Literature DB >> 29361001

Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.

Ranjit Manchanda1,2,3, Shreeya Patel1,4, Vladimir S Gordeev5, Antonis C Antoniou6, Shantel Smith4, Andrew Lee6, John L Hopper7, Robert J MacInnis7, Clare Turnbull8, Susan J Ramus9,10, Simon A Gayther11, Paul D P Pharoah6, Usha Menon3, Ian Jacobs3,12, Rosa Legood4.   

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.

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Year:  2018        PMID: 29361001     DOI: 10.1093/jnci/djx265

Source DB:  PubMed          Journal:  J Natl Cancer Inst        ISSN: 0027-8874            Impact factor:   13.506


  58 in total

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6.  CDH1 on Multigene Panel Testing: Look Before You Leap.

Authors:  Bryson W Katona; Dana Farengo Clark; Susan M Domchek
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7.  Population Testing for High Penetrance Genes: Are We There Yet?

Authors:  Nicolas Wentzensen; Christine D Berg
Journal:  J Natl Cancer Inst       Date:  2018-07-01       Impact factor: 13.506

8.  A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of BRCA1/2.

Authors:  Ana F Best; Margaret A Tucker; Megan N Frone; Mark H Greene; June A Peters; Hormuzd A Katki
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2019-01-28       Impact factor: 4.254

9.  Uptake of genetic testing for germline BRCA1/2 pathogenic variants in a predominantly Hispanic population.

Authors:  Julia E McGuinness; Meghna S Trivedi; Thomas Silverman; Awilda Marte; Jennie Mata; Rita Kukafka; Katherine D Crew
Journal:  Cancer Genet       Date:  2019-04-24

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Journal:  JAMA Oncol       Date:  2019-01-01       Impact factor: 31.777

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