Hereditary genetic testing and mainstreaming: a guide for surgeons

Since the discovery of the BRCA1 and BRCA2 genes, and their association with breast cancer in 1994, their clinical impact and indeed public notability have increased exponentially. [...]surgeons now have more of a direct interest in ensuring timely testing for their patients and in accessing their results promptly. Consistent with this, surgeons have now been added to the list of requesting specialties for a variety of germline genetic tests across a range of indications in the national guidance (Table 1).4 Table 1 Summary of genomic testing for which surgeons or surgical specialties are listed as requesting clinicians in the NHS national genomic test directory4 Surgical specialty Gene target(s) Criteria reference Condition General clinical circumstances on which testing criteria are based* Colorectal and gynaecological MLH1, MSH2, MSH6, PMS2 R210 Lynch syndrome DNA mismatch repair colorectal or endometrial tumour and/or relevant personal/family history Colorectal Inherited polyposis small gene panel (currently APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, STK11) R211 Inherited polyposis Appropriate personal/family history of polyps/early-onset colorectal cancer Gynaecological and obstetric CFTR R184 CF Obstructive azoospermia with absence of vas deferens, or fetal features suggestive of CF Gynaecological CFTR R185 CF carrier testing Egg or sperm donor, family history of CF or both parents of fetus with suspected CF Gynaecological BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, PALB2, RAD51C, RAD51D R207 Ovarian cancer Appropriate personal/family history of ovarian cancer (without breast cancer) Gynaecological Karyotype, FMR1 R402 Premature ovarian insufficiency Personal history of premature ovarian insufficiency with biochemical confirmation Neurosurgery and urology VHL R225 VHL disease Appropriate personal/family history of VHL-related tumours (e.g. cerebellar haemangioblastoma