In 2021, analyzes were performed of 5,000 samples with whole genome sequencing and almost 2,000 samples with whole exome sequencing in clinical routine in Sweden. The majority of these analyzes were performed for the diagnosis of patients with rare diseases. In addition, just over 15,000 gene panels were performed within healthcare. The analyzes performed at healthcare laboratories throughout Sweden have been compiled by Genomic Medicine Sweden in a report.

“In recent years, we have seen a large increase in how whole genome sequencing and gene panels are used in clinical practice around the country. It is gratifying that the new technologies have been able to be introduced widely and be of use for more precise diagnostics and more individualized treatment”, says Richard Rosenquist Brandell, director of Genomic Medicine Sweden.

The close collaboration between Genomic Medicine Sweden (GMS) and the SciLifeLab Clinical Genomics platform on the development of precision diagnostics has made it possible for whole genome sequencing for rare diseases to be performed at three university hospitals in the Region Stockholm, the Region Skåne and the Region Västra Götaland. The work is also performed in close collaboration with the regional Genomic Medicine Centers (GMC) established by GMS. From here, it was reported that in 2021, just under 5,000 samples for rare diseases have been analyzed with whole genome sequencing and just under 2,000 samples with whole exome sequencing. The university hospitals in these three regions receive patient samples for genetic analysis and then bioinformatics analyzes and clinical interpretation are performed, which are answered to referring doctors.

In 2021, it is also reported from the health care laboratories that just over 15,000 samples have been analyzed with gene panels for various forms of cancer and rare diseases. In particular, gene panels have been used in the diagnosis of solid tumors and in haematological diseases (a total of 13,300 samples). For just over a year now, the GMS-developed gene panel for myeloid leukemia has also been in clinical routine, and in 2021, 3,800 samples have been analyzed with the myeloid gene panel.

“The myeloid gene panel is the first gene panel developed by GMS and the Clinical Genomics platform to be used in routine clinical practice. We are also in the final phase of introducing a broad gene panel for solid tumors and another gene panel for lymphatic malignancies”, says Richard Rosenquist Brandell.

In microbiology and infectious diseases, it is reported that just over 45,400 SARS-CoV-2 samples have been analyzed with whole genome sequencing and just over 7,800 samples with metagenomics or whole genome sequencing.

The sequencing of the clinical samples has been performed through the healthcare laboratories in each healthcare region and compiled by GMS.

Read the report “Inventory of NGS-based analyzes in Sweden 2021” (in Swedish) at

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