In Reply Whole-genome and whole-exome sequencing are already affecting clinical medicine, and we share Dr Grody and colleagues’ enthusiasm in using this technology to assist disease diagnosis. Furthermore, in our study, the discovery of a BRCA1 mutation that prompted potentially life-saving prophylactic surgery demonstrates the potential clinical effect of whole-genome sequencing in preventive medicine.
Grody and colleagues query whether the technical and interpretive challenges described in our report are related to technical problems in our laboratory, our sample population, or the use of whole-genome sequencing, and therefore outliers among recent success stories. The whole-genome sequencing for our study was performed at Illumina and Complete Genomics laboratories, so our technical experience could not reflect a peculiarity of our center.
Dewey F, Ashley E, Quertermous T. Interpreting Whole-Genome Sequencing—Reply. JAMA. 2014;312(3):296-297. doi:10.1001/jama.2014.6605