Update: Variable Implementation Of The 2018 Ukcgg/Ukgtn Guidelines For Breast Cancer Gene Panel Tests Offered By Uk Genetics Services

In 2017, the UK Cancer Genetics Group (UKCGG) and UK Genetic Testing Network (UKGTN) held a workshop which led to a consensus for UK cancer gene panel testing.1 The agreed breast cancer panel included BRCA1, BRCA2, PALB2, ATM, CHEK2, PTEN, STK11 and TP53 . The genes NBN, BRIP1, BARD1 and CDH1 were discussed, but excluded from the panel. The agreed ovarian cancer panel included BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, RAD51C and RAD51D . The agreed genes were included as there is sufficient evidence of a clear association with breast or ovarian cancer predisposition and identifying a pathogenic variant in one of these genes would have clinical implications for cancer management, surveillance or risk reducing surgery. Of note, eligibility criteria for these panels were not addressed at the workshop. During March–May 2020, UKCGG conducted a review of breast cancer panel testing offered in the UK; each UK genetics centre was asked to complete a survey about testing (online supplemental information).### Supplementary data\n\n[jmedgenet-2020-107529supp001.pdf]\n\nThere was a 100% response rate from the 24 centres. Figure 1 shows a comparison of testing pre-2018 versus post-2018 workshop. While some inconsistency remains on testing offered, there is a continued trend towards gene panel testing as agreed in 2018. Centres were additionally asked what testing they planned to offer following the introduction of the National Genomic Test Directory, which sets out the genomic tests commissioned by the National Health Service England and corresponding eligibility …