Rare diseases

Genomic Medicine Sweden Rare Diseases has as its goal to ensure that all patients in Sweden with a suspected rare genetic disease will have access to the best and most adequate genetic investigation. New techniques for gene sequencing make it possible to analyse an individual’s whole genetic material and open up for better diagnostics and faster treatment.

Female doctor talking with younger woman.

There are currently over 8,000 identified hereditary diseases, which include uncommon diagnoses that fall under the category of “rare diseases”, as well as somewhat more common hereditary diseases, such as hereditary cardiovascular diseases, neuromuscular diseases and cancers with a significantly increased hereditary risk.

In Sweden, a disease is defined as rare if it leads to a disability and occurs in less than 1 out of every 10,000 people. There are a large number of rare diseases so even if each disease may be rare in itself, there is a large number of people in Sweden that are affected. More than 80 percent of rare diseases have a genetic cause and many are chronic and life threatening.

Since rare diseases are uncommon on an individual basis but large by number, it is very difficult for individual physicians to have a complete picture of all of these diseases. This means that many patients with rare diseases and other hereditary diseases have to wait a long time before they are diagnosed, meaning that they will also need to wait for a long time to receive treatment and follow-up. This is why a broad collaboration on a regional, national and international level is needed to improve care for these patients.

Technical development leading to better diagnostics

During the past few years, genetic methods that are built on so called next-generation sequencing (NGS) have become increasingly common in clinical diagnostics, which has enabled a shift in investigation strategy. Instead of analysing one gene at a time, so called gene panels are now used, where all known genes that may produce a clinical picture are included. As one of few places globally, analysis of an individual’s entire genetic material, so called whole genome sequencing, is now also an integrated part of healthcare across Sweden for rare diseases. More than 5,000 samples have already been analysed with the use of this technique, and during the next few years this number will be scaled up in order to meet the need that exists in this area.

The right diagnosis and faster treatment

When whole genome sequencing is integrated into healthcare, more people with rare diseases will receive a genetic explanation of their symptoms. This will lead to more patients receiving better medical treatment and follow-up. Whole genome sequencing already prevents premature death and severe disabilities for patients with treatable rare diseases.

Hereditary diseases in GMS

We want every patient in Sweden with a suspected hereditary disease to receive the most appropriate genetic test. Depending on what diagnosis is suspected this might be whole genome sequencing or a narrower analysis such as sequencing of the protein coding part of the genetic material (known as Whole Exome Sequencing). Within Genome Medicine Sweden (GMS) we are now aiming to coordinate gene sequencing in order to provide patients who have hereditary diseases, including rare diseases, the best diagnostics possible. We will do this through seven Genomic Medicine Centers (GMC) that are currently being built in all regions with university healthcare. A national pilot project is taking place in 2019-2020, where we offer clinical whole genome sequencing to patients with a suspected rare disease. Patients and parents who are included in the project will be selected through regional GMCs or through clinical genetic units at respective university hospitals. During the pilot phase we will be focusing on individuals with suspected rare genetic diseases that lead to severe disabilities such as developmental delay and malformation syndromes.

National coordination in rare diseases and other hereditary diseases

The team for rare diseases in GMS works actively within national networks such as the National Care Programme for Rare Disorders and the Swedish Society of Medical Genetics and Genomics (SFMG) and it also collaborates with the patient organisation Rare Diseases Sweden.

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.