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Whole Genome Sequencing in Diagnostics?

Using whole genome sequencing in diagnostics has been an issue for years, and as the cost of sequencing is rapidly declining, it seems it can pave the way for personalized medicine. A new research published in Genome Biology, Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors, just proves this point:

Adenocarcinomas of the tongue are rare and represent the minority (20 to 25%) of salivary gland tumors affecting the tongue. We investigated the utility of massively parallel sequencing to characterize an adenocarcinoma of the tongue, before and after treatment.

We conclude that complete genomic characterization of a rare tumor has the potential to aid in clinical decision making and identifying therapeutic approaches where no established treatment protocols exist. These results also provide direct in vivo genomic evidence for mutational evolution within a tumor under drug selection and potential mechanisms of drug resistance accrual.

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