November 18, 2015 | Results are in for the CLARITY Undiagnosed challenge, a crowdsourced competition sponsored by the Manton Center for Orphan Disease Research at Boston Children's and the Department of Biomedical Informatics (DBMI) at Harvard Medical School.

The competition launched in May, and was open to any teams willing to interpret DNA sequence data and medical information to identify molecular diagnoses for five families with as-yet undiagnosed conditions, and return clinically-useful reports to doctors and families.

Nationwide Children's Hospital (Columbus, Ohio), was named the winner and awarded a $25,000 prize. Invitae Corporation (San Francisco) and Wuxi NextCODE Genomics (Cambridge, Mass.) were named runners-up. Twenty-six teams from seven countries registered to participate; 21 teams submitted reports.

The organizers hoped to get 30 entries, said Alan Beggs, co-organizer of the Challenge and director of Boston Children's Manton Center, and ended up with 26 registered teams and 21 completed entries.

Beggs considers that a success. “The five patients and families who were the subject of this were really the toughest of the tough cases. Several of them have rather atypical, unknown medical conditions. Some of them have had prior genetic testing of various sorts, including in one case exome sequencing,” he said.

No “smoking gun mutations” were revealed, Beggs said, but several of the patients received details on “interesting candidates,” that warrant further study.

While the CLARITY organizers are still processing the details of the competition, Beggs already sees some surprises and best practices.

“Our conclusion last time was that the informatics aspects of this were starting to converge,” he said. But CLARITY 2 exposed disparity in the ways variants are translated into medical findings, especially in particularly challenging cases.

For more on the winners and the competition’s findings see the full story at Diagnostics World.