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.
"When whole-genome sequencing is integrated into the clinical environment, the right questions can be asked for each patient and adequate actions can be taken quickly. Whole-genome sequencing is already preventing early deaths and severe handicaps for patients with treatable rare diseases."
© ICPerMed/Yves Sucksdorff
Anna Wedell, Senior Consultant and Head of Centre for Inherited Metabolic Diseases, Karolinska University Hospital, and Professor of Medical Genetics, Karolinska Institutet
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.
Examples of the significance of genomic precision medicine in cancer and rare diseases
“Next-generation sequencing technologies have dramatically expanded our knowledge on genetic events underlying cancer development and progression. Thanks to the clinical implementation of next-generation sequencing in cancer diagnostics in recent years, we can now significantly improve patient risk stratification and identify potential targets for therapy. For several cancer types, such as lung cancer, colon cancer and leukemia, we can now match genetic aberrations with specific treatments and hence provide true personalised medicine.”
Richard Rosenquist Brandell, Professor of Clinical Genetics, Karolinksa Institutet and Senior Physician in Clinical Genetics at Karolinska University Hospital
“Inborn errors of metabolism can present acutely and may lead to severe brain damage or early death if not correctly treated. Some of these diseases can be treated with vitamins that are co-factors for critical enzymes. By rapid whole-genome sequencing, biotin-responsive basal ganglia disease was diagnosed in a previously healthy five-month old boy who had entered a coma after an infection. His older brother had died a few years earlier after a similar presentation. Following identification of two disease-causing mutations by whole-genome sequencing, prompt treatment was initiated and the boy woke up from his coma.”
Anna Wedell, Senior Consultant and Head of Centre for Inherited Metabolic Diseases, Karolinska University Hospital, and Professor of Medical Genetics, Karolinska Institutet
