An offshoot of the Clinical Bioinformatics Summit held last year in Boston, the CLARITY Challenge is a contest initiated by Children’s Hospital Boston. The Challenge is designed to help advance standards for genomic analysis and interpretation in order to accelerate the use of genomic information to guide patient care.

The Challenge is led by a multidisciplinary team of world-class clinical researchers and bioinformatics specialists from Children’s Hospital Boston and Harvard Medical School.

Through the competition, academic and commercial researchers from around the world will compete to discover the unknown genetic basis of the disorders faced by three pediatric patients by using whole genome (and/or exome) sequencing and delivering information that is understandable to physicians and, ultimately, useful for guiding patient care.

The Manton Center for Orphan Disease Research at Children’s Hospital Boston has identified three families with clinical manifestations and pedigrees that suggest a genetic basis for their disorders. The genomes of all three families (children and parents) will be sequenced (whole genome and/or exome) and provide the starting point of the Challenge, where participants – working either independently or on teams – will be tasked with working toward an analysis, interpretation, and report suitable for use in a clinical situation.

The Institutional Review Board (IRB) at Children’s Hospital Boston has approved a protocol for the Challenge through which competitors will be able to access the de-identified materials of the three families.