eprintid: 10041887 rev_number: 31 eprint_status: archive userid: 608 dir: disk0/10/04/18/87 datestamp: 2018-01-29 11:55:07 lastmod: 2021-12-13 01:37:31 status_changed: 2018-01-29 11:55:07 type: article metadata_visibility: show creators_name: Manchanda, R creators_name: Patel, S creators_name: Gordeev, VS creators_name: Antoniou, AC creators_name: Smith, S creators_name: Lee, A creators_name: Hopper, JL creators_name: MacInnis, RJ creators_name: Turnbull, C creators_name: Ramus, SJ creators_name: Gayther, SA creators_name: Pharoah, PDP creators_name: Menon, U creators_name: Jacobs, I creators_name: Legood, R title: Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women ispublished: pub divisions: UCL divisions: B02 divisions: D65 divisions: J38 keywords: mutation, cancer, cost effectiveness, brca1 protein, brca2 protein, brca1 gene, brca2 gene, life expectancy, quality-adjusted life years, mastectomy, breast cancer, brca2 mutation testing, sensitivity analysis, palb2 gene note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. abstract: Background: The cost-effectiveness of population-based panel testing for high- and moderate-penetrance ovarian cancer (OC)/breast cancer (BC) gene mutations is unknown. We evaluate the cost-effectiveness of population-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 mutation testing compared with clinical criteria/family history (FH) testing in unselected general population women. Methods: A decision-analytic model comparing lifetime costs and effects of criteria/FH-based BRCA1/BRCA2 testing is compared with BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing in those fulfilling clinical criteria/strong FH of cancer (≥10% BRCA1/BRCA2 probability) and all women age 30 years or older. Analyses are presented for UK and US populations. Identified carriers undergo risk-reducing salpingo-oophorectomy. BRCA1/BRCA2/PALB2 carriers can opt for magnetic resonance imaging/mammography, chemoprevention, or risk-reducing mastectomy. One-way and probabilistic sensitivity analysis (PSA) enabled model uncertainty evaluation. Outcomes include OC, BC, and additional heart disease deaths. Quality-adjusted life-years (QALYs), OC incidence, BC incidence, and incremental cost-effectiveness ratio (ICER) were calculated. The time horizon is lifetime and perspective is payer. Results: Compared with clinical criteria/FH-based BRCA1/BRCA2 testing, clinical criteria/FH-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing is cost-effective (ICER = £7629.65/QALY or $49 282.19/QALY; 0.04 days' life-expectancy gained). Population-based testing for BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 mutations is the most cost-effective strategy compared with current policy: ICER = £21 599.96/QALY or $54 769.78/QALY (9.34 or 7.57 days' life-expectancy gained). At £30 000/QALY and $100 000/QALY willingness-to-pay thresholds, population-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 panel testing is the preferred strategy in 83.7% and 92.7% of PSA simulations; criteria/FH-based panel testing is preferred in 16.2% and 5.8% of simulations, respectively. Population-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing can prevent 1.86%/1.91% of BC and 3.2%/4.88% of OC in UK/US women: 657/655 OC cases and 2420/2386 BC cases prevented per million. Conclusions: Population-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing is more cost-effective than any clinical criteria/FH-based strategy. Clinical criteria/FH-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing is more cost-effective than BRCA1/BRCA2 testing alone. date: 2018-07 date_type: published official_url: https://doi.org/10.1093/jnci/djx265 oa_status: green full_text_type: other language: eng primo: open primo_central: open_green verified: verified_manual elements_id: 1527616 doi: 10.1093/jnci/djx265 pii: 4816906 lyricists_name: Manchanda, Ranjit lyricists_name: Menon, Usha lyricists_id: RMANC30 lyricists_id: UMENO29 actors_name: Manchanda, Ranjit actors_id: RMANC30 actors_role: owner full_text_status: public publication: Journal of the National Cancer Institute volume: 110 number: 7 pagerange: 714-725 event_location: United States issn: 1460-2105 citation: Manchanda, R; Patel, S; Gordeev, VS; Antoniou, AC; Smith, S; Lee, A; Hopper, JL; ... Legood, R; + view all <#> Manchanda, R; Patel, S; Gordeev, VS; Antoniou, AC; Smith, S; Lee, A; Hopper, JL; MacInnis, RJ; Turnbull, C; Ramus, SJ; Gayther, SA; Pharoah, PDP; Menon, U; Jacobs, I; Legood, R; - view fewer <#> (2018) Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women. Journal of the National Cancer Institute , 110 (7) pp. 714-725. 10.1093/jnci/djx265 <https://doi.org/10.1093/jnci%2Fdjx265>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/10041887/1/17-0764R2%20Manchanda_AB_RM-v1_FINALaccepted.pdf