Author(s): Harris T
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Abstract There have been several publications recently that reported DNA sequence alterations in human tumors. There are gene deletions, amplifications, point mutations, translocations, and other genome changes in these samples compared to normal controls. There is also considerable variation in the number of such changes seen in different cancers. Some of the changes particularly those that are mutations in genes driving cellular proliferation will be useful clinically and could be used to monitor disease. At the present time, however, there are more cost effective ways than whole genome sequencing to derive "clinically actionable information" from the molecular analysis of patients and their tumors when they come into the clinic. The number of clinical options available for patients stratified by molecular diagnostics may actually be limited more by the specific treatments available rather than by the ability to stratify the patients in the first place.
This article was published in Discov Med
and referenced in Journal of Health & Medical Informatics