Challenge Design and History
- In 2011, the Manton Center for Orphan Disease Research at Boston Children’s Hospital selected three children with genetic disorders of unknown causes as test cases. Two of the children have muscle-weakening disorders, known as centronuclear myopathy and nemaline myopathy, and the third child (deceased) had unexplained heart defects that also affect several members of his family.
- In January 2012, academic and commercial researchers from around the world were invited to apply to compete in the Challenge.
- In April 2012, 30 applicants were selected and agreed to compete and were provided with anonymized medical information and whole-genome and whole-exome sequences, generated by contest sponsors Life Technologies Corporation and Complete Genomics, from the three children and their parents. In all, 23 contestants sent in entries, due September 30.
- The submissions were reviewed by a panel of judges, who were given prespecified criteria to evaluate:
- The methods used to analyze and interpret the genome sequences from the children and their parents
- The competitors’ ability to synthesize the genomic data and produce clinically meaningful reports with actionable results for the participants’ physicians
- Boston Children’s Hospital offered prizes totaling $25,000 to the winning research team or teams.
CLARITY grew out of Boston Children’s Hospital’s long-time commitment to improving the care of patients with complex genetic diseases. The Challenge was initially conceived at a Clinical Bioinformatics Summit held in 2010 in Boston, hosted by Harvard University, the Children’s Hospital Informatics Program, Harvard Medical School Center for Biomedical Informatics, Partners HealthCare Center for Personalized Genetic Medicine, and Harvard Medical School Center for Computational Genetics.
The Challenge protocol was approved by the Institutional Review Board (IRB) at Boston Children’s Hospital, allowing competitors access to de-identified genetic and medical information from the three participating families.