Blood cancer diseases are one of the main causes of death from cancer in Sweden. Genetic variations can affect the prognosis as well as the choice of treatment. Development of new methods for analysing complete or partial genomes can lead to improved diagnostics nationwide while also providing ideas for new forms of treatment.

Sjukvårdspersonal håller handen på ryggen på äldre kvinna.

Hematology involves abnormal blood formation and different abnormalities that can lead to cancer. Blood cancer occurs in many forms and it is caused by genetic changes (mutations) in blood-forming cells which lead to sick blood cells to accumulate at the expense of healthy blood cells.

Blood cancer diseases, such as leukemia, lymphoma and myeloma, are diagnosed in roughly 3,400 people in Sweden per year and represent 7 percent of all forms of cancer. In children, leukemia is the most common form of cancer representing approximately half of all cases of cancer. Blood cancer is one of the most common reasons of death from cancer in Sweden.

All cancer cells display genetic changes compared to healthy cells from the same individual and it is common that the same genetic changes occur in a given type of cancer. Genetic analyses are already used in hematology to divide patients into risk groups with different prognoses and different treatment options. However, the methods that are used for diagnostics often vary between hospitals in Sweden. In order to provide all patients with the same access to medical care, we at Genomic Medicine Sweden (GMS) want to develop and implement a common diagnostic procedure across the country, while strengthening research in the area.

The same gene panel for different diagnoses

Since different genes are significant to different diagnoses of cancer, a variety of different gene panels are currently used in hematology. GMS’s hematology group will be developing two wider gene panels (one for myeloid malignancies and one of lymphatic malignancies), which contain hundreds of genes that are significant to several different hematologic diseases. The pilot project will be in progress during 2019-2020 with the objective of evaluating the value of the new gene panels compared to existing methods.

Whole genome sequencing and acute leukemia

Acute leukemia is characterised by structural changes to chromosomes, which are currently analysed with the use of different molecular and microscopic methods. With the support from Sweden’s Science for Life Laboratory (SciLifeLab), GMS is conducting a specific project involving acute leukemias that have previously been analysed with the use of more traditional methods. It is our hope that by developing methods that will identify the whole genetic material of cancer cells with one single analysis, we will in the long run be able to replace several of the methods that are currently used – enabling us to offer even better diagnostics across the country.

Diagnosis and follow-up of hereditary hematology

Most cases of blood cancer are caused by genetic mutations that occur in healthy cells. However, in up to 10 percent of cases, genetic changes that have been inherited from one or both parents play a significant role. We are working to produce guidelines for how these patients will be diagnosed and followed-up on.

National coordination in hematology

GMS’s hematology group works in close collaboration with regional Genomic Medicine Centers (GMC), facilities for clinical genomics in SciLifeLab, clinical diagnosis/care program groups and the Swedish Society of Hematology.

Co-chairs Hematology

Lucia Cavelier
Thoas Fioretos

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.