Analytical Challenges in Clinical Cancer Diagnostics by NGSMonday, 24 February 2014 at 13:30 Add to Calendar ▼2014-02-24 13:30:002014-02-24 14:30:00Europe/LondonAnalytical Challenges in Clinical Cancer Diagnostics by NGSNext Generation Sequencing: Research to Clinic in San Diego, California, USASan Diego, California, USASELECTBIOenquiries@selectbiosciences.com As the number of therapeutically-relevant cancer genes grows and biopsy size decreases, next-generation sequencing becomes increasingly attractive as a diagnostic tool for informing rationally targeted therapies. Developing an NGS-based test for use in clinical decision making poses significant analytical challenges, including the requirement to detect all classes of genomic alterations and to validate the accuracy of the assay across a wide range of possible alterations; limited amount and heterogeneity of tumor specimens; common unavailability of patient-matched normal control samples; and the need to provide molecular information in a format that can be readily interpreted by clinicians. I will discuss our approach in developing a comprehensive, pan-cancer diagnostic assay and experience analyzing over 9,000 clinical specimens in our CLIA-certified laboratory, which has demonstrated potentially actionable alterations in 80% of cases, and has led to numerous novel insights into cancer development. |