Engaging Patients as Partners in Making Data More Inclusive

“It was a vulnerable, dark moment in my life. How is this anyone’s reality?” That’s how Dr. Corrie Painter felt when diagnosed with angiosarcoma, a rare cancer that forms tumors in the lining of blood vessels. She was 36 with two young children, and as a scientist working on her Ph.D. in biochemistry, she immediately looked into existing research but found little available.

“I was diagnosed in 2010 by someone who had no idea what to do with me, and my data wasn’t being collected to help anyone else,” she said, adding that making data inclusive of as many patients as possible helps show patterns to improve knowledge and treatments. Wanting to harness data this way led her to work at Count Me In (CMI), a nonprofit partnering with patients who choose to share their tumor samples, medical history, and experiences. CMI makes this data available to scientists through repositories like the Genomic Data Commons, part of NCI’s Cancer Research Data Commons.

As CMI’s associate director, Corrie fosters open data and collaboration for a number of understudied cancers. She also stresses the need to include communities traditionally left behind by medical research. “We have a lot of work to do, and it’s incumbent on us inside research to figure out how to build trust in [underrepresented] communities,” she said, adding that some groups haven’t even been asked to participate.

“The goal is to leverage these data to make good on the promise of precision medicine for everyone,” Corrie said. For its Angiosarcoma Project alone (launched in 2017), CMI data uncovered genes associated with the cancer and opened the door to possible new therapies. Corrie, now 11 years postdiagnosis, is cautiously excited. “The work isn’t done, but I’m hopeful that we reach a day when someone who is told they have cancer will have less anxiety because they know it can be dealt with.”

Using the Power of Data against Colorectal Cancer

Case in point: until recently, colorectal cancer (CRC) guidelines advised that screenings begin at 50, to catch cases early and save lives. But Rebecca, a scientific director at the American Cancer Society, looked at data from 1995–2016 in NCI’s Surveillance, Epidemiology, and End Results Program and other similar registries and saw an increase in the number of people under 50 being diagnosed with CRC. The median age at diagnosis had also dropped, from 72 in 2002 to 66 in 2016. Based on the trends, Rebecca anticipated the median age to be even lower for 2020. She estimated that 18,000 people—12% of all CRC patients—would be diagnosed under 50, with half between ages 45 and 49.

“The consensus [in the research community] now is to begin screening at 45 instead of 50,” said Rebecca, whose analysis changed national screening guidelines. But we shouldn’t stop there. While more research is needed to determine why cases are going up in younger groups, she stressed that there are opportunities “for prevention and early detection, primarily through screening but also behavior changes.” Encouraging healthier lifestyles in younger people and increasing risk awareness in patients and providers to help prevent delayed diagnoses are some tactics to implement now.

Lowering the CRC screening age from 50 to 45 “will save countless lives over the long term,” and it’s thanks to the tracking and analysis of surveillance data that we have this chance to help improve prevention and diagnosis.

Harnessing Data to Drive Progress in Childhood Cancers

“Just think if I had a patient with a rare tumor and could access data from the other 30 or so patients out there with the same tumor,” said Dr. Brigitte Widemann, “I could learn more about the course of the disease and make better treatment recommendations.” This is true for all cancers, but Brigitte believes that it could be especially helpful in childhood cancers.

However, childhood cancer data is often only stored at the institution where a child is treated. “We don’t yet have a meaningful mechanism to share the wealth of data, which can include tumor and blood samples as well as genomic sequencing,” said Brigitte.

To develop ways to connect and share these data with the research community, NCI started the Childhood Cancer Data Initiative (CCDI). “Building on the success of projects like The Cancer Genome Atlas (“TCGA”—a landmark program that cataloged genetic mutations responsible for cancer), and the Therapeutically Applicable Research to Generate Effective Treatments program (“TARGET”—an NCI initiative to understand childhood cancer at the molecular level), NCI launched CCDI in 2020 to learn from every child with cancer in the United States,” said Dr. Louis Staudt, director of NCI’s Center for Cancer Genomics. “Capturing and sharing this data will be instrumental in deepening our understanding of these unfortunate diseases.”

Brigitte, who is chief of NCI’s Pediatric Oncology Branch, points out that patients and families often want to contribute data to help research progress. “I’d say most patients are eager to share,” she said. One patient recently asked her when his next tumor biopsy would be, so that he could contribute his samples. “When I told him that he didn’t need more biopsies, he said, ‘Well, if you ever want to learn more, just tell me.’”

The idea of learning from every child and having every child benefit really resonates with Brigitte. At the end of the day, she said, it’s not just about “taking data and advancing research, but also making sure it all goes back to improvements for patients.”

Accelerating Progress with the Power of Data was originally published by the National Cancer Institute.