Diagnoses and drugs tailored for every patient

Johan Botling and Gilbert Lauter are analyzing cancer biopsies in order to find the unique molecular fingerprint of each cancer.

Johan Botling and Gilbert Lauter are analyzing cancer biopsies in order to find the unique molecular fingerprint of each cancer.

Precision medicine based on molecular diagnostics is now being widely introduced in Swedish healthcare. Based on gene sequencing, it paves the way for adapting treatments to individual patients’ needs. Uppsala University is a powerful driving force in the development of precision medicine through Genomic Medicine Sweden (GMS), the major national investment that was recently awarded funding for further expansion.

“The whole field of medicine is being transformed, above all in terms of drug treatment. Modern drug development has made it possible to find substances that can be given to subgroups of patients with specific changes in their genomes. These are small patient populations with molecularly defined variants of cancers, congenital diseases or infections,” explains Johan Botling, researcher at the Department of Immunology, Genetics and Pathology, and Uppsala University’s representative in the management group of GMS.

The introduction of precision medicine entails a sweeping change, and its efficient implementation requires new ways of working. This is why GMS started in 2018, as a broad collaboration among health care, patient organisations and Sweden’s seven universities with faculties of medicine, including Uppsala University.

Massive quantities of data

Sweden’s innovation agency Vinnova, jointly with regions and universities, is to invest SEK 220 million in GMS over the next three years. This will lay the foundation for functioning infrastructure, in the form both of laboratory activities and of platforms that enable management of the massive quantities of data collected when all the sequencing results are analysed and stored.

The hub of the initiative is Clinical Genomics Uppsala, a clinical sequencing platform formed by Uppsala University, SciLifeLab (the Science for Life Laboratory) and the University Hospital. Participants in the work include Botling’s own research group in molecular tumour pathology.

Johan Botling is Uppsala University’s representative
in the management group of GMS.
Photo: Mikael Wallerstedt

 “Our job is to look at cancer biopsies – that is, small tissue samples from patients’ tumours. Each tumour is completely unique. What we do is to produce a detailed molecular fingerprint for every patient’s cancer. In the fingerprint, we can find targets for new, effective cancer drugs. Thanks to this research, we’ve been able to deliver comprehensive molecular tumour profiling in routine health care for over a year now, as the first laboratory in Sweden to do so,” Botling says.

The method is used in MEGALiT (MolEcularly Guided Anti-Cancer Drug Off-Label Trial), a clinical study in which new targeted drugs are tested on cancer patients when all established treatments have already been tried and found ineffective.

Non-invasive prenatal diagnosis

In other parts of the clinical sequencing platform, further diagnostic tools have been developed. One example is non-invasive prenatal diagnosis using blood samples from pregnant women. Another is ultra-sensitive tracing of remaining tumour cells in leukaemia patients after treatment.

During the pandemic, microbiologists devised an entirely new rapid sequencing method to enable detection of new COVID-19 variants that have arisen as a result of mutations in the viral genome.

“It’s great that Uppsala University is at the forefront when it comes to precision medicine. The future is already here, so it’s important to take advantage, in a coordinated way, of all the new technology and knowledge that are emerging in this country,” Botling concludes.

Åsa Malmberg

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