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Applying the NHS test directory rules at one large breast unit, 255 of 1,812 new patients were eligible, 196 were tested and 14% carried an inherited variant; the result changed surgery for 14 women and gave three a PARP inhibitor.
Eligibility under the NHS National Genomic Test Directory R208 (mainstream breast cancer testing, published 2020) and R444.1 (PARP inhibitor eligibility) was assessed for every patient diagnosed with DCIS or invasive breast cancer between March 2021 and March 2025. Of 1,812 new diagnoses, 255 were eligible and 196 consented; 28 (14.3%) carried a pathogenic or likely pathogenic variant, eight eligible only on family history. Of 21 candidates for breast conservation, 13 had preoperative results and eight chose bilateral mastectomy; three women with a new BRCA variant received a PARP inhibitor. Eligibility assessment was time-consuming for trained clinicians.
This is what the NHS R208 pathway yields in practice: a one-in-seven positive rate among the eligible, at the cost of clinician time spent on eligibility scoring.
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Breast cancer (all types).
Shares Germline BRCA1/2 pathogenic variant (gBRCAm), Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Breast cancer (all types), Triple-negative breast cancer (TNBC).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Breast cancer (all types).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Triple-negative breast cancer (TNBC).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Breast cancer (all types).
Shares BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Breast cancer (all types), Triple-negative breast cancer (TNBC).