Karolinska genome sequencing reached 22.6% diagnostic yield in 15,644 people with suspected rare diseases
Whole-genome sequencing at the Genomic Medicine Center Karolinska produced an overall diagnostic yield of 22.6% across 15,644 people with suspected rare diseases. The figure comes from a ten-year report in Genome Medicine, published in 2026. The Swedish centre was set up in 2017, with healthcare and academia working together. The authors also lay out a strategy for bringing sequencing into routine clinical care in stages.
Clinical laboratories, and the patients they serve, get a planning reference from ten years of the centre's experience. The report does not establish clinical benefit.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].