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The use of genome-wide profiling technologies in basic and translational research is on the rise in the clinical setting. However, several potent informatics barriers must be overcome before clinical sequencing can become routine. Good Laboratory Practice-based quality-assurance metrics must be established to guarantee the accuracy required to make medical decisions. Genetic variants identified by sequencing must be systematically annotated and interpreted so that a clinical genomicist can decide which are medically actionable. Software applications and technologies are required to facilitate reporting of genomic results and to transmit these data to electronic health records. To address these issues, we have developed the Clinical Genomicist Workstation, which provides a “soup-to-nuts” solution for processing clinical sequencing orders. Session details ... |
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