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.
Under current criteria, genetic testing would have been offered to 20.6% of patients. This approach would have identified 49.2% of gPVs in high penetrance BCSGs, specifically BRCA1, BRCA2 and PALB2, and 18.2% of gPVs in intermediate penetrance BCSGs, including CHEK2, ATM, RAD51C and RAD51D.
The researchers then developed simplified eligibility criteria designed for mainstream testing. The proposed approach increased the proportion of breast cancer cases eligible for testing to 49.7%, while improving sensitivity for detecting gPVs in high penetrance BCSGs to 81.1% and in intermediate penetrance BCSGs to 70.4%.
The findings indicated that breast cancer genetic testing could be delivered through a clinician-light pathway while maintaining high levels of patient and healthcare professional satisfaction. The programme also reported a reduction in referrals to genetics services, suggesting that the approach could be implemented without increasing the reported burden on breast and genetics workforces.
The authors concluded that expanding BCSG testing through a simplified mainstreaming pathway was feasible and acceptable. The findings also suggested that broader testing criteria could identify a greater proportion of pathogenic variants than current NHS eligibility criteria within the unselected cohort.
Further application of simplified eligibility criteria could therefore expand access to genetic testing among patients with newly diagnosed breast cancer while supporting existing breast and genetics services.
Reference
Torr B et al. Routine germline genetic testing in 3552 unselected NHS breast cancer patients: evidence informing testing criteria and implementation of a ‘BRCA-DIRECT’ mainstreaming pathway. Npj Breast Cancer. 2026;DOI: https://doi.org/10.1038/s41523-026-01000-4.
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