A decade-long collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has successfully integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. According to findings published in Genome Medicine, more than 15,000 patients have undergone sequencing, with 23% receiving a genetic diagnosis.
The new study outlines how this integration evolved into a functioning clinical model built on collaboration between healthcare professionals and genomic scientists. It presents data from 15,644 individuals, showing how multidisciplinary teamwork has made genome sequencing a practical tool in routine care.
The study shows that a genetic cause of disease could be identified in 3,538 individuals, corresponding to 23% These diagnoses involved variants in more than 1,500 different genes, highlighting the diversity and complexity of rare diseases.
“For many patients with suspected rare diseases, receiving a genetic diagnosis is highly significant. It can provide an explanation for their condition and help guide treatment, follow‑up, and family planning. Whole genome sequencing allows us to detect genetic changes that would otherwise remain unnoticed,” says first author Anna Lindstrand.
Patients who obtained diagnoses represented a broad range of medical areas, with a substantial portion being children. Many might not have been diagnosed through traditional methods. “In several cases, for example, in congenital metabolic disorders and severe epilepsies, we have been able to offer targeted treatment as a direct result of the diagnosis, preventing severe disease or early death,” explains senior author Anna Wedell.
The approach relies on close coordination between clinicians, laboratory experts, and bioinformaticians. This structure enables customized analyses for each patient’s presentation and rapid translation of results into clinical recommendations. “By bringing together clinical medicine and advanced genomics, we have established a joint approach. I see this as part of a broader shift in the healthcare system towards more precise and personalised care in Sweden, and the model could form an important foundation for that development,” Wedell adds.
Publication details: Lindstrand, A., Lagerstedt-Robinson, K., Jemt, A. et al. The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation. Genome Med 18, 30 (2026). https://doi.org/10.1186/s13073-026-01611-3
The new study outlines how this integration evolved into a functioning clinical model built on collaboration between healthcare professionals and genomic scientists. It presents data from 15,644 individuals, showing how multidisciplinary teamwork has made genome sequencing a practical tool in routine care.
The study shows that a genetic cause of disease could be identified in 3,538 individuals, corresponding to 23% These diagnoses involved variants in more than 1,500 different genes, highlighting the diversity and complexity of rare diseases.
“For many patients with suspected rare diseases, receiving a genetic diagnosis is highly significant. It can provide an explanation for their condition and help guide treatment, follow‑up, and family planning. Whole genome sequencing allows us to detect genetic changes that would otherwise remain unnoticed,” says first author Anna Lindstrand.
Patients who obtained diagnoses represented a broad range of medical areas, with a substantial portion being children. Many might not have been diagnosed through traditional methods. “In several cases, for example, in congenital metabolic disorders and severe epilepsies, we have been able to offer targeted treatment as a direct result of the diagnosis, preventing severe disease or early death,” explains senior author Anna Wedell.
The approach relies on close coordination between clinicians, laboratory experts, and bioinformaticians. This structure enables customized analyses for each patient’s presentation and rapid translation of results into clinical recommendations. “By bringing together clinical medicine and advanced genomics, we have established a joint approach. I see this as part of a broader shift in the healthcare system towards more precise and personalised care in Sweden, and the model could form an important foundation for that development,” Wedell adds.
Publication details: Lindstrand, A., Lagerstedt-Robinson, K., Jemt, A. et al. The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation. Genome Med 18, 30 (2026). https://doi.org/10.1186/s13073-026-01611-3