It’s got to be quite a competition when the winner can boast solving a family’s medical mystery, but those are the bragging rights the clinical genetics division at Brigham and Women’s Hospital captured when it won Boston Children’s Hospital’s first CLARITY contest (short for Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information).
In January, the Children’s Hospital put out the call for submissions, asking participants to help determine the unknown genetic root cause of illness in three children. The teams could sequence the genomes of the children and their parents, and were tasked with interpreting the information. The ultimate aim of the competition was to shed light on how data from whole genome sequences can be made most useful in a clinical setting (see ‘Genomics contest underscores challenges of personalized medicine‘).
There was a “real question of whether these technologies are ready for prime-time clinical applications,” says Isaac Kohane, an endocrinologist at Children’s Hospital. “What these teams have demonstrated is that going from end to end—from a genome sequence to a clinical readable report—can be turned into a routine process.”
Of the 23 teams submitting entries, three were able to identify both mutations in the titin and GJB2 genes that, respectively, explained the muscle weakness and hearing impairment afflicting one of the youngsters, a sixth grader. The Brigham and Women’s team provided the most insight on these points, winning the $15,000 top prize. Meanwhile, a team from University of Iowa in Iowa City was awarded $5,000 as a finalist for their approach to communicating unexpected genetic results, which they based on patient preferences. A German team (with representatives from the gene sequencing companies Genomatix and CeGaT, as well as the Institute of Pathology at the University of Bonn) also received $5,000 as a finalist for flagging all likely genetic mutations in the three cases.
The Children’s Hospital team behind the contest plans to publish a paper comparing and contrasting the various approaches taken by the entrants in the contest, according to Kohane. The hope is that this information from the contest will help inform procedures in the gene sequencing field. They’re also planning a second challenge, focused on cancer genomes, to carry on their efforts of helping understand how to process the large data sets and communicate the information to patients.
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