“We are grateful for the Ministry of Social Affairs’ increased support and long-term investment in GMS. This work that we do together, healthcare, academia, patient organisations and industry, is an important part of the continued development towards precision health for all patients,” says Mats Ulfendahl, Research Director Region Östergötland and chairman of the GMS Steering Committee.

The funding will be used for continued investments in the areas of childhood cancer, rare diseases, acute leukaemia, solid tumors and microbiology to further develop precision diagnostics, and continue implementation and scale up use in healthcare.

Precision medicine database for childhood cancer

SEK 4.9 million will be used to continue work on the BrainChild innovation project.

The work of GMS Childhood cancer has led to the implementation of whole genome sequencing in routine care for all children diagnosed with cancer in Sweden. To further advance the development of personalised treatment for children with cancer, the large data sources that already exist need to be linked together. In collaboration with the Swedish Childhood Cancer Fund, the National Genomics Platform the Child Tumour Biobank and the Swedish Childhood Cancer Registry, among others, a system is being built to link large-scale data types such as whole genome sequencing, use of targeted therapy, survival data and digital imaging in a systematic way.

Long-read sequencing to solve complex rare diseases

Whole genome sequencing of individuals with suspected rare diseases enables diagnosis for nearly 40 percent of previously undiagnosed patients. For patients with complex chromosomal abnormalities, current standard methods in routine care have been insufficient and GMS Rare diseases has shown that long-read sequencing has great potential for this patient group.

SEK 14.5 million may be used for a national implementation project of whole genome sequencing for rare health conditions based on long DNA reads, and for continued national/international work on children with undiagnosed rare health conditions with malformations and/or intellectual disabilities.

Precision diagnostics for acute leukaemias

Several different genetic analyses are currently used to diagnose acute leukaemia within healthcare. Pilot projects carried out within the GMS show that whole genome sequencing as a single method is likely to replace current analyses. In addition, it can provide new and important information in a significant proportion of cases, which can improve both risk assessment and treatment decisions.

SEK 6.3 million is allocated to the fcontinued work on national implementation of whole genome and transcriptome sequencing for adults with acute leukaemia and for the development of gene panel analysis for sensitive detection of residual disease.

Scale-up and further development of precision diagnostics for solid tumours

The GMS-developed broad gene panel covering more than 500 cancer-linked genes has since 2022 been gradually implemented in healthcare to provide detailed molecular information that can lead to targeted treatment, the possibility for patients to be included in clinical studies and to improved diagnostics and prognostics. In addition to scaling up and further developing the analysis of tumour tissue, analyses of circulating tumour cells in blood, known as liquid biopsies, are being developed, which provide increased opportunities for diagnosis, follow-up and, by extension, early detection of disease.

SEK 19.5 million will be used for scaled-up implementation and further development of precision diagnostics (tissue and liquid biopsies) for solid tumours in routine care and for clinical studies.

Limiting the spread of antibiotic-resistant bacteria

In the field of microbiology and infectious diseases, GMS has established a national collaboration between all clinical microbiological laboratories, SciLifeLab Clinical Genomics and the Public Health Agency of Sweden, where, by developing and using various precision diagnostic methods and shared analysis tools for interpreting data, work is being done to detect and limit the spread of resistant bacteria across the country. Real-time data sharing via the National Genomics Platform will be key to this.

SEK 4.8 million is allocated for continued work on implementing precision diagnostics in infectious diseases, including the detection of antibiotic resistance, and for increased data sharing between regions for the detection of outbreaks of antibiotic-resistant bacteria.

The Clinical Genomics platform at SciLifeLab

In most of the funded projects, the Clinical Genomics platform at SciLifeLab will be an important infrastructure and collaborative partner for developing new precision diagnostic solutions and bioinformatic analysis tools.

SEK 30 million is also allocated to GMS to continue to strengthen the national work and ensure long-term sustainable development that promotes equal implementation of precision health in the country. The funding will also enable GMS to continue developing the National Genomics Platform so that data can be made available nationally and internationally.

“This investment gives us the opportunity to continue our hard work to develop and introduce precision medicine in a sustainable way in healthcare so that patients have equal access wherever they live in the country. This is a true team effort, both between all of us hundreds of clinicians and diagnosticians working within GMS, but also with the many other actors in Sweden we collaborate with,” says Richard Rosenquist Brandell, Director of GMS.

Source: GMS