Breaking Bad Barriers: Overcoming challenges in Rare Cancer Research and Innovation

Despite rare cancers accounting for 25% of adult tumors, they are difficult to study due to the low disease incidence and geographically dispersed patient populations, which has resulted in significant unmet clinical needs for patients with rare cancers. The Broad Institute of MIT and Harvard launched a series of genomics initiative the leveraged partnerships directly with patients to generate and open-source clinic-genomics data at scale, called Count Me In (CMI). We assessed whether this patient-partnered research approach using online engagement can overcome these challenges, focusing on angiosarcoma, a sarcoma with an annual incidence of 300 cases in the United States. We describe the development of the Angiosarcoma Project (ASCproject), an initiative enabling US and Canadian patients to remotely share their clinical information and biospecimens for research. This patient-partnered approach has catalyzed an opportunity to discover the etiology and potential therapies for patients with angiosarcoma. Collectively, this proof-of-concept study demonstrates that empowering patients to directly participate in research can overcome barriers in rare diseases and can enable discoveries.