Data management and informatics
Genomic Medicine Sweden has a vision to expand and accelerate the implementation of precision medicine within the Swedish healthcare system. Sweden already performs whole-genome sequencing in clinical routine for patients with rare diseases whilst approximately 10,000 sequencing panels are conducted each year for patients with cancer.
The ambition within Genomic Medicine Sweden (GMS) is to analyze up to 50,000 samples per year by 2023, covering the majority of patients with rare diseases and cancer.
To ensure that we can realize the full potential of genetic data produced within the healthcare setting one of our main aims during the initial phase of GMS is to build a national informatics infrastructure. This infrastructure will enable the unified analysis, interpretation and sharing of genetic data in Sweden, whilst also providing secure storage. A key aspect of this work will be ensuring that data can be shared both at a national level but also amongst international collaborators.
Sweden currently lacks a coordinated national solution for the storage and sharing of patients’ genetic data between the country’s 21 county councils responsible for healthcare delivery. The national informatics infrastructure will allow for secure storage and sharing of genetic data between the seven Genomic Medicine Centers (GMC) that together cover all of Sweden´s healthcare regions. The work will be carried out in the form of pilot studies that will then be scaled up and rolled out nationally.
GMS aims to establish a national database of genetic variants. The database will be available for healthcare providers and researchers provided that the necessary ethical approvals have been secured. The opportunity to combine this information with Sweden’s extensive existing national disease registers and biobanks will be an invaluable resource for research, potentially leading to new discoveries and breakthroughs in precision medicine.