Case Study: Taking Control of Operational Genomics

July 2, 2015
Case Study: Taking Control of Operational Genomics
A new generation of information technology is required to move next-generation sequencing from academic discussion to diagnostic use. [© Mehmet Pinarci (]

Rodrigo Barnes

I’ve been involved in lots of discussions about the future lately. Particularly the future of medicine, the future of data science, and how these topics merge around the potential for genomics to contribute to clinical care. It has long been anticipated, but that translation from science to treatment isn’t quite there yet.

Next-generation sequencing (NGS), particularly whole genome or whole gene sequencing, is poised to impact clinical services beyond research projects and clinical trials. Clear applications exist in rare disease diagnosis and cancer treatment decision support, as well as in stratification of treatment in other disease areas. The problem that exists now is that genomics is still largely used and discussed by academia, and not intended for diagnostic use. We understand the applications, but we still need to make the leap from experimental to mainstream; to demonstrate how and why genomics is the future of medicine.

To do this, healthcare providers need to take control of the operation of genomics, to drive quality upwards and encourage new applications of genomic sequencing in new disease areas.

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