Genomic Technology/Next-Generation Sequencing

While ge ne tic testing typically refers to the study of single genes and their role in the way traits or conditions are passed from one generation to the next, genomic analyses can include both coding and noncoding segments of DNA and involve both heritable alterations in DNA (ie, germline alterations) as well as changes in somatic alterations resulting from clonal expansions of cancer cells in tumor. In this primer, an emphasis is placed on somatic alterations occurring in tumor only, although, on occasion, germline alterations will be addressed. Rapidly evolving DNA and RNA sequencing technologies profiling mutational patterns in