Denmark has a highly specialised center capable of analysing patient genomes

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

The two highly specialised laboratory units in east and west generates 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 total genome is carried out with the help of so-called Next Generation Sequencing (NGS) equipment. The patient's genome is sequenced, which is a proces that produces large sets of data. Bioinformaticians hereafter process the data with the help of the supercomputer. The very advanced procedure's purpose is to identify changes in the patient's entire genome.

Genome changes will be interpreted according to international guidelines and divided 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 is taken into account when the identified genome changes are used to make a diagnosis or a possible diagnosis. On this basis, the clinical treatment can be planned, and the patient can be referred to relevant control programmes. The result of the genome analysis is sent to the doctor who is responsible for the patient's treatment. The doctor will explain the patient about the genetic finds and inform him/her of further treatment and control.

Genetic analysis in 10 steps