Clinical Genomics Update: Beyond ACGT

January 4, 2016
Clinical Genomics Update: Beyond ACGT
Source: iStock/Ciripasca

Stephen C. Peiper, M.D., and Zi-Xuan Wang, Ph.D.

A vast “technocopia” of powerful tools is available to be employed in the clinical arena following the evolution from forme fruste to research tools. This armamentarium promises to revolutionize the diagnosis and treatment of patients with catastrophic diseases. The emergence of next-generation sequencing (NGS) as a diagnostic technology has opened the door to examining malignant, infectious, and inherited diseases with the highest power of resolution, at the level of individual genetics.

“Since we have no choice but to be swept along by [this] vast technological surge, we might as well learn to surf.” —Michael Soule

Consequently, the application of personalized/precision medicine enabled by NGS to develop genomic classifications in oncology has been fueled with the zeal of the newly converted. One of the primary considerations in the creation of NGS panels has been the number of genes to be interrogated. With an ever-enlarging pipeline of targeted agents, panels have grown to include over 400 genes, although many of the genes sequenced are not actionable molecular targets.

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