A collaboration between Karolinska Institutet, Karolinska University Hospital and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations of rare diseases at Karolinska University Hospital. To date, more than 15,000 patients have undergone whole-genome sequencing, and 23% have had a genetic diagnosis, according to a study published today. genomic medicine.
This study describes how Karolinska University Hospital and CylifeLab have developed a model over the past decade to integrate whole genome sequencing into the diagnostic evaluation of patients with suspected rare diseases. It summarizes data from 15,644 individuals and demonstrates how close collaboration between interdisciplinary clinical practice and advanced genomic analysis has enabled the introduction of whole genome sequencing into routine practice.
Provides a more comprehensive picture
Whole genome sequencing involves analysis of the entire genome and provides a more comprehensive picture than tests that analyze only part of the genome. The study showed that a genetic cause of the disease could be identified in 3,538 people, or 23%. These diagnoses include mutations in more than 1,500 different genes, highlighting the diversity and complexity of rare diseases.
For many patients suspected of having a rare disease, undergoing genetic diagnosis is extremely important. It provides a description of the patient’s condition and helps guide treatment, follow-up, and family planning. Whole-genome sequencing allows the detection of genetic changes that would otherwise go unnoticed. ”
Anna Lindstrand, Adjunct Professor, Department of Molecular Medicine and Surgery, Karolinska Institutet, Senior Consultant and Head, Department of Clinical Genetics and Genomics, Karolinska University Hospital
Diagnosed patients had a wide range of symptoms across different departments. Researchers say the majority of cases are children, and the vast majority would not have been diagnosed without a new multidisciplinary approach.
“In some cases, for example with inborn errors of metabolism or severe epilepsy, we were able to provide targeted treatment as a direct result of the diagnosis, preventing serious illness and early death,” says Anna Wedel, professor at the department, senior consultant at Karolinska University Hospital and director of the Karolinska Center for Precision Medicine.
Tailored to each patient
This model is based on close collaboration between clinical experts, geneticists, bioinformaticians, and laboratory staff, working within a coordinated and well-defined process. This allows you to tailor your analysis to each patient’s unique clinical presentation and quickly translate results into individualized care.
“By combining clinical medicine and advanced genomics, we have established a collaborative approach. I see this as part of a broader shift in the health system towards more precise and personalized care in Sweden, and this model could form an important basis for that development,” says Anna Wedel.
The study is a collaboration between Karolinska Institutet, Karolinska University Hospital and SciLifeLab.
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Reference magazines:
Lindstrand, A. Others. (2026). The Center for Genomic Medicine Karolinska has published a 10-year report on genome sequencing and phased clinical implementation strategies for rare diseases. Genomic medicine. DOI: 10.1186/s13073-026-01611-3. https://link.springer.com/article/10.1186/s13073-026-01611-3
