Next-generation sequencing (NGS) has been making tremendous strides in the research market and with Illumina’s recent launch of the HiSeq X Ten, we’ve essentially reached the $1,000 genome (notwithstanding quibbles over what exactly should be accounted for in the $1,000). With these advancements, the pull to adapt NGS for the clinical market has gotten stronger. The first examples of how this technology will transform medicine are already showing up.
The press has been filled with stories, sometimes heart-warming and sometimes gut wrenching, of NGS being used in the diagnosis of late-stage cancers and rare childhood diseases. But while these examples show how NGS can be used to treat patients, they aren’t really examples of clinical sequencing. These are still research projects, each one requiring the attention of multiple experts poring over the data to come up with hypotheses of how to treat the underlying malady. In order for NGS to be considered a true clinical tool, it will have to be used on a routine basis, replacing older genetic-based tests. This transition is starting to happen for prenatal testing and cancer diagnostics.
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