A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. To date, more than 15,000 patients have had their entire genome sequenced, with 23 per cent receiving a genetic diagnosis, according to a study published in Genome Medicine.
The study describes how, over the past decade, Karolinska University Hospital and SciLifeLab have developed a model in which whole genome sequencing is integrated into the diagnostic evaluation of patients with suspected rare diseases. It summarises data from 15,644 individuals and demonstrates how close collaboration between multidisciplinary clinical practice and advanced genomic analysis has enabled the…