Researchers in the Netherlands reported early implementation results suggesting that long-read genome sequencing as a first-tier test can reduce time to diagnosis and follow-up testing, even if diagnostic yield remains similar. Presenting at the European Society of Human Genetics meeting, Tessa de Bitter of Radboud University Medical Center described a workflow comparison using the first six months of long-read sequencing versus short-read testing from the prior year. The group reported a comparable diagnostic yield with a slight, not-yet-statistically-significant increase, while emphasizing improved variant interpretation and workflow consolidation. They also described scaling logistics including automation for sample prep on Hamilton liquid handling and sequencing on Pacific Biosciences Revio instruments dedicated to diagnostics. The report builds on prior evidence from a New England Journal of Medicine pilot study, which found increased conclusive diagnoses largely due to haplotype phasing and detection of novel variants. Together, the data support expansion planning as sequencing costs decline and capacity improves.
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