Corrie Painter, PhD, is an angiosarcoma cancer survivor who has been a longtime member of the Facebook support group “AngioSarcoma Cancer,” in which patients and family members share everything from details of their treatments to nutritional advice to inspirational quotes. Yet as associate director of the Count Me in Project at the Broad Institute of the Massachusetts Institute of Technology (MIT) and Harvard University in Cambridge, Massachusetts, Dr Painter realized the group could be a perfect place to spread the word about a new research project seeking to gather patients’ genomic data.

When she posted a query a couple years ago asking if patients would be willing to contribute medical records and tissue samples to an upcoming study, she was thrilled when it received 91 likes in an hour. “This is a testament to the power of an organized patient group,” said Dr Painter. “It told me that patients are motivated to make a positive impact on the knowledge base of our disease.”

So began a project that within 18 months had led to the enrollment of 338 angiosarcoma patients with a participation rate that’s almost unheard of for research involving rare cancers. (It now has 505 participants.) The findings have identified 3 genetic mutations as well as a subset of patients who might benefit from immune checkpoint inhibitors.

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In fact, the project, published in February 2020 in Nature Medicine, has emerged as an instructive case study.1 The Broad’s angiosarcoma project is just 1 focus area of Count Me In’s initiative to gather sequencing data for 6 kinds of cancer, but it’s an especially valuable contribution to the collective research for a rare cancer, said Gary Schwartz, MD, chief of hematology and oncology at NewYork-Presbyterian/Columbia University Irving Medical Center in New York City. “This was a major voluntary effort from patients. By pooling results together, we can find critical discoveries that characterize a particular kind of cancer,” he said. “This kind of research has never been done on this scale before with this level of sequencing.”

Dr Painter attributed the project’s success to her team’s effort to engage patients directly. For example, she formed a working group to incorporate their feedback on the best outreach strategy for the Facebook group, which brought in 40% of participants.

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Members of the working group agreed to 1 recruitment post every other week that would be written by different people sharing their reasons for wanting more research. “We built it with patients so they became stakeholders. It was as much their project as it was ours,” said Dr Painter. Her team also announced the project at major conferences and asked doctors to tell patients. “Everyone kind of rallied,” she added. 

The team tried to make it as easy as possible for patients to participate. For example, they built an online portal to enable patients in the United States and Canada to fill out their medical history and sign consent forms. Patients were sent blood and saliva collection kits, which they could return through the mail. For those who agreed to contribute tissue samples, which had been preserved following previous surgeries, Broad dedicated a staffer to follow up directly with their medical centers. “Oftentimes those samples will sit on a shelf until they get destroyed, so we have a clinical research coordinator request samples that patients might have available,” she said. The team received back 83 total tissue samples that underwent whole-exome sequencing. The results of 47 were included in the Nature paper, and 36 more will be released in the future.