Description du projet
Stratégie de surveillance pour la prévention des syndromes du risque de tumeurs rares
Les syndromes du risque de tumeurs rares (SRTR) sont des maladies rares qui présentent un risque très élevé de développement d’un cancer en raison de variantes génétiques héréditaires. Les patients atteints de SRTR non diagnostiqués développent des cancers particulièrement agressifs, qui entraînent une mort prématurée. Les cancers SRTR peuvent être évités grâce à la surveillance des patients asymptomatiques atteints de SRTR et à une intervention précoce. Les objectifs du projet PREVENTABLE, financé par l’UE, comprennent la fusion des connaissances cliniques sur les parcours de soins de la SRTR et les données et expériences cliniques des patients atteints de SRTR en situation réelle avec des modèles économiques de santé et une approche des sciences sociales. Le projet mettra en évidence le rapport coût-bénéfice des mesures de réduction des risques de la SRTR et fournira des lignes directrices pour une meilleure communication entre les équipes cliniques et les patients de SRTR.
Objectif
Rare tumour risk syndromes (RTRS) are rare diseases, affecting 5 per 10.000 people or less and caused by heritable genetic variants. In RTRS, the lifetime risk to develop various cancers can be as high as 100%, and patients have a 50% chance of transmitting the disease to their offspring. When undiagnosed or not surveilled, many asymptomatic RTRS patients develop particularly aggressive cancers, leading to premature death, severely impacting theirs and their families’ health and wellbeing. Cancers in RTRS can be prevented and survival rates maximized if asymptomatic RTRS patients are intensively surveilled for RTRS-prone organs, cancer-prone organs are surgically removed prior to disease development, or very small cancerous or pre-cancerous lesions are removed or treated. RTRS are therefore a unique and tangible context for cancer prevention, early diagnosis and treatment with curative intent. However, risk-reduction strategies are not always prioritized in genetically diagnosed and asymptomatic RTRS patients, and most healthcare systems keep on opting for treatment of clinically expressed cancer. This occurs despite the knowledge that hospitalization has the highest weight on advanced cancer healthcare spending. It is therefore urgent to demonstrate the cost-benefit of the application of preventive measures in RTRS syndromes.
The ambition of the PREVENTABLE project is to merge specialized clinical knowledge on RTRS pathways of care, real-life clinical data from RTRS patients and experiences from professionals and patients, with health economic models and social sciences approaches to estimate the cost-benefit of risk-reduction interventions in RTRS and delineate guidelines for its communication among and within clinical teams and RTRS patients. PREVENTABLE project results will be delivered to a diversity of stakeholders, including policy-makers, in order to promote the implementation of cost-effective RTRS patient-centered care in Europe.
Champ scientifique
Mots‑clés
Programme(s)
- HORIZON.2.1 - Health Main Programme
- HORIZON.2.1.6 - Health Care Systems
Régime de financement
HORIZON-RIA - HORIZON Research and Innovation ActionsCoordinateur
4200-135 Porto
Portugal