Translational Genomics Initiative: Interpretation of Genomic Variation for Clinical Diagnosis

One of the major problems facing clinical implementation of next -generating sequencing is the gap between the capacity to generate sequence data and our ability to accurately interpret it. Traditionally, genetic diagnosis was offered to a small group of patients in whom a Mendelian disorder was strongly suspected. Testing for more genetically heterogeneous conditions was not feasible in terms of cost and time. NGS has transformed this situation but in so doing as created several new challenges. The aim of this retreat was to establish guidelines for clinical diagnosis that identify and attempt to categorise and quantify some of these parameters in order to optimise the diagnostic opportunity afforded by WES/WGS whilst minimising the risk of misdiagnosis.

Scientific programme committee