Personalized Cancer Diagnostics
Menée sur deux patients, l'un atteint d'un cancer colorectal métastatique, l'autre d'un mélanome malin, cette étude évalue la faisabilité et l'intérêt de la technique du séquençage à haut débit pour la prise en charge thérapeutique des patients
More than a decade into the age of molecularly targeted cancer therapeutics, most clincal laboratories, which are required to operate under standards established by the U.S. Food and Drug Administration called the Clinical Laboratory Improvement Amendments (CLIA), are still using a one gene–one test approach to molecular diagnostics. For example, such tests are routinely used to screen for mutations in the gene encoding the signaling protein KRAS in colorectal carcinomas, and in the gene encoding the epidermal growth factor receptor in non–small cell carcinomas of the lung. There is a growing need, however, for broader approaches that can identify more rare mutations (e.g., mutations in the ERBB2 and BRAF genes in lung carcinomas) that could have an impact on clinical care. Several CLIA labs have introduced multiplexed screens that cover as many as several hundred mutations across dozens of cancer genes (1, 2). But even these approaches are limited to mutation “hotspots” and, for technical reasons, necessarily favor oncogenes over tumor suppressors. Larger panels of genes based on next-generation sequencing will be introduced by a number of labs in the immediate future; even so, some are asking: Why not sequence the entire genome of each patient's tumor?
Science , commentaire, 2011