Periodic Reporting for period 1 - PREVENTABLE (CANCER PREVENTION VS CANCER TREATMENT: THE RARE TUMOUR RISK SYNDROMES BATTLE)
Reporting period: 2023-01-01 to 2024-06-30
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.
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.
During the first reporting period, RTRS patient trajectories, respective parallel condition-specific pathways of care and associated clinical procedures were defined for all PREVENTABLE syndromes. In addition, healthcare consumption costs/prices for each clinical procedure were identified. The information collected was used to develop an IT tool for the systematic registration of real patients’ data and automated cost estimation of their pathways of care. Once data collection is completed, costs of prevention- vs. treatment-related care pathways will be compared, and timings of application of primary and secondary prevention measures, and survival intervals following late diagnosis will be characterized. A systematic literature review was also performed to retrieve data from the literature to model the onset and progression of each RTRS.
To identify the behavioural determinants influencing the choices made by RTRS patients and clinical teams regarding care pathways uptake and recommendations, respectively, questionnaire surveys for each of these groups were designed and implemented. The insights gained from the surveys will inform the development of guidelines for recommending and communicating preventive care pathways in RTRS using a person-centered approach.
In parallel, a PREVENTABLE European stakeholder database was created, and the strengths (S), weaknesses (W), opportunities (O), and threats (T) in RTRS care pathways at the policy and health systems levels were identified. This analysis focused particularly on potential solutions to mitigate weaknesses and neutralize threats. Additionally, educational outreach and audio-visual materials related to RTRS knowledge, were developed. The first "PrevenTalk" event took place to foster interdisciplinary collaboration and drive actionable policy changes to support individuals and families affected by RTRS.
To identify the behavioural determinants influencing the choices made by RTRS patients and clinical teams regarding care pathways uptake and recommendations, respectively, questionnaire surveys for each of these groups were designed and implemented. The insights gained from the surveys will inform the development of guidelines for recommending and communicating preventive care pathways in RTRS using a person-centered approach.
In parallel, a PREVENTABLE European stakeholder database was created, and the strengths (S), weaknesses (W), opportunities (O), and threats (T) in RTRS care pathways at the policy and health systems levels were identified. This analysis focused particularly on potential solutions to mitigate weaknesses and neutralize threats. Additionally, educational outreach and audio-visual materials related to RTRS knowledge, were developed. The first "PrevenTalk" event took place to foster interdisciplinary collaboration and drive actionable policy changes to support individuals and families affected by RTRS.
PREVENTABLE’s ambition is to produce solid scientific and clinical evidence, including cost-benefit models and guidelines for RTRS communication, to enhance RTRS healthcare management. This will allow informed decisions by RTRS patients, healthcare professionals, hospital administrators and policymakers. For that, we leveraged the clinical expertise of reference centres from the European Reference Network (ERN) on Genetic Tumour Risk Syndromes (GENTURIS), and real data from RTRS patients, to identify the diverse trajectories that patients may undertake and their respective clinical procedures for all PREVENTABLE RTRS. This ground-breaking approach will allow a cost-benefit estimation of RTRS prevention- and treatment-related pathways of care through a patient-centered lens. It will also provide insights into the most effective economical strategies for managing RTRS that are based on real data, rather than predicted economical modules, to ensure optimal outcomes for individuals affected by these syndromes. An IT tool to facilitate the clinical data collection and integration was also developed and is now being adapted for each PREVENTABLE RTRS. This tool embodies a technological advancement with potential to be extended to other diseases and contribute to optimize the flow of information, ensuring the interoperability across different healthcare settings. Several outreach materials, including RTRS educational videos, were also produced to inform about the project and raise awareness for RTRS. Furthermore, to ensure that stakeholders are informed and involved in decision-making processes, an European stakeholder map was generated and relevant stakeholders including patients, healthcare professionals and managers and policymakers, were mapped and engaged in project activities. These include (but are not limited to) surveys for the behavioural analysis of the factors that influence the choice of RTRS care pathways by patients and clinical teams, as well as “PreventTalks” specifically designed to bridge the gap between science and policy.
During the second reporting period, we expect to develop and validate a model to compute the differences in outcomes and health costs of primary/secondary prevention measures and/or treatment in RTRS patients, develop guidelines for communication of prevention-related care pathways between the actors involved (clinical teams, patients), and maximise the outreach and social impact of the project outcomes. This will require follow-up research and implementation of an effective communication and dissemination strategy.
During the second reporting period, we expect to develop and validate a model to compute the differences in outcomes and health costs of primary/secondary prevention measures and/or treatment in RTRS patients, develop guidelines for communication of prevention-related care pathways between the actors involved (clinical teams, patients), and maximise the outreach and social impact of the project outcomes. This will require follow-up research and implementation of an effective communication and dissemination strategy.