Community Research and Development Information Service - CORDIS

H2020

PRECeDI Report Summary

Project ID: 645740
Funded under: H2020-EU.1.3.3.

Periodic Reporting for period 1 - PRECeDI (Personalized PREvention of Chronic DIseases)

Reporting period: 2015-01-01 to 2016-12-31

Summary of the context and overall objectives of the project

The PREvention of Chronic DIseases consortium (PRECeDI) aims to provide high-quality, multidisciplinary knowledge through training and research in personalized medicine with specific focus on the personalized prevention of chronic diseases. There is a large consensus that personalized medicine is a driver of innovation for research and health care, and also for the health care system and industry as a whole. In order to harness the potential of this new concept, the “PRECeDI” consortium aims to train staff from academic and non-academic institutions on several research topics related to personalized prevention of cancer, cardiovascular and neurodegenerative diseases. The acquisition of skills from researchers will come from dedicated secondments aimed at training on different research topics not available at the home institutions. In details, five research domains will be addresses: 1) identification and validation of biomarkers for primary prevention of cardiovascular diseases, secondary prevention of Alzheimer disease, and tertiary prevention of head and neck cancer; 2) economic evaluation of genomic applications; 3) ethical-legal and policy issues surrounding personalized medicine; 4) sociotechnical analysis of the pros-and cons of informing healthy individuals on their genome; 5) identification of organizational models for the provision of predictive genetic testing. By training staff from leading Institutions in Europe, USA and Canada on several key aspects related to the integration of personalized medicine in the field of prevention, PRECeDI provides a cohesive framework in order to enable the seconded staff to make informed decisions that enhance public health and appropriately serve health care systems, new biotech industries and policy makers at the dawn of the post-genomic era.

Work performed from the beginning of the project to the end of the period covered by the report and main results achieved so far

In terms of the research activity carried out, the following results have been achieved:
WP2 - Identification of biomarkers for the prevention of chronic diseases.
• Task 2.1. Identification of biomarkers for the primary prevention of cardiovascular diseases.
Erasmus MC is evaluating the association of plasma metabolites with intima-media thickness in an isolated population of the Netherlands.
• Task 2.2. Identification of biomarkers for the secondary prevention of Alzheimer (AD):
Erasmus MC examined the associations of 299 metabolic measures with the general cognitive ability among cognitively healthy individuals in two cohorts.
• Task 2.3. Identification of biomarkers for the tertiary prevention of head and neck cancer (HNC).
UCSC worked on identification of specific miRNAs associated with the occurrence of recurrence, and Overall Survival (OS) by selecting plasma samples for the evaluation of the expression profiles of 233 miRNAs among 90 cases. The five significant miRNAs of the screening phase will be tested in an independent sample of 250 cases. Secondly, UCSC worked on evaluating the interaction between lifestyle factors and the resulting miRNA signatures.
WP3 - Economic evaluation of predictive genomic applications
• Task 3.1. Evaluation of the costs of the health care pathways triggered by some predictive and pre-symptomatic genetic tests.
Firstly, SAPIENZA in order to estimate the use of genetic tests in Europe and to investigate the public health professionals role in the implementation of genomics, has identified the Project National Referents of 16 European countries to individuate a panel of experts who are directly involved in genetic test delivery and management of patients. Four genetic tests were selected (BRCA1/2, Lynch syndrome, familial hypercholesterolemia and thrombophilia). Experts will be interviewed using on-line questionnaires.
• Task 3.2 Systematic review of the existing literature concerning the studies of effectiveness and the published full economic evaluations of predictive genetic tests and pharmacogenetic tests. (SAPIENZA).
Economic evaluation of predictive genomic applications is addressed through systematic reviews of economic evaluations of predictive genetic and pharmacogenetic tests. For this purpose, three genetic tests has been selected: BRCA1/2, Lynch syndrome and familial hypercholesterolemia.
WP4 - Ethico-legal and policy issues surrounding personalized medicine
• Task 4.1 Comparative analysis of national and international health policies, guidelines and legislation in public health genomics.
McGill is currently working on an online survey addressing Quebec health care professionals. The questionnaires collect facts and opinions on genetic service delivery models for the provision of four genetic tests, and on the assessment and policy planning of genetic services in the province of Quebec.
• Task 4.2 Analysis of the European scenario in terms of health policies developed or being developed at national level for public health genomics.
UCSC conducted a survey on existing national genomic policies in healthcare among Chief Medical Officers of the 28 EU member states, plus Norway.
WP5 - Sociotechnical analysis of the pros-and cons of informing healthy individuals on their genome.
• Task 5.1. Responsible translation of new genomics technologies in the context of screening of healthy adults.
VUMC worked on a sociotechnical analysis describing relevant actors and their arguments involved in balancing pros and cons of informing individuals on their genome. In particular it has started gathering literature, including policy documents on strategies and arguments regarding informing people on their genome.
• Task 5.2. Pathologist and Oncogenetics: test relevant tumors for microsatellite instability or panels of mutations.
The task zooms in on a setting where we can study attempts to inform more risk carriers about their genome. For monogenic cancer many patients are not recognized as mutation carriers. Still, their family members may be at 50% risk to carry the mutation, and risk reducing interventions are available. VUMC and BVHC have started identifying stakeholders in screening for hereditary cancers and have performed scoping interviews with pathologists and clinical geneticists specialized in Lynch syndrome in the Netherlands and UK.
WP6 - Identification of organizational models for the provision of predictive genetic testing.
• Task 6.1 Organizational models in place in EU.
A systematic review of the literature has been carried out to identify an operational definition of delivery models and a classification of genetic services delivery models to be adopted. The identification of delivery models for the provision of predictive genetic testing is carried out through a multidimensional approach, which includes systematic review of the literature, experts’ interviews and a survey of public health professionals in Europe.
• Task 6.2. Design systems that integrate genomic information to deliver personalized care.
BVHC and SAPIENZA are currently studying a methodology specific for CVD, AD, HNC.

Progress beyond the state of the art and expected potential impact (including the socio-economic impact and the wider societal implications of the project so far)

The results of PRECeDI project are relevant for the evolving public health practice, as they will contribute in providing evidence about the clinical validity and utility of genomics approaches, and their economic impact to the health systems; in addressing the policy to be put in place, and the societal challenges, so that effective comparisons can be made with other public health interventions, and to make this available to citizens, patients and physicians alike.

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