On September 8, Boston Children’s Hospital announced the launch of the CLARITY Undiagnosed competition. Through the $25,000 competition, 26 registered teams from around the world will work on interpreting DNA sequences to solve the medical “mysteries” of five patients with undiagnosed conditions. All contestants received raw DNA sequence data (whole-genome and whole-exome sequences) together with de-identified clinical data from the patients and their immediate relatives. Participants will be judged by an independent panel on their ability to provide clinically useful, actionable reports.
“There are more than 7,000 rare or ‘orphan’ diseases, so it’s quite common for a patient’s physician to have never seen a similar case,” says Alan Beggs, PhD, co-organizer of CLARITY Undiagnosed and director of the hospital’s Manton Center for Orphan Disease Research. “Families can go for years without a diagnosis, feeling isolation and sometimes despair. The promise of discovering the genetic basis for their condition allows patients to form communities and physicians to provide accurate prognostic predictions, genetic counseling and appropriate targeted therapies.”
The patients were identified through the producers of a forthcoming documentary film, Undiagnosed, which will chronicle the competing teams’ efforts with the teams’ permission. The patients and families will remain anonymous for the duration of the challenge.
