Chapter 20 – Somatic Diseases (Cancer): Whole Exome and Whole Genome Sequencing

Exome and genome sequencing are often applied to the study of cancer as a discovery tool in the investigative setting. Because of limitations related to result interpretation and technical factors like depth of coverage and sensitivity, these broad approaches have not been widely adopted in clinical cancer testing. In this chapter, issues related to variant interpretation in clinical cancer testing will be addressed. Specifically, the limited utility of sequencing genes without established clinical significance will be discussed. The advantages and limitations of exome and genome sequencing in cancer from a technical perspective, including depth of coverage and variant detection, also will be considered.