Optimising rare tumour risk syndromes care: clinical insights and the PREVENTABLE socioeconomic framework

Le résumé fourni par la source

Rare tumour risk syndromes (RTRS) are heritable conditions caused by known genetic defects, affecting 5 per 10,000 people or less, that confer a high lifetime risk of multiple, often early-onset cancers [ 1 , 2 ]. Despite providing a tangible context for cancer prevention or early detection through intensive surveillance and prophylactic strategies [ 3 ], many healthcare systems opt for treatment of clinically expressed cancer, even when a positive genetic diagnosis is available [ 4 ]. Although national and international guidelines exist for carriers of RTRS-predisposing pathogenic variants (see glossary in Supplementary Information) [ 5 ], their impact on health outcomes and healthcare spending has not been systematically quantified [ 6 , 7 ]. This gap reflects limited implementation of guideline-based care, lack of research on clinical outcomes, and lack of real-world cost-effectiveness evidence [ 3 , 8 ].

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.