Contest to interpret genomes of child patients underway

31 August 2012

A competition to interpret the genomes of three child patients has attracted entries from 30 teams around the world.

The CLARITY Challenge asks entrants to analyse the genomes of three children who are current patients of the Boston Children’s Hospital. The teams have been provided with raw genome sequence data and medical records from the children and their immediate relatives. Two of the patients have undiagnosed neuromuscular diseases, and the other a cardiovascular disorder. No existing genetic diagnostic tests have been able to identify their conditions.

The goal of the contest is not just to provide conclusive diagnoses for these three patients and their families, but also to identify the best methods and practice guidelines to reliably and accurately apply genomics diagnostics within the clinic.

Dr Isaac Kohane, Director of Informatics at the hospital said that the number of entrants had far exceeded expectations and that this demonstrated “there’s a huge hunger for real data and real cases”. He said that entries will be judged not just on their final report, but also on their supporting data, and the interpretation and rationale behind it, with a convincing diagnosis being the “cherry on top”. The winning research team will receive a prize of $25,000. The contest is now closed to new entrants and results will be announced in November.