Efficient advancement of Personalised Medicine depends on the availability of validated patient-targeted biomarkers. However, as our capacity to identify genetic variants associated with complex diseases increases, these do not fully recapitulate the resulting disease phenotypes, and a more precise understanding of the molecular profiles are needed.
This realisation provides a rationale for the development of multi-omic approaches. In order to turn the multi-omic promises into a reality, systemic bottlenecks impacting the biomarker field needs to be overcome:
- Poor levels of technological and analytical harmonisation;
- Poor data stewardship and compliance to the FAIR (Findable, Accessible, Interoperable, and Reusable) principles;
- Lack of understanding of the relationship between genomic biomarkers and downstream molecular markers (transcriptomic, proteomic, metabolomic, among others);
- Lack of reliable control reference values for these biomarkers in healthy populations;
- and Poor understanding of the clinical needs resulting in limited clinical adoption.
Tackling those issues in a systematic way is one of our main objectives. The consortium ambitions to deliver a multi-omic toolbox to support cross omic analysis and data integration in clinical samples.

The omic tools will be developed and tested with a real-setting demonstrator, an already established cohort of 1,000 healthy individuals in Czechia upon whom genomic sequencing has been already performed. Information available on this healthy individual cohort will be augmented during the project with transcriptomic, proteomic and metabolomic data.
By providing such toolbox to the research community, EATRIS-Plus will be the engine to enable high-quality research in the context of patient stratification and accelerate the implementation of Personalised Medicine solutions. EATRIS is the European Infrastructure for Translational Medicine providing services for accelerating biomedical innovation.