The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

Philpott, Sue, Raikou, Maria, Manchanda, Ranjit, Lockley, Michelle, Singh, Naveena, Scott, Malcolm, Evans, D. Gareth, Adlard, Julian, Ahmed, Munaza, Edmondson, Richard, Woodward, Emma Roisin, Lamnisos, Athena, Balega, Janos, Brady, Angela F., Sharma, Aarti, Izatt, Louise, Kulkarni, Anjana, Tripathi, Vishakha, Solomons, Joyce S., Hayes, Kevin, Hanson, Helen, Snape, Katie, Side, Lucy, Skates, Steve, McGuire, Alistair and Rosenthal, Adam N. (2023) The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2. Journal of Medical Genetics, 60 (5). 440 - 449. ISSN 0022-2593

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Abstract

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.

Item Type:	Article
Official URL:	https://jmg.bmj.com/
Additional Information:	© 2022 Author(s) (or their employer(s))
Divisions:	LSE Health Health Policy
Subjects:	R Medicine > RA Public aspects of medicine > RA0421 Public health. Hygiene. Preventive Medicine H Social Sciences > HB Economic Theory
JEL classification:	I - Health, Education, and Welfare > I1 - Health > I10 - General
Date Deposited:	06 Dec 2022 10:27
Last Modified:	25 Apr 2024 21:33
URI:	http://eprints.lse.ac.uk/id/eprint/117528

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