Studies identify room for improvement in tumor genome analysis

Two studies published Wednesday in Science Translational Medicine suggest precision medicine based on sequencing of tumor genomes could benefit from deeper analyses to confirm which mutations are actionable drivers of tumor growth before selecting treatments. The studies concluded mutations not critical to a tumor's growth could be ruled out if normal tissue from the same patient were sequenced and if tumor cell subpopulations were analyzed carefully.

Researchers at Personal Genome Diagnostics Inc. and The Johns Hopkins University School of Medicine sequenced genomes from normal and tumor tissue from 815 cancer patients. They concluded that after filtering out common germline variants, as many as a third of the mutations identified in tumor sequencing studies have a germline origin and are not actionable drivers of tumor growth. To improve the accuracy of targeting appropriate therapies, the team recommended that additional genome sequencing from the patient's normal tissue be included in each personalized tumor genome analysis, but acknowledged that the process would be more costly. ...