ideasIdea
Let patients themselves donate their records and samples for ultra-rare cancers
For very rare cancers, patients are scattered across countries. Patient-driven projects can gather records, saliva and tumour samples by post and share the data openly.
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.
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.
What would test it
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
Who has to act
patients
Cost to try
Medium ($1M to $50M)
Years to first evidence
4
Bottlenecks it attacks
- Rare and paediatric cancers without markets · Taken together rare cancers are a fifth of all cancers, but each one alone is too small for a company to invest in.
- Data silos · Records, scans, genomes and outcomes sit in separate systems that cannot talk. Every patient's experience is lost to the next.
- Patients lack understanding, navigation and agency · Most patients cannot understand their options, find trials, or push back, so decisions are made for them.