Implementation data from the Netherlands suggest long-read genome sequencing can streamline rare-disease diagnostics when used as a first-tier test. Presenters at the European Society of Human Genetics meeting reported that six months of experience produced a comparable diagnostic yield to short-read sequencing, while improving interpretation and reducing follow-up testing. Radboud University Medical Center and Maastricht University UMC+ deployed Pacific Biosciences long-read sequencing using automation for sample preparation and dedicated Revio machines for diagnostics. The team said the approach consolidates workflows even when yield gains are not yet statistically significant. The program builds on a prior NEJM pilot that reported a 3% increase in conclusive diagnoses for 832 patients, largely attributed to haplotype phasing and identification of novel variants. With costs falling and capacity increasing, the teams said they are ready for broader clinical implementation across indications such as intellectual disability, visual impairment, and additional categories added over time.
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