A single blood test could in future provide a more comprehensive picture of cancer than current methods. In a review article published in the journal Genome Medicine, researchers at Karolinska Institutet describe how several different biological signals can be analysed simultaneously from the same blood sample to detect and monitor cancer diseases.
Researchers and clinicians currently use so-called liquid biopsies, in which material from tumours can be detected in the blood. The method is less invasive than traditional tissue samples and can be used to monitor disease progression over time. In the current review article, researchers summarise developments in a growing field of research in which several different molecular signals are combined in the same analysis. These signals may come, among other things, from free DNA and RNA in the blood, as well as from changes in the structure of the genome and chemical markers.
The researchers call the approach “multifeature sequencing-based liquid biopsy” (MSLB). The idea is not only to look for a single change linked to cancer, but to combine several types of information to provide a broader picture of the tumour’s characteristics.
Photo: Private
“By analysing several biological signals simultaneously from the same blood sample, we can potentially gain a more complete picture of the biology of cancer than by studying each signal separately,” says Mariano A. Molina Beitia , researcher at the Department of Laboratory Medicine , Karolinska Institutet.
The article describes several research studies in which combinations of different signals have been used to detect cancer or monitor the disease over time. For example, analyses of DNA methylation, fragment size and chromosomal changes in blood have shown promising results for the early detection of several types of cancer. The researchers also describe how advanced bioinformatics methods and machine learning are used to interpret the large amounts of data generated.
Challenges remain
At the same time, the researchers emphasise that the technology still faces several challenges. Many studies have been carried out in limited patient groups, and the results need to be confirmed in larger prospective studies. In addition, the methods are technically complex, and there are still no common standards for how the analyses should be performed and quality-assured across different healthcare centres.
Photo: Private
“For the technology to be widely used in healthcare, standardised workflows, independent validation and studies demonstrating the benefits of the analyses for patients are needed,” says Daniel Hagey at the Department of Laboratory Medicine and senior researcher in the study.
The researchers believe that the first clinical applications will most likely be in monitoring cancer patients, assessing treatment effects and situations where repeated tissue samples are difficult to obtain. In the longer term, the method could contribute to a more integrated and dynamic picture of cancer development based on a simple blood sample.
The study is a collaboration between researchers at Karolinska Institutet, Karolinska University Hospital, Vrije Universiteit Amsterdam, Erasmus MC and the University of Manchester. The work was funded in part by the Centre for Innovative Medicine in Region Stockholm, the Swedish Childhood Cancer Fund, the Åke Wiberg Foundation, the Swedish Cancer Society, the Felix Mindus Fund for Leukaemia Research, and the Ruth and Richard Julin Foundation. The authors report no conflicts of interest.
Publication
Multifeature sequencing-based liquid biopsy for cancer diagnosis and monitoring.
Molina MA, De Simoni M, Moldovan N, Mouliere F, Hagey DW
Genome Med 2026 Aug;18(1):
