A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden
Ameur, A.; Taylan, F.; Ek, M.; Eisfeldt, J.; Häggqvist, S.; Pettersson, M.; Bunikis, I.; Klar, J.; Strandh, M.; Josefson, R.; Barbaro, M.; Beskow, A.; Blomberg, A.; Bondeson, M.-L.; Carlberg, D.; Corcoran, P.; Duba, I.; Ellegard, R.; Engström, G.; Fall, T.; Frykholm, C.; Gallardo, M.; Gruvberger Saal, S.; Gummesson, A.; Gustafsson, P.; Hagwall, A.; Hallin, J.; Heintz, J.; Helgadottir, H. T.; Hellstedt Kerje, S.; Henmyr, V.; Henry, O. J.; Höijer, I.; Ivarsson, S.; Jemt, A.; Jernberg, T.; Johansson, A.; Soller, M. J.; Jonsäll, L.; Jonson, T.; Jonsson, F.; Karrman, K.; Kashyap, A.; Koc, A.; K
Show abstract
To evaluate the clinical implementation of long-read genome sequencing (lrGS) and establish the population reference resources needed to support its use in diagnostics, we integrate two complementary initiatives: Genome of Sweden (GoS), Sweden's contribution to Genome of Europe (GoE), and the Genomic Medicine Sweden - Rare Diseases (GMS-RD) long-read sequencing pilot. The initial GoS release of 576 individuals provides population-scale maps of genetic and epigenetic variation. Among 485 GMS-RD probands, 161 (33.2%) receive a molecular diagnosis, with lrGS providing added clinical value in 40 (24.8%). As a first-line test, lrGS could have avoided at least 42 follow-up analyses and an additional testing cycle in 7.2% of probands, reducing costs and the burden on patients. By integrating population and clinical long-read genomics, Sweden establishes a national ecosystem for genomic research and clinical diagnostics. Our findings support the clinical implementation of lrGS and offer a scalable model for national collaboration.
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