Descripción del proyecto
Estrategia de vigilancia para la prevención de los síndromes de riesgo de tumores poco frecuentes
Los síndromes de riesgo tumoral poco frecuentes (SRTPF) son enfermedades raras con un riesgo muy elevado de desarrollar cáncer a causa de variantes genéticas hereditarias. Los pacientes con SRTPF no diagnosticados desarrollan cánceres especialmente agresivos, que conducen a una muerte prematura. Los SRTPF son evitables si se controla a los pacientes asintomáticos de SRTPF y se aplica una intervención precoz. Los objetivos del equipo del proyecto PREVENTABLE, financiado con fondos europeos, consisten en combinar los conocimientos clínicos sobre las vías de atención ante SRTPF, así como los datos clínicos y experiencias reales de los pacientes afectados por SRTPF, con modelos de economía sanitaria y métodos de ciencias sociales. En el proyecto se pondrá de relieve la relación entre coste y beneficio de las intervenciones de reducción de riesgos en SRTPF y se ofrecerán directrices para mejorar la comunicación entre los equipos clínicos y los pacientes con SRTPF.
Objetivo
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.
Ámbito científico
Palabras clave
Programa(s)
- HORIZON.2.1 - Health Main Programme
- HORIZON.2.1.6 - Health Care Systems
Régimen de financiación
HORIZON-RIA - HORIZON Research and Innovation ActionsCoordinador
4200-135 Porto
Portugal