Researchers at Radboud University Medical Center and Maastricht University reported early implementation results that long-read genome sequencing (Pacific Biosciences) improves interpretation and reduces workflow fragmentation in rare disease testing in the Netherlands. At the ESHG annual meeting, investigators compared results from the first six months of long-read use with prior short-read pathways. They reported a comparable diagnostic yield to standard testing, with slightly enhanced but not yet statistically significant improvements, while emphasizing higher workflow consolidation. The program is using automation for sample prep on Hamilton stations and six PacBio Revio machines dedicated to diagnostics.