Epigenetic biomarkers: Current strategies and future challenges for their use in the clinical laboratory

Abstract

Epigenetic modifications and regulators represent potential molecular elements which control relevant physiological and pathological features, thereby contributing to the natural history of human disease. These epigenetic modulators can be employed as disease biomarkers, since they show several advantages and provide information about gene function, thus explaining differences among patient endophenotypes. In addition, epigenetic biomarkers can incorporate information regarding the effects of the environment and lifestyle on health and disease, and monitor the effect of applied therapies. Technologies used to analyze these epigenetic biomarkers are constantly improving, becoming much easier to use. Laboratory professionals can easily acquire experience and techniques are becoming more affordable. A high number of epigenetic biomarker candidates are being continuously proposed, making now the moment to adopt epigenetics in the clinical laboratory and convert epigenetic marks into reliable biomarkers. In this review, we describe some current promising epigenetic biomarkers and technologies being applied in clinical practice. Furthermore, we will discuss some laboratory strategies and kits to accelerate the adoption of epigenetic biomarkers into clinical routine. The likelihood is that over time, better markers will be identified and will likely be incorporated into future multi-target assays that might help to optimize its application in a clinical laboratory. This will improve cost-effectiveness, and consequently encourage the development of theragnosis and the application of precision medicine.

Keywords:

• Epigenetic biomarkers
• DNA methylation
• histone postranslational modifications
• miRNAs

Acknowledgments

J. L. G-G thanks INCLIVA and GVA for the starting grants (GV/2014/132) and AES2016 (ISCIII) for grant number PI16/01036, co-financed by the European Regional Development Fund (ERDF). J. L. G-G. and FVP thank Grand Challenges Canada and the Spanish Ministry of Economy and Competitiveness, ISCIII through CIBERER (Consorcio Centro de Investigación en Red del Instituto de Salud Carlos III, CIBER-ISCIII and INGENIO2010). L. P-C thanks GVA for the starting grants (GV/2016/029) MEC, ISCIII, FEDER for grant PT13/0010/0004. T.O.T acknowledges grant support from the NIH (R01 CA178441 and R01 CA204346) as well as the American Institute for Cancer Research (316184). P.L. has a grant from AES2016 (ISCIII) PI15/01481.

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

J. L. G-G thanks INCLIVA and GVA for the starting grants (GV/2014/132) and AES2016 (ISCIII) for grant number PI16/01036, co-financed by the European Regional Development Fund (ERDF). J. L. G-G. and FVP thank Grand Challenges Canada and the Spanish Ministry of Economy and Competitiveness, ISCIII through CIBERER (Consorcio Centro de Investigación en Red del Instituto de Salud Carlos III, CIBER-ISCIII and INGENIO2010). L. P-C thanks GVA for the starting grants (GV/2016/029) MEC, ISCIII, FEDER for grant PT13/0010/0004. T.O.T acknowledges grant support from the NIH (R01 CA178441 and R01 CA204346) as well as the American Institute for Cancer Research (316184). P.L. has a grant from AES2016 (ISCIII) PI15/01481.