Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.

摘要: Next-generation sequencing enables testing for multiple genes simultaneously (‘panel-based testing’) as opposed to sequential one inherited condition at a time (‘syndrome-based testing’). This study presents results from patients who underwent hereditary colorectal cancer (CRC) panel-based (‘ColoNext™’). De-identified data clinical laboratory were used calculate (1) frequencies patient demographic, clinical, and family history variables (2) rates of pathogenic mutations variants uncertain significance (VUS). The proportion individuals with mutation met national syndrome-based criteria was also determined. Of 586 patients, identified in 10.4%, while 20.1% had least VUS. After removing eight CHEK2 11 MUTYH heterozygotes, the percentage ‘actionable’ that would clearly alter screening recommendations per guidelines decreased 7.2%. 42 an result, 30 (71%) established guidelines. descriptive is among first report on large series undergoing CRC. Results are discussed context benefits concerns have been raised about implementation. Conflict interest Cristi Radford Jill Dolinsky full-time employees commercial Ambry Genetics, which performs ColoNext™ testing. Elizabeth Chao paid consultant Ambry. Deborah Cragun, Meghan Caldwell, Tuya Pal no potential conflicts interest. Specifically, they not employed by Ambry, did receive any financial or other incentives