Children's Hospital Boston is sponsoring a competition to spur development of methods for clinical interpretation of genomic data, and plans to award $25,000 to the winning team.
The Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information, or CLARITY, competition was designed to help set standards for genomic analysis and interpretation in a clinical setting and for returning actionable results to clinicians and patients.
Participants will be provided with de-identified summaries and whole-genome and/or exome sequences generated by Complete Genomics and Life Technologies for three children and their families. Each child has a rare disease with an unknown genetic basis.
Academic and commercial researchers worldwide can apply for participation by March 1, and no more than 20 teams will be selected. The competition will officially begin in April and last for around four months. A winner will be announced in October.
The judge panel will include: Elaine Lyon from Arup Laboratories, Joseph Majzoub from Children's Hospital Boston, Peter Neupert of Microsoft Health Solutions, David McCallie from Cerner Medical Informatics Institute, Russ Altman of Stanford University, Peter Szolovits from the Massachusetts Institute of Technology, and Huntington Willard from Duke.
The teams will be judged on their methods for analyzing the data and identifying the disease-causing mutations related to the patients' phenotypes, as well as their method for returning results to the clinicians.
Due to the rapid decline in the cost of sequencing, the technology is increasingly being used in the clinic, but "paramount among the obstacles to true genomic medicine are interpretation and communication," Isaac Kohane, director of Children's Hospital Boston's informatics program, said in a statement.