Breast Cancer Genetic Testing Expands in NHS

BREAST CANCER genetic testing was successfully delivered to 3,515 newly diagnosed patients across 14 NHS breast oncology units through the North Thames Mainstreaming of Breast Cancer Genetic Testing programme. The programme evaluated a clinician-light testing pathway known as BRCA-DIRECT, which incorporated home saliva testing and postal consent, supported by written and digital information and access to a Genetic Counsellor Telephone helpline.

The programme focused on testing for breast cancer susceptibility genes (BCSGs) in patients with breast cancer who were not selected according to existing genetic testing eligibility criteria. Patient and breast healthcare professional satisfaction was reported as high, while genetics healthcare professionals reported fewer service referrals.

Germline pathogenic variants (gPVs) were identified in 166 patients across seven BCSGs, corresponding to a pick-up rate of 4.7%. The analysis also examined how existing NHS eligibility criteria would have performed in the unselected cohort.