In order to deliver top tier diagnostics and research, thus enabling individualised therapies and follow-up strategies, regional Genomic Medicine Centers (GMC) will be established at all university hospitals in Sweden.
The primary focus of the GMS initiative will be patients with rare inherited diseases, cancer and infectious diseases. The next phase will also encompass other complex diseases, including for example cardiovascular, autoimmune and psychiatric diseases.
Already today, more than 7,000 samples are processed annually in Sweden using large-scale sequencing for inherited diseases and cancer, often resulting in an immediate impact on clinical decision-making and patient care. As one of few places world-wide, clinical whole-genome sequencing is being integrated into healthcare on a national level for patients with rare diseases. The ambition is now to leverage these pilots to a national effort, analysing up to 50,000 samples for rare disease and cancer patients annually.
The GMS initiative was formed in 2017 as a bottom-up initiative by the national Diagnostics Development platform at Science for Life Laboratory (SciLifeLab). With the support from the Swedish Government, through the Swedish Innovation Agency Vinnova, the GMS initiative was established as a national project in 2018. The initiative is being implemented as a broad collaborative project between different societal stakeholders including healthcare providers, universities, SciLifeLab, the private sector and patient organisations.
To start delivering genomic personalised medicine on a national scale, the focus is now on building a common informatics infrastructure for data processing, interpretation and storage. The GMS initiative is part of several European and international personalised medicine collaborations and networks, focusing for example on international standards for data sharing and on sharing experiences in different disease areas. This is a particularly relevant aspect for inherited diseases and rare cancer types.
Furthermore, the GMS initiative also includes health economics as well as a legal and ethical framework for how data can be shared between healthcare, academic researchers and the private sector. It further provides trainings in personalised medicine for healthcare personnel. The GMS initiative will also offer a unique research resource for identifying disease-causing events that could pave the way for the development of new drugs, innovative solutions, and enhance collaboration between sectors.