Application of next-generation sequencing in clinical oncology to advance personalized treatment of cancer

Abstract

With the development and improvement of new sequencing technology, next-generation sequencing (NGS) has been applied increasingly in cancer genomics research over the past decade. More recently, NGS has been adopted in clinical oncology to advance personalized treatment of cancer. NGS is used to identify novel and rare cancer mutations, detect familial cancer mutation carriers, and provide molecular rationale for appropriate targeted therapy. Compared to traditional sequencing, NGS holds many advantages, such as the ability to fully sequence all types of mutations for a large number of genes (hundreds to thousands) in a single test at a relatively low cost. However, significant challenges, particularly with respect to the requirement for simpler assays, more flexible throughput, shorter turnaround time, and most importantly, easier data analysis and interpretation, will have to be overcome to translate NGS to the bedside of cancer patients. Overall, continuous dedication to apply NGS in clinical oncology practice will enable us to be one step closer to personalized medicine.

Figure 1. The anticipated work flow of individualized cancer treatment based on the unique molecular prolife of a patient.

For a given patient, the normal genome and tumor genome is sequenced by using next-generation sequencing. The genetic information is analyzed, validated, and clinically interpreted by a panel of multidisciplinary experts. A personalized treatment regimen is designed based on the unique genetics of the tumor and the patient's normal genome. In addition, the patient's family may benefit from knowing the risk of hereditary cancer and taking appropriate intervention. WGS, whole genome sequencing; WES, whole exome sequencing.