Denmark has a highly specialised center capable of analysing patient genomes

One of our primary objectives at the National Genome Center is to map patient genomes. As a consequence, we have a highly specialized national sequencing operation. Two specialized laboratory units, one in the east and one in the west of Denmark respectively, are used to ensure full-country coverage.

The two highly specialised laboratory units in east and west generate the large amounts of data from analysed samples. The supercomputer then identifies changes in the genome. These changes are interpreted by clinical professionals who relay answers to the responsible doctor, who then gets a very precise and detailed picture of how the patient can be treated most efficiently.

Analysis of patient data

The analysis of the patient’s entire genome is carried out with the help of so-called Next Generation Sequencing (NGS) equipment. The patient's genome is sequenced, which is a process that produces large sets of data. Bioinformaticians then process the data using a supercomputer with the help of the supercomputer. The purpose of this highly advanced procedure is to identify changes in the patient's entire genome.

Genome changes will be interpreted according to international guidelines and categorised according to their expected importance. The categories are: benign, presumed benign, of unknown importance, potentially disease-causing, disease causing.

Analysis results

The patient's disease report and family history are taken into account when the identified genome changes are used to make a diagnosis or a possible diagnosis. Based on this information, clinical treatment can be planned, and the patient can be referred to relevant control programs. The results of the genome analysis are sent to the doctor responsible for the patient's treatment. The doctor will then explain the genetic findings to the patient and inform them about further treatment and monitoring.

Genetic analysis in 10 steps