From months 1-36, matrices mapping patient trajectories and clinical procedures were developed for all PREVENTABLE Rare Tumour Risk Syndromes (RTRS): Birt-Hogg-Dubé Syndrome (BHDS), Familial Melanoma (FM), Gastrointestinal Stromal Tumours Syndrome (GIST), Hereditary Diffuse Gastric Cancer (HDGC), Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC), Li-Fraumeni Syndrome (LFS), PTEN Hamartoma Tumour Syndrome (PHTS), and Peutz-Jeghers Syndrome (PJS). In addition, healthcare costs/prices for each clinical procedure were identified. The information was used to develop RTRS-specific interfaces for an IT tool (PREVENT-IT) that allows systematic collection of real-world clinical data and indexes country-specific costs/prices to clinical procedures. Data from >2,500 individuals (59% variant carriers) were collected and analysed to compare overall survival, timing of interventions, and costs of prevention vs treatment care pathways. Across all RTRS, clinical outcomes improved when early cancer was detected during surveillance. For HDGC, LFS and HLRCC patients it also improved in prevention vs. treatment pathways. From a financial perspective, treatment pathways consistently incurred substantially greater costs per patient, driven largely by a small number of high-cost interventions A modelling framework integrating project and literature data was developed to assess prevention cost-effectiveness. It was already applied to HDGC and is ongoing for other RTRS.
In parallel, behavioural determinants influencing care uptake and clinical recommendations were identified through a mixed‑methods approach combining questionnaires and focus groups with healthcare professionals, patients and their social networks. These insights are informing the development of person‑centred guidelines for communicating preventive RTRS care pathways. A PREVENTABLE European stakeholder database was also created, and the strengths (S), weaknesses (W), opportunities (O) and threats (T) of RTRS care pathways at policy and health‑system levels were mapped, complemented by a “3 Case Study” approach across three countries with different healthcare systems.
Additionally, over 50 educational and audiovisual outreach materials were produced. Three “PrevenTalk” events fostered interdisciplinary collaboration, alongside two thematic webinars on sustainable healthcare financing and psychosocial support for RTRS families.
