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Patient-Driven Platform Offers Real-World Insights Into Cholangiocarcinoma


On the first day of the Cholangiocarcinoma Foundation Annual Meeting, Elli Brimble, MS, MSc, Ciitizen’s head of Clinical Operations, offered insights from an ongoing study based on data provided by patients.

Ciitizen started with a promise. Anil Sethi, then Apple’s director of Health Records, had lost his younger sister, Tania, to breast cancer. It was only after her death that he realized that none of the 23 specialists involved in her care had all her health data, so none had the full picture that could have allowed her to live longer.

Sethi had to do something. So, he left Apple and created Ciitizen to put patients in charge of their data. The platform allows each person with cancer to create an account that collects and stores medical records for individual use, while using machine learning and natural language processing to create data sets for research.

Partnerships are essential to Ciitizen—the relationships with groups such as the Cholangiocarcinoma Foundation, Morehouse School of Medicine, and the Male Breast Cancer Coalition allow the platform to reach patients with rare and understudied cancers, as well as groups who are not well-represented in clinical trials.

On the first day of the Cholangiocarcinoma Foundation Annual Meeting, Elli Brimble, MS, MSc, Ciitizen’s head of Clinical Operations, offered insights from Map It Forward, an ongoing study based on data provided by patients with cholangiocarcinoma. Brimble first explained the basics of Ciitzen’s disease-based data and then outlined the study.

“Our primary objective is to describe and characterize real-world patterns of oncogenomic testing in cholangiocarcinoma,” she said. Ciitizens maintains patient data extracted from medical records, and users can consent to have deidentified records used for research, Brimble said.

At the time of the analysis, Ciitizen had completed data extraction for 153 participants, of which 133 have consented to participate in research. “So, this shows that we have a very highly engaged community dedicated to research,” Brimble said.

Then, Ciitizen creates profiles on each participant that allows the research to identify which ones have no information on oncogenomic testing. These patients are surveyed to clarify whether they in fact, have not been tested or if the tests have been missed. Response rates were 37%.

Of this group, a subset confirmed they had not been tested, and there were 8 others for whom Ciitizen was able to make new records requests. Thus, of the 133, there were 94 who had some oncogenomic testing.

Brimble then shared a series of slides showing data about the age of those tested—an average of 60.7 years, but clustering around 51 to 70 years.

“And we see that more than half of our participants were diagnosed recently, within the past two years,” she said. “This we know is consistent with the high degree of morbidity and mortality,” associated with the disease. Data showed nearly three-fourths were already at an advanced or metastatic stage when diagnosed.

Next, Brimble shared the types of tests used, noting that 7.5% had germline testing only, while 69% had somatic testing. “Only about a quarter of participants had both germline and somatic testing,” she said. “As I discussed … about 71% of participants had any oncogenomic testing at all.”

Brimble showed a graph that demonstrated there was a small, but noticeable difference, “where those individuals who receive testing were diagnosed at a younger age than those who were not.”

Of the those who had germline testing, there was a positive result for a gene associated with Lynch syndrome. She also shared a chart showing the distribution of genes identified: In the chart, here, we're looking at the most common genes where mutations were identified. “And we can see right away that we are showing similar patterns that have been previously published in the literature,” for cholangiocarcinoma,” including TP53 (25.5%), FGFR2 (16%), and IDH1 (21.3%).

Brimble presented a “heat map” showing which mutations were more likely to be present in intrahepatic vs extrahepatic cholangiocarcinoma. And the data are also being used to track biological pathways, which some testing experts believe will be used to develop new generations of therapies.

“By exploring real-world oncogenomic testing patterns, we've identified high diagnostic yields for actionable findings in our population,” Brimble said. The goal is recruit 250 to 300 individuals to develop actionable findings and evaluate disease progression, she said.

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