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Researchers Turn to Facebook to Survey Rare Disease Patients for Study

CHARLOTTE, NC (GenomeWeb) – As Facebook is going through the biggest crisis in the company’s history related to the protection of its users' privacy, the platform continues to be a useful tool for researchers looking to connect with rare disease patients for their studies.

At the American College of Medical Genetics and Genomics annual meeting here yesterday, Nara Sobreira, an assistant professor of pediatrics at the Johns Hopkins University School of Medicine, described how she used the social media platform to contact patients with two rare diseases she has been studying — Ollier disease and Maffucci syndrome — to survey them for a study that also involved data from a review of the clinical literature.

Both diseases are characterized by enchondromas — benign bone tumors originating from cartilage — that start in early childhood. Surgery is the only treatment, and the genetic basis of the disorders is not completely understood. In addition to enchondromas, patients may develop a variety of malignant tumor types, such as gliomas, leukemia, and sarcomas, but the prevalence of these cancers in the two conditions has not been studied yet.

To change that, Sobreira and her team took a two-pronged approach: surveying patients that are members of Facebook groups and reviewing patient data from hundreds of published papers.

After obtaining IRB approval from their institution and being admitted to six private Facebook groups that count a total of about 300 patient families as their members, the researchers posted an announcement that described their study and contained a link to a survey with 90 questions. So far, families of 126 Ollier disease patients and 36 Maffucci syndrome patients located in 21 countries on five continents have answered the survey. Sobreira said the response rate increases each time she reposts the survey, about every other month.

In parallel, the researchers have been analyzing data from 460 publications describing a total of 162 Ollier disease patients and 199 Maffucci syndrome patients. Because they made it into the clinical literature, these cases likely represent extremes, Sobreira cautioned, so they may overestimate the actual prevalence of cancer.

Indeed, about 53 percent of the Ollier disease patients described in the literature had malignant tumors compared to only 25 percent of the Ollier disease patients surveyed. Also, 16 percent of the literature cases but only 2 percent of those surveyed had brain cancer, but this could also mean that families of patients with brain cancer just did not answer the survey, Sobreira said. For Maffucci syndrome, the comparison was more difficult because the number of survey respondents was small compared to the literature cases.

Besides data on cancer types and age at diagnosis, the survey also revealed some other interesting findings. For example, five patients said they had a family history of enchondromas, which is unusual for the diseases.

Further analysis of the survey results will provide a better picture of the two disorders, she said, and will guide her team's genome studies. So far, they have performed whole-exome sequencing for 30 patients, and the plan is to do whole-genome sequencing and other analyses in 100 patients.