New CLARITY Challenge Open to Entries, to Tackle Undiagnosed Diseases

May 21, 2015 | The CLARITY challenge is back, and calling for entries.

Boston Children’s Hospital is launching the second iteration of the challenge—CLARITY Undiagnosed—focusing on identifying molecular diagnoses for five families with as-yet undiagnosed conditions. Teams have until June 11 to register, and will compete for a $25,000 award sponsored by longtime Boston Children’s Hospital donor Rob Hale, CEO of Granite Telecommunications, his wife Karen, and their family.

Five patients and their families are participating as subjects in CLARITY Undiagnosed. Competing teams will receive whole genome sequences of the consented family members—mostly trios, though one patient doesn’t have living parents and another case involves multiple affected family members, so there will be more than 3 genomes.

Whole genome sequencing will be done on the Illumina HiSeq 2000 platform and donated to the competition by a third party. Medical records have been collected and de-identified. Clinical summaries will be reviewed by domain experts to make sure that all needed medical details are present.

“We would like to think that a doctor making a decision about a patient has not only the whole genome sequence, but would have all the relevant clinical data available for that patient. As we all know, that is the exception rather than the rule. A lot of data is locked away in a variety of different proprietary systems,” said Isaac Kohane, CLARITY co-organizer, professor of pediatrics at Boston Children’s Hospital and inaugural chair of the Department of Biomedical Informatics (DBMI) at Harvard. “In this instance we’re modeling what should happen and what will happen in the future.”

Read more at Clinical Informatics News.