Abstract

During the project the lead partner AB Analitica, an established company in the in vitro molecular diagnostics sector, together with eXact Lab, an innovative company operating in the HPC and Big Data market, will collaborate with the Hospital Operative Units of Pathological Anatomy of Udine, Trieste and Pordenone.
Purpose of the project is to study and develop the know-how for the creation of an in vitro diagnostic (IVD) line of products.
At the end of 30 months research activity and after a validation phase, the NGS (Next Generation Sequencing) technology-based products, in accordance with the In Vitro Diagnostic Medical Device Directive (98/79 / EC), will receive the CE IVD label.
By the end of the project an integrated system composted by a sequencing platform and a bioinformatic analysis tool will be set by the partners in order to perform new diagnostic target analysis without re-performing the clinical validation of the entire panel.

Innovative features & competitive advantage

The introduction of a new method in the clinical routine is highly challenging, for this reason using of safe and effective technologies is required. Compared to the research field the introduction of new technologies for diagnostic solutions requires a high level of safety and control and must be compliant with specific technical aspects in order to ensure very high reliability levels. Project partners goal is to overcome the current NGS technology limits and innovate the methods in molecular biology currently in use.
During the project an innovative methodology of validation and identification of typologies of "difficult" genomic variants for the NGS system (such as CNV and MSI) will be developed.
 Furthermore, a modular approach for the design, development and validation of diagnostic tests will be validated.
Strength of the innovative system will be the ability to complete molecular characterization of the sample, even in conditions of scarcity of material, such as the biopsies cases.

Market sector & future business

The Domino project goal is the construction of a composed system characterized by the combination of technologies validated in the laboratory, using clinical routine samples (relevant environment)
Completed the technology optimization phase, it will be possible to define a roadmap for quickly prototyping and market placing of a IVD products line useful for medical reporting.
The innovative system performance will overcome the current techniques of molecular biology, and gain a considerable competitive advantage over the competitors. Thanks to the greater efficacy in patient treatment, the system will simplify the health system procedures and ensure an optimization of health care system expenditure.