Sequencing an individual’s complete genome


Karolinska University Hospital’s Genomic Medicine Center is one of only a few centers in the world currently sequencing an individual’s complete genome. The Center is part of the Genomic Medicine Sweden project that aims to strengthen precision medicine nationwide.

With the awarding of a two-year grant from Vinnova, work will begin on a broad front to further develop and establish the new genomics in healthcare.
All of the country's regional centers for genomic medicine (so-called Genomic Medicine Centers) at the university hospitals are in various start-up stages in establishing the new sequencing methods into care, which will ultimately benefit the patients.

Anna Wedell Photo: Stefan Zimmerman

The Karolinska University Hospital includes the Genomic Medicine Center Karolinska (GMCK), which comprises part of the Karolinska University Laboratory in collaboration with SciLifeLab. There, clinical work has been in full swing for a year.

At GMCK, we are one of only a few worldwide that are already conducting clinical complete genome sequencing. This means that with these new techniques we are able to sequence an individual's complete genome and that thanks to our proprietary tools, are able to focus the analyses on the right part of the genome so that it is adapted to the patient's symptoms," explains Anna Wedell, who is the Research Group Leader for Rare Inborn Disease Diagnoses at GMCK and physician at the Center for Inherited Metabolic Diseases, Karolinska University Hospital.

Richard Rosenquist Brandell Photo: Magnus Bergström

The goal of the project is for all patients in Sweden to have access to sequencing, to improve diagnostics and provide individually adapted treatment and followup.

"We have come the furthest in the area of inherited diseases; but, we also work a lot with the introduction of broad gene panels for cancer to enable tailored treatment," explains Richard Rosenquist Brandell, Group Leader for GMS and Senior Physician of Clinical Genetics at Karolinska University Hospital.

Facts about GMS

Genomic Medicine Sweden (GMS) is conducted as a broad collaborative project between different social actors, healthcare, the university and the medical faculty, Science for Life Laboratory (SciLifeLab), the business sector and patient associations.