LA SPEZIA – The objective of SInISA (Integrated screening and data governance system based on aging markers and on the prediction of the development of haemato-oncological and cardiovascular diseases in the adult/elderly population) is to study and define a process and its management methods to support the healthcare system in the transition from clinical studies to a care service for screening and taking charge of the patient. In particular, SInISA will be used as a feasibility study to allow the early diagnosis of haemato-oncological (acute myeloid leukemia in the elderly) and cardiovascular diseases in the adult/elderly population in the short future. Screening is, in fact, the key tool of the so-called Secondary Prevention, i.e. the set of activities and interventions aimed at achieving an early diagnosis of diseases when they are still in an asymptomatic phase. This can encourage the introduction of innovative therapies capable of combating these pathologies before their onset.
SInISA, a project financed under the Regional Program call – Pr – for the use of the European Regional Development Fund – ERDF – for the period 2021-2027, is headed by a consortium of partner companies that express multidisciplinary skills in a logic of public/private collaboration.
SInISA lays the foundations for evaluating the organizational model with a view to supporting screening processes that systematically include DNA sequencing and analysis supported by Artificial Intelligence.
In the long term, there will be a tendency to make what is still a pilot process in the SInISA project a practice progressively and systematically implemented by the Health Authorities in disease screening.
The SInISA project idea is inspired by two studies: the first research is that carried out by researchers from the Israeli Weizmann Institute of Science on Acute Myeloid Leukemia (AML) published in 2018 in the journal Nature; the second is that of the Humanitas Research Hospital in Milan. Specifically, researchers from the Weizmann Institute found genetic mutations already present in samples 6-7 years before the development of Acute Myeloid Leukemia (AML), while Humanitas staff highlighted how specific patterns (combinations) of genetic mutations in some blood cells are associated with the development of myeloid leukemias.
SInISA, therefore, intends to lay the methodological, organisational, infrastructural and technological foundations to support predictive medicine capable of properly reading and analyzing DNA.
In fact, in subjects over 50 years of age, biomedical research demonstrates that the risk of developing hemato-oncological and cardiovascular diseases can be estimated and predicted by monitoring genetic mutations. The incidence of mutations in subjects over 60 is proportional to the progression of age: 60-69 years range equal to 5.6%, 70-79 years 9.5%, 80-89 years 11.7%, over 90 18.4%. It is, therefore, possible to identify preventive strategies to guarantee a significant reduction in the risk of these pathologies. Currently, there are 230 thousand deaths per year from cardiovascular diseases in Italy.
In general, the screening process in the territory of the Ligurian ASL 5 will follow two macro phases: the first will be aimed at collecting a few thousand blood samples (large sample), the second is positioned at a greater level of detail to identify a narrow target of possible subjects at risk (at least 300 patients) to be subjected to further analyses. In the second case, the genome will be sequenced using Next Generation Sequencing techniques supported by predictive models based on artificial intelligence
This dynamic is made possible because there are sentinel values in the blood, identifiable with standard blood count analyses, which can help narrow down the investigation sample of the aforementioned mutations.
The solidity of the SInISA project is based on various factors, including the background of the research group denoted by the complementarity of skills and long experience in the fields of tumor immunology as well as by the presence as scientific contact of Professor Francesco Frassoni, former Laboratory Director of research at the Giannina Gaslini Scientific Institute of Genoa.
SInISA is the result of a public-private partnership led by DEDALUS Italia SpA, the main supplier of healthcare and diagnostic software at a global level, which works alongside LEONARDO (through its Cloud Computing Organizational Unit and the Leonardo AI research area LABS), GENARTIS (start-up in the field of personalized genomics), VIS – Gruppo ETT – Virtual Immersions in Science, first Spinoff in the history of the Scuola Normale Superiore of Pisa (innovative methods of communication and dialogue with institutions and the population in target), RULEX Innovation Labs (advanced data analysis), CHERRYCHAIN (innovative technologies for the security and protection of sensitive data) and University of Genoa (Department of Experimental Medicine-DIMES-Laboratory of Molecular Immunology and SRV Strategic Center – Professor Emanuela Marcenaro)
