Diabetes has emerged as a global pandemic affecting more than 420 million people worldwide, a number expected to further rise in the next decades. The disease has very heterogeneous outcomes and accurate patient staging or prediction of subsets of individuals likely to develop disease and/or progress to disease complications are currently unmet clinical challenges in need of urgent attention. OPTOMICS aims to research methodology that can deliver a paradigm shift in type 2 diabetes healthcare, by integrating 1) molecular phenotyping, 2) a new generation of phenotypic measurements in humans, representative of diabetes onset and progression, allowed by novel portable and non-invasive optoacoustic technology and 3) cutting-edge computational approaches leveraging progress in Artificial Intelligence. This research will develop and validate a digital twin model that catalyses a step change in shortening the path to translation, enabling applications in the entire spectrum from target identification & prevention/prognosis to patient stratification for type 2 diabetes and its complications. In addition to the research and technology goals, OPTOMICS places special attention to the ethical needs and implications of the work performed and further aims at exemplary project management, human measurements, dissemination and communication activities and updating an adept exploitation plan for the digital twin developed.

Sepsis is a potentially fatal condition that arises when the body’s response to an infection damages its own tissues and organs. It is mainly caused by bacteria and fungi, which spread through the blood circulation. It is one of the biggest public health issue in the EU and worldwide due to its high incidence, mortality, human and economic cost. Early diagnosis is crucial to the management of sepsis, as every hour of delay of appropriate antibiotic therapy increases mortality by 5-10%. Unfortunately, sepsis diagnosis remains one of the greatest clinical challenges in critical care. Current diagnostic methods, including blood culture and different nucleic acid based multiplex technologies, are impaired by the significant time-delay of 1-2 days and/or low sensitivity of 30-50%. Hence there is an urgent need to develop new diagnostic tools that can provide more accurate and earlier sepsis diagnosis, so that patients with sepsis can be administered with rapid and correct initial antimicrobial treatment. The SMARTDIAGNOS project will advance sepsis diagnosis by simplifying clinical sample analysis methods and integrating the currently required numerous steps into a single streamlined device. This will be achieved by combining a number of innovative technologies: 1) 3-dimentional sample concentration to process large amount of raw sample; 2) direct PCR in the 3D microstructure to circumvent DNA extraction step; 3) solid-phase PCR to achieve unlimited multiplexing capability; 4) supercritical angle fluorescence (SAF) microlens array for enhanced fluorescence detection and precise quantification of sepsis-related pathogens. The SMARTDIAGNOS system will go beyond the state of the art for shorter time (1-3 h), higher sensitivity (95%), higher selectivity (99%), multiplexing capability, antimicrobial resistance profiling, and automation. Fast and correct sepsis diagnosis will improve patient outcome, shorten intensive care stay and thus reduce health costs.

Molecular in vitro diagnostics and biomedical research have allowed great progress in personalised medicine but further progress is limited by insufficient guidelines for pre-analytical workflow steps (sample collection, preservation, storage, transport, processing etc.) as well as by insufficient quality assurance of diagnostic practice. This allows using compromised patients’ samples with post collection changes in cellular and extra-cellular biomolecules’ profiles thus often making diagnostic test results unreliable or even impossible. To tackle this, SPIDA4P aims to generate and implement a comprehensive portfolio of 22 pan-European pre-analytical CEN/Technical Specifications and ISO/International Standards, addressing the important pre-analytical workflows applied to personalized medicine. These will also applicable to biomarker discovery, development and validation as well as to biobanks. Corresponding External Quality Assurance (EQA) Schemes will be developed and implemented as well, aiming to survey the resulting quality of samples and diagnostic practice. SPIDIA4P will ensure stakeholder organisations involvements as well as training, education, and counselling as additional major foci of the project. The consortium will closely coordinate with large European public research consortia to obtain access to research and validation studies data serving as evidence for the new standards developments and achieved improvements of diagnosis, patient stratification and prognosis of disease outcome. At this crucial moment in the development of personalised medicine, SPIDIA4P proposes a coordination and support action that reunites 19 highly experienced partners in international standardisation for in vitro diagnostics, coming from private industry including SMEs, public institutions and from one official European Standards Organisation. This strong consortium is balanced and empowered to maximise the impacts of in vitro diagnostics on personalised medicine.