Clinical diagnosis can be challenging – but the ongoing development of diagnostic and prognostic biomarkers is paving the way towards improved therapy. This week, recent advances in biomarker research are presented in three articles published in BMC Medicine. Der-Yuan Chen and colleagues from National Yang-Ming University report the discovery of germinal center kinase-like kinase (GLK) as a biomarker for disease activity of adult-onset Still’s disease, a rare form of inflammatory arthritis. Assessment of the levels of this biomarker will be useful in establishing therapy efficacy.

Research by Shan-shan Zhang and colleagues at Second Military Medical University demonstrates that expression of the markers CD133 and CXCR4 is associated with metastasis and reduced survival in a mouse model of colon cancer, suggesting that these proteins could be used to monitor disease severity and could be targeted in metastatic cancer therapy.

Sileny N Han and colleagues from University Hospitals Leuven explore the expression of cancer biomarkers during pregnancy in a systematic review. Markers are differentially expressed in pregnant women compared with non-pregnant patients, and so the diagnosis and treatment of cancer during pregnancy cannot always be extrapolated from non-pregnant patients. In agreement with this principle, the authors demonstrated that gynecological tumor marker levels can increase during normal pregnancy, concluding that elevated markers alone should not lead to invasive diagnostic procedures that could put the fetus at risk.

These research articles emphasize the high interest and research activity in establishing new and more effective biomarkers for a range of diseases, and highlight the importance of studying biomarkers in different physiological situations such as pregnancy, where their levels can be altered. However, very few of these biomarkers discovered in research settings end up being used in clinical practice, and the reasons, and possible solutions for this apparent dichotomy, are discussed in a commentary by Prof Eleftherios Diamandis, who recommends specific strategies to avoid so-called ‘false discovery’.

These articles are included in our Clinical Biomarkers article collection (https://www.biomedcentral.com/series/clinical_biomarkers), which covers recent advances in the clinical applications of biomarkers across a range of medically-relevant topics.