The CLARITY Challenge: Childrens Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information. C. A. Brownstein1,4, E. T. DeChene3, K. C. Flannery2, S. W. Kong2, M. C. Connolly3, I. S. Kohane1,2, A. H. Beggs3,4, D. M. Margulies1,4 1) Division of Genetics and Program in Genomics, Gene Partnership, Boston Children's Hospital, Boston, MA; 2) Harvard Medical School Center for Biomedical Informatics and Children's Hospital Informatics Program, Boston, MA; 3) Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; 4) Harvard Medical School, Boston, MA.
Introduction: Despite rapid progress in the speed and performance of next- generation sequencing, there has not been a dramatic advancement in the application of sequencings insights to everyday patient care. Before personalized genomic medicine can be adopted at scale, several hurdles must be addressed: 1. Conflicting gene variant annotations and classifications in non-standardized databases 2. Inconsistent or non-specific sequencing results and non-interoperable processes 3. Lack of standards concerning individual privacy and data access 4. Results that are not clear or useful to doctors, genetic counselors and patients. The Boston Childrens Hospital CLARITY competition is a step forward in creating standardized methods for analyzing, interpreting, reporting and, using genomic information in a clinical setting. Methods: Three families identified by The Manton Center for Orphan Disease Research at Boston Children's have clinical manifestations and pedigrees that suggest a genetic basis for their disorders. Two families have probands with a neuromuscular condition, and the third family has a proband with an autosomal dominant cardiac condition. The genomes and/or exomes of the family members were sequenced and provide the starting point of the Challenge. Participants are tasked with producing an analysis, interpretation, and report suitable for use in a clinical situation. Competitors will be evaluated on 1) the methods by which they analyze and interpret the genome sequences and 2) the ability of the competitors to synthesize the genomic data and produce clinically meaningful reports with actionable results for participants physicians. The judges are a diverse group of well-respected individuals from the medical and technology industries. Results: 40 teams from academic and commercial entities submitted applications. 33 teams were selected to participate in the challenge. 29 teams signed the participant agreement and accessed the data. Two teams decided not to sign the participant agreement and withdrew from the competition. Contest entries are due in September, and the winner will be announced at the 2012 ASHG annual meeting. Discussion: The CLARITY contest is an international competition to identify and publicize the best practices in clinical genome interpretation and data delivery. Bringing together the best elements of competing pipelines will allow for the development of clear, consistent methods for applying genomic insights to patient care.
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