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O3 Utilising nationally collected data to identify and retrospectively offer germline genetic testing for people diagnosed historically with breast and ovarian cancer: BRCA-DIRECT-RETROSPECTIVE

jmedgenet · 2026-01-28 · canonical JSON source

7 visible annotations · policy: published · automated confidence ≥ 75.00%

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There are patients diagnosed historically with a cancer who are at equivalent likelihood of having a germline pathogenic variant (gPV) in a cancer susceptibility gene as those presenting in oncology clinics today, but for whom testing was not available or offered. Missing opportunities for targeted screening, prevention, and early detection.Utilising nationally collected data from NDRS, we identified patients eligible for germline genetic testing, based on features of their cancer (triple negative breast cancer (BC); bilateral BC; and high-grade serous ovarian cancer (OC)); where linkage to NHS laboratory germline testing data showed no record of testing.Supported by the NHS England Cancer Programme, the Retrospective Genetic Testing Programme is inviting these patients for testing, via a ‘BRCA-DIRECT’ pathway. Testing is conducted according to National Test Directory ‘R207 (hereditary OC)’ and ‘R208 (hereditary BC)’ criteria.We will present findings from the pilot phase of the programme (May 2025 to August 2025). During which, 1189 patients were identified for test offer (650 BC and 541 OC patients, diagnosed between 2015 and 2018). Evaluating: (i) the potential impact of retrospective test offer for identifying gPV carriers, and (ii) the appropriateness of the method of contact and utilising nationally collected date for this purpose.