TY - JOUR T1 - The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in <em>BRCA1</em> and <em>BRCA2</em> JF - Journal of Medical Genetics JO - J Med Genet DO - 10.1136/jmg-2022-108741 SP - jmedgenet-2022-108741 AU - Sue Philpott AU - Maria Raikou AU - Ranjit Manchanda AU - Michelle Lockley AU - Naveena Singh AU - Malcolm Scott AU - D Gareth Evans AU - Julian Adlard AU - Munaza Ahmed AU - Richard Edmondson AU - Emma Roisin Woodward AU - Athena Lamnisos AU - Janos Balega AU - Angela F Brady AU - Aarti Sharma AU - Louise Izatt AU - Anjana Kulkarni AU - Vishakha Tripathi AU - Joyce S Solomons AU - Kevin Hayes AU - Helen Hanson AU - Katie Snape AU - Lucy Side AU - Steve Skates AU - Alistair McGuire AU - Adam N Rosenthal Y1 - 2022/10/10 UR - http://jmg.bmj.com/content/early/2022/10/10/jmg-2022-108741.abstract N2 - Background Our study aimed to establish ‘real-world’ performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline BRCA1/2 variants who defer risk-reducing bilateral salpingo-oophorectomy (RRSO).Methods Our study recruited 875 female BRCA1/2-heterozygotes at 13 UK centres and via an online media campaign, with 767 undergoing at least one 4-monthly surveillance test with the Risk of Ovarian Cancer Algorithm (ROCA) test. Surveillance performance was calculated with modelling of occult cancers detected at RRSO. The incremental cost-effectiveness ratio (ICER) was calculated using Markov population cohort simulation.Results Our study identified 8 OCs during 1277 women screen years: 2 occult OCs at RRSO (both stage 1a), and 6 screen-detected; 3 of 6 (50%) were ≤stage 3a and 5 of 6 (83%) were completely surgically cytoreduced. Modelled sensitivity, specificity, Positive Predictive Value (PPV) and Negative Predictive Value (NPV) for OC were 87.5% (95% CI, 47.3 to 99.7), 99.9% (99.9–100), 75% (34.9–96.8) and 99.9% (99.9–100), respectively. The predicted number of quality-adjusted life years (QALY) gained by surveillance was 0.179 with an ICER cost-saving of -£102,496/QALY.Conclusion OC surveillance for women deferring RRSO in a ‘real-world’ setting is feasible and demonstrates similar performance to research trials; it down-stages OC, leading to a high complete cytoreduction rate and is cost-saving in the UK National Health Service (NHS) setting. While RRSO remains recommended management, ROCA-based surveillance may be considered for female BRCA-heterozygotes who are deferring such surgery.Data are available upon reasonable request. ER -