Over the past decade, testing the genes of patients and their specific cancer types has become standardized
practice in medical oncology since somatic mutations, changes in gene expression and epigenetic
modifications are all hallmarks of cancer. However, while cancer genetic assessment has been limited to
single biomarkers to guide the use of therapies, improvements in nucleic acid sequencing technologies
and implementation of different genome analysis tools have enabled clinicians to detect these genomic
alterations and identify functional and disease-associated genomic variants. Next-generation sequencing
(NGS) technologies have provided clues about therapeutic targets and genomic markers for novel clinical
applications when standard therapy has failed. While Sanger sequencing, an accurate and sensitive
approach, allows for the identification of potential novel variants, it is however limited by the single
amplicon being interrogated. Similarly, quantitative and qualitative profiling of gene expression changes
also represents a challenge for the cancer field. Both RT-PCR and microarrays are efficient approaches,
but are limited to the genes present on the array or being assayed. This leaves vast swaths of the transcriptome,
including non-coding RNAs and other features, unexplored. With the advent of the ability to
collect and analyze genomic sequence data in a timely fashion and at an ever-decreasing cost, many of
these limitations have been overcome and are being incorporated into cancer research and diagnostics
giving patients and clinicians new hope for targeted and personalized treatment. Below we highlight
the various applications of next-generation sequencing in precision cancer medicine