What’s stopping rapid genomic insight becoming routine care — and how we fix it? | LC26 Studio

What does it take to move a promising genomic research approach into routine clinical use — and who are the people navigating that boundary every day? In this day two studio session from the 12th London Calling conference, three researchers working at the intersection of research and clinical genomics discuss methylation classifiers, targeted RNA sequencing, rapid leukemia diagnostics, and the practical realities of bringing new tools into health systems. Kylie Montgomery from the UK Dementia Research Institute describes targeted RNA sequencing work in which all six previously unresolved rare disease patients yielded actionable findings. She explains the deliberate design choices made to ensure rapid adoptability in NHS settings — where bioinformaticians are already stretched, and where any new tool must be implementable quickly without requiring significant new infrastructure. Looking ahead, she also discusses the potential of epitranscriptomics and direct RNA sequencing to resolve cases that even a combined DNA and RNA approach cannot, as well as the longer-term challenge of connecting transcriptomic findings to protein-level biology in neurodegenerative disease research. Maria Reyes, working on acute leukemia at a US teaching hospital, explains why speed of genomic classification matters so profoundly in this disease: two patients with identical clinical presentations can have completely different molecular profiles, meaning treatment selection, risk stratification, and transplant eligibility all depend on rapid, comprehensive genomic characterisation. She describes how methylation adds a second layer of resolution that genetics alone cannot provide, and how her team is building towards an integrated classifier that combines both data types for real-time leukemia diagnosis — currently at pilot stage, with further development needed before clinical implementation. Alvin Ng, a bioinformatician based at a teaching hospital in Singapore, shares how a Friday afternoon experiment — noticing methylation data already present in an existing assay and asking whether it could be used to build a homologous recombination deficiency classifier — opened up an entirely new research direction. Trained on publicly available, well-characterised cancer cohorts as ground truth, the classifier is now being developed into a single integrated test using adaptive sampling. He also reflects on the currently low rate of HRD testing among eligible patients in Singapore, and the opportunity that a simpler, more accessible test could create for patients who would benefit from platinum-based therapies or PARP inhibitors. The conversation closes on the UK Biobank methylation data release anticipated for summer 2025, and its potential as a validation resource for classifier development across multiple groups and cohorts. Oxford Nanopore Technology is a research-use-only (RUO) platform. The clinical applications discussed in this session are at various stages of pilot and development; all represent forward-looking research goals rather than currently implemented clinical tests. Subscribe for more from London Calling — the annual conference for nanopore sequencing science. Learn more at nanoporetech.com #ClinicalGenomics #Methylation #RareDisease #AcuteLeukemia #LongReadSequencing #OxfordNanopore #LondonCalling #EpigenomicClassifier #NHSGenomics #HRD #TargetedRNA #Epitranscriptomics #Bioinformatics #PediatricLeukemia #GenomicMedicine