A Dutch implementation study presented at the European Society of Human Genetics meeting reported that long-read genome sequencing as a first-tier test improved interpretation and reduced time-to-diagnosis, even as diagnostic yield gains were comparable to standard-of-care testing. The study led by Tessa de Bitter compared the first six months of long-read results with short-read results from the prior year. De Bitter’s team reported a comparable conclusive diagnostic yield with long-read sequencing, with “slightly enhanced” results not yet statistically significant. The study emphasized workflow consolidation and interpretation improvements, alongside a high concordance rate between testing modalities. The work also describes operational rollout using Pacific Biosciences Revio systems, including expansion across several indications such as intellectual disability, visual impairment, coagulation disorders, and hearing impairment.