Pharmacogenomics

– The right drug to the right patient

Pharmacogenomics is the study of how genes affect a person’s response to drugs. Genomic Medicine Sweden (GMS) will analyse selected pharmacogenes that have an effect on the response to certain pharmaceuticals used in the treatment of malignant diseases. The goal is to prevent adverse response to these treatments. This will be the first time pharmacogenes are analysed on a large-scale before the start of drug therapy in Sweden.

Three hands holding each other in hospital environment.

Individual suffering and large costs related to adverse reactions

Every year approximately ten percent of Sweden’s healthcare budget is used to cover costs caused by adverse drug effects. Hospitalizations and visits to the emergency department are among the major posts, but costs arise in several parts of the medical care-chain. Nearly 95 percent of all people are carriers of some form of genetic variant that affects our response to drugs.

Analysis of high-risk genes

Within GMS, a large number of genes will be sequenced in patients who suffer from malignant disease. As part of this task, we will include variants of selected pharmacogenes that affect the response to specific drugs. We will generate a pipeline for the translation from sequence data into actionable pharmacogenetic variants.

New guidelines, studies and education

Clinical guidelines taking actionable variants into account have been developed to support clinicians in the choice of drug and dose. Information about this will be given to clinicians in Sweden. Detected actionable variants will be translated into clinical recommendations describing how to manage treatment in carriers of these variants. Clinical studies will be initiated into other genetic variants that may affect drug treatments.

This initiative will be highly significant for patients affected by malignant diseases, since the pharmacogenes that affect the choice and dose of drugs can be tested before the initiation of treatment.

Introduction disease areas

Genomic Medicine Sweden (GMS) focuses primarily on disease areas where there is currently definite evidence that suggests that genetic analyses can be used to diagnose disease, or where genetic deviations are important to prognostic assessment, choice of treatment and follow-up. We work primarily with rare diseases, solid tumours, hematological malignancies, infectious diseases and pharmacogenomics. GMS also has a particular focus on childhood cancer.