{"entity":{"id":"idea-bio2-patient-partnered-rare-commons","kind":"idea","name":"Let patients themselves donate their records and samples for ultra-rare cancers","aka":[],"tldr":"Patients with ultra-rare cancers are scattered across countries, beyond any single hospital's reach. Patient-driven projects that recruit online, post saliva and tumour sample kits and release data openly have already produced genomic findings in angiosarcoma; sustainability and international consent rules are the open problems.","summary":"Patient-partnered research projects have assembled cohorts in angiosarcoma, metastatic breast cancer and other diseases by direct online recruitment, mailed sample kits, and consent for medical record retrieval and open data release. The model reaches patients that no single hospital can, and produced genomic findings in diseases previously too rare to study. Sustainability and international consent harmonisation are the open problems.","asOf":"2026-09-08","links":[{"label":"Bottleneck evidence (Rare and paediatric cancers without markets): Gatta et al., Rare cancers are not so rare: the rare cancer burden in Europe (EJC 2011)","url":"https://doi.org/10.1016/j.ejca.2011.08.008"}],"tags":[],"related":["cbioportal","genie","cancer-models"],"cancers":["sarcoma"],"sections":[],"technologies":["wes-wgs"],"targets":[],"drugs":[],"companies":[],"institutions":["broad-institute","dana-farber"],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":["b-rare-cancers","b-data-silos","b-patient-voice"],"keyPapers":["paper-gatta-eur-j-cancer"],"journals":[],"dependsOn":[],"notes":[],"hypothesis":"Patient-partnered recruitment assembles cohorts of over 200 patients in cancers with fewer than 500 annual cases per country within two years, at a cost per case below conventional biobanking.","rationale":"Direct-to-patient recruitment removes site-by-site activation, the dominant cost and delay in rare disease research. Openly released data attract analysts who would never have obtained the samples themselves.","test":"Launch one disease-specific patient-partnered project with pre-registered targets on enrolment, sample return rate, record retrieval success and time to first public data release.","maturity":"being-tested-at-scale","actor":"patients","cost":"medium","horizonYears":4},"route":"/ideas/idea-bio2-patient-partnered-rare-commons/","neighbours":{"collection":[{"id":"genie","kind":"collection","name":"AACR Project GENIE","route":"/collections/genie/"},{"id":"cancer-models","kind":"collection","name":"Cancer Models (PDCM Finder) & HCMI","route":"/collections/cancer-models/"},{"id":"cbioportal","kind":"collection","name":"cBioPortal for Cancer Genomics","route":"/collections/cbioportal/"}],"cancer":[{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}],"technology":[{"id":"wes-wgs","kind":"technology","name":"Whole-exome & whole-genome sequencing","route":"/technologies/wes-wgs/"}],"institution":[{"id":"broad-institute","kind":"institution","name":"Broad Institute of MIT and Harvard","route":"/institutions/broad-institute/"},{"id":"dana-farber","kind":"institution","name":"Dana-Farber Brigham Cancer Center","route":"/institutions/dana-farber/"}],"bottleneck":[{"id":"b-data-silos","kind":"bottleneck","name":"Data silos","route":"/bottlenecks/b-data-silos/"},{"id":"b-patient-voice","kind":"bottleneck","name":"Patients lack understanding, navigation and agency","route":"/bottlenecks/b-patient-voice/"},{"id":"b-rare-cancers","kind":"bottleneck","name":"Rare and paediatric cancers without markets","route":"/bottlenecks/b-rare-cancers/"}],"paper":[{"id":"paper-gatta-eur-j-cancer","kind":"paper","name":"Rare cancers are not so rare: the rare cancer burden in Europe","route":"/key-papers/paper-gatta-eur-j-cancer/"}]}}