Abstract SY16-02: Clinical whole exome interpretation for precision cancer medicine

Abstract

Abstract Translating whole exome sequencing (WES) for prospective clinical use may impact the care of cancer patients. However, since this approach greatly expands the quantity of genomic data generated for an individual patient, multiple innovations are necessary for clinical implementation. These include clinical analysis and interpretation of large scale WES data, effective representation of WES data in a clinical environment for physician consumption, and development of knowledge-sharing platforms to ensure effective curation of clinically relevant variants. Here, we describe heuristic methods for the clinical interpretation of WES data. We also discuss approaches that may facilitate physician understanding of WES data in a clinical setting. Finally, we review existing knowledge bases and emerging mechanisms for crowdsourcing variant curation that may enable prospective WES-scale genomic profiling. Overall, this methodology may inform the widespread implementation of precision cancer medicine. Citation Format: Eliezer M. Van Allen. Clinical whole exome interpretation for precision cancer medicine. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr SY16-02. doi:10.1158/1538-7445.AM2015-SY16-02