Posted 30th April 2018 by Jane Williams
Industrial and “omic” scale mutational profiling of solid tumours are possible as a result of massively parallel sequencing technology. However, these clinical genomic testing capabilities have also brought myriad new biological, technical and operational challenges not encountered in monogenic disorder testing. All of this impacts the interpretation and reporting of somatic variants. As a testament to the nascency of this field, the first published consensus guidelines for interpretation of variants in cancer was only released in early 2017.