. Having an early diagnosis would have simplified the process. There are only a dozen kids with this rare disease, Arvidson said. Some of those parents could benefit greatly from learning more. Arvidson’s daughter has endured many tests, they explained. Joris Vermeesch from KU Leuven in Belgium said that they are experimenting… this is research. For methylation analysis, they had to use the national supercomputer. Vermeesch says that they are now “stabilizing’ some of the tools. They said that they are entering a stage of rapid adoption. Vermeesch predicts rapid adoption as the tools improve. Emma Baple, a professor at the University of Exeter and South West NHS Genomics Laboratory Hub in the UK, spoke about the challenges of implementing research technologies into clinical settings. Baple noted that they are ready to go with some elements of long-read sequencing… and gradually replace or implement additional elements. Baple mentioned that they now use long-read sequencing examples in training that were not used last year. Danny E. Miller from the University of Washington described how the interest in long-read sequencing in clinical settings has facilitated the transition. Miller noted that the current issue is the “payer problem” and who gets reimbursed. Nick Seddon with Optum Genomics recounted how Genomics England was successful in part because of the support it received from the government. Vermeesch answered a question about biobanking and population-specific SNV databases. Vermeesch said that a tool to learn about cell lines and different databases available would speed up rare disease diagnostics. Baple answered a question about how information about rare diseases is so important to parents. Providing an answer can help parents plan. Baple emphasized that in some cases, not much is known, but the information from this child will help others with this disease. Parents have often driven the research. A question asked by the audience was about what arguments can be presented about long-read sequencing to clinical lab directors and legislators. Seddon spoke about emphasizing the importance of diagnosis instead of the technology. Miller spoke about ordering tests to help parents and get as much information as possible. The panelists were asked several questions and ran out of time. I enjoyed learning from all of them. Even though this isn’t directly my field, I am very interested in long-read sequencing and preparing for current and future use cases. This session provided ideas for what to emphasize in courses and when working with undergraduate scholars.
