Extracting Clinical Value from Next Gen Sequencing

It has become cliché in the clinical environment, and genetic sequencing realm, that there is a glut of sequence data.  The conundrum is how to translate or transform the overabundance of data into clinically useful knowledge. This situation has only grown more acute since the introduction of next gen sequencing.


To arrive at the clinical knowledge, there needs to be a concentric series of integrated capabilities, and the necessary capacity. The core is of course the sequencing process itself, the IT tools to process it, and the human expertise. However, the essentials in the first two aspects, sequencing and IT, need to exist, and thereby create opportunities for organizations.

As there are numerable subtleties even within the essential capabilities, a single organization may not be able to develop all under one roof. Nor may certain abilities yet exist sufficiently. However, a complete ecosystem at best, or promising potential at worst, is still required.

Examples not only include new instrumentation, algorithms and software, but key clinical fields, particularly cancer. In the past few years, dozens of new clinical, genetic or genomics tests have and are being implemented. Perhaps curiously, the demand here is still for upstream diagnostic and screening assays, rather than downstream prognosis and monitoring. The exception here is the field related to treatment planning founded on the molecular basis of the disease.

This attached presentation illustrates the high-level transformation frameworks for this, the subsequent translation of data to be clinically useful, and oncology focus..

Extracting Clinical Value from Next Gen Sequencing

For reference and some additional data, this infographic is also attached.

Next Gen Sequencing Translation to Clinic

© 2013 Winton Gibbons

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