GeneInsight’s Clinical Interpretation and Reporting Solution Used as the Model for the Winning Team of Boston Children’s Hospital International Genomics Competition
Nov 7, 2012
A first-of‐its‐kind international contest organized by Boston Children’s Hospital, known as CLARITY, solves at least one family’s genetic mystery while taking the first steps toward establishing “best practices” for using genomic sequencing in patient care safely, responsibly and in a meaningful way. The contest winner, a multi‐institution team led by the Brigham and Women’s Hospital Division of Genetics (Boston, Mass.), was one of 23 research groups competing to provide the best interpretation and communication of DNA sequencing results. The team was judged to have the best combination of cutting‐edge bioinformatic analysis, clarity and utility of its clinical reports for the three families, and appropriate identification of the families’ likely genetic defects. Reports generated through GeneInsight were utilized as the model for the winning team.