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 are being sequenced in patients affected by cancer. As part of this task, we will include a number of pharmacogenes, which affect how the patient responds to specific drugs. There are established clinical guidelines on how to manage patients who carry variants of these pharmacogenes that increase the risk of side effects or lack of response to medicines. Warnings should be included in the medical records of patients with these variants to facilitate the selection and dosing of the correct medicine.

Pharmacogenomics and Childhood Cancer

In 2024, the GMS pharmacogenomics and childhood cancer groups started a collaboration with the aim of exploring pharmacogenes. First, a list of drugs commonly used in the treatment of children with leukemia and solid tumors was made. For 22 of the listed drugs, genes affecting drug choice and dosage were identified. International clinical guidelines were then compiled for these genes and drugs. The next step is to extract the genes from the GMS sequence data. Initially, we will use data from a small group of children who experienced unusually severe toxicity during leukemia treatment. In the future, we hope to use pharmacogenes in GMS sequence data to avoid unnecessarily severe toxicity when treating all children with cancer.

Co-chairs Pharmacogenomics

Erik Eliasson
Mia Wadelius

Co-chairs Pharmacogenomics – Childhood cancer

Henrik Green
Gustaf Ljungman

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.