Cost-Effectiveness of Testing for Breast Cancer Susceptibility Genes

Holland, Margaret L.; Huston, Alissa; Noyes, Katia

doi:10.1111/j.1524-4733.2008.00418.x

Cited by 41 publications

(92 citation statements)

References 41 publications

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“…39 The identification of a pseudodeficiency mutation in the Tay-Sachs disease screening program foretold the occurrence of benign polymorphisms in other screening settings. 40 One advantage to ethnicity-based genetic screening is the comparatively low frequency of variants of uncertain significance (rare for Ashkenazi founder mutation testing versus 7% for comprehensive DNA sequencing 41 ).…”

Section: Effect Of Uncertain Variants On Cost-effectivenessmentioning

confidence: 99%

“…One study suggested that genetic testing (i.e., comprehensive analysis at higher costs) was cost-effective even when the mutation detection probability was low, as long as a modest level of utility was gained from a negative result. 39 Of note, non-Jewish individuals volunteering for the Tay-Sachs screening program were offered testing. 40 …”

Section: A Translational Research Frameworkmentioning

confidence: 99%

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Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: A call for dialogue

Rubinstein

Jiang

Dellefave

et al. 2009

Genetics in Medicine

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Purpose: About half of unaffected BRCA1/2 carriers have a negative family history, confounding efforts toward presymptomatic carrier identification. Ovarian cancer is preventable for known carriers but is otherwise highly lethal. Cost-effectiveness and gains in life expectancy are important factors in evaluating the desirability of population-based genetic screening, currently the only viable strategy to identify carriers with unrevealing family histories. Methods: Cost-utility analysis for a population-based genetic screening program offered to American Ashkenazi Jewish women aged 35-55 years measuring cancer incidence, life expectancy, and cost. Results: Our model predicts that a genetic screening program would result in 2811 fewer cases of ovarian cancer, with a life expectancy gain of 1.83 quality-adjusted life years among carriers. At a cost of $460 for founder mutation testing, the cost of the program is $8300 (discounted) per year of quality-adjusted life gained. Conclusion:In populations with a high prevalence of BRCA1/2 founder mutations, genetic screening may be cost-effective when compared with recommended public health interventions such as mammographic screening. We advocate the initiation of a dialogue among Jewish stakeholders, genetics professionals, and public health leaders to determine whether a population-based BRCA1/2 genetic screening program should be pursued. Genet Med 2009:11(9):629 -639. Key Words: BRCA1, BRCA2, decision analysis, ovarian carcinoma, population-based genetic screeningA n inherited predisposition to hereditary breast and ovarian cancer should be heralded by a strong cancer family history, but surprisingly often, it is not. Incomplete penetrance, sexlimited expression, limited family structure, and incomplete family history information all contribute to the frequent observation of hereditary cancer cases, which lack premonitory clues. Female BRCA1/2 carriers who are unaware of their genetic status cannot undertake recommended measures such as early mammography and breast magnetic resonance imaging (MRI) or avail themselves of risk-reducing salpingo-oophorectomy after completion of childbearing. Women with nonscreen detected, early-onset breast cancer and those who develop ovarian cancer can be expected to face much higher morbidity and mortality than if they were undergoing high-risk management.An underlying assumption in clinical cancer genetics is that by maximizing the efficiency of the referral pipeline through such means as physician and patient education and computerized family history tools, most unaffected BRCA1/2 carriers could be identified before developing cancer. High-risk management could then be instituted in a family-centered manner to reduce the cancer burden. Although this holds true for families with recognizable features of hereditary cancer, several studies suggest that about half of all BRCA1/2 families cannot be identified using this approach. [1][2][3][4][5][6][7][8] BRCA1/2 mutation prevalence rates have been measured in several population-based...

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Section: Effect Of Uncertain Variants On Cost-effectivenessmentioning

confidence: 99%

Section: A Translational Research Frameworkmentioning

confidence: 99%

Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: A call for dialogue

Rubinstein

Jiang

Dellefave

et al. 2009

Genetics in Medicine

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“…Quadro 6. Busca eletrônica envolvendo estudos de avaliação econômica e mutação germinativa em genes BRCA1/2 (95)(96)(97)(98)(99)(100)(101)(102) . (97) , apesar da existência de diretrizes para a realização de testes genéticos em qualquer paciente com o diagnóstico comprovado de câncer de ovário.…”

Section: Paísunclassified

“…De todo modo, localizaram-se duas espécies de estudos que endereçaram temas pertinentes à mutação em genes BRCA1/2 na ausência de diagnóstico prévio de câncer de ovário. A primeira categoria de publicações avaliou a adoção de programa de rastreamento para mutação germinativa, em nível populacional, para indivíduos com algoritmo preditivo de risco para mutação ≥ 10% (99) ou etnia judaica Ashkenazi (95,98,102) . O segundo grupo de publicações avaliou a adoção de estratégias cirúrgicas preventivas para indivíduos reconhecidamente portadores de mutação germinativa em genes BRCA1/2 (88,92,93 Os objetivos do projeto principal relacionam-se ao reconhecimento do perfil genético de pacientes diagnosticadas com câncer de ovário, ao desenvolvimento de questionário para detecção de fatores associados, à estimativa de risco para mutação em genes BRCA1/2 mediante aplicação de algoritmos de risco e à avaliação de custoefetividade de testes genéticos.…”

Section: Paísunclassified

“…Assim, por meio do uso de metodologia para maximizar a eliminação de vieses, os autores informaram não encontrar evidências do efeito protetor previamente descrito (risco relativo: 1,09; intervalo de confiança de 95%: 0,67-1,77) (136) . apresentar mutação germinativa (95,98,99,102) . Uma destas publicações, dedicada à análise de condutas para indivíduos com algoritmo preditivo de risco para mutação em BRCA1/2 igual ou superior 10%, mostrou-se indiferente em relação ao uso da tecnologia, uma vez que os custos e os efeitos das alternativas que adotaram ou não o teste genético mostraram-se similares (99) .…”

Section: Descrição Custounclassified

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Análise de custo-efetividade de programa para diagnóstico de mutação germinativa em genes BRCA1/2 e de estratégias preventivas para pacientes com câncer de ovário e seus familiares de primeiro grau

Ramos¹

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Economic modeling of risk-adapted screen-and-treat strategies in women at high risk for breast or ovarian cancer

et al. 2019

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BackgroundThe 'German Consortium for Hereditary Breast and Ovarian Cancer' (GC-HBOC) offers women with a family history of breast and ovarian cancer genetic counselling. The aim of this modeling study was to evaluate the cost-effectiveness of genetic testing for BRCA 1/2 in women with a high familial risk followed by different preventive interventions (intensified surveillance, risk-reducing bilateral mastectomy, risk-reducing bilateral salpingo-oophorectomy, or both mastectomy and salpingooophorectomy) compared to no genetic test. MethodsA Markov model with a lifelong time horizon was developed for a cohort of 35-year old women with a BRCA 1/2 mutation probability of ≥10%. The perspective of the German statutory health insurance (SHI) was adopted. The model included the health states ‚well' (women with increased risk), 'breast cancer without metastases', 'breast cancer with metastases', 'ovarian cancer', 'death', and two post (non-metastatic) breast or ovarian cancer states. Outcomes were costs, quality of life years gained (QALYs) and life years gained (LYG). Important data used for the model was obtained from 4380 women enrolled in the GC-HBOC. ResultsCompared with the no test strategy, genetic testing with subsequent surgical and non-surgical treatment options provided to women with deleterious BRCA 1 or 2 mutations resulted in additional costs of €7256 and additional QALYs of 0,43 (incremental cost-effectiveness ratio of €17,027 per QALY; cost per LYG: €22,318). The results were robust in deterministic and probabilistic sensitivity analyses. ConclusionThe provision of genetic testing to high-risk women with a BRCA1 and 2 mutation probability of ≥10% based on the individual family cancer history appears to be a cost-effective option for the SHI.

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Cost-Effectiveness of Testing for Breast Cancer Susceptibility Genes

Cited by 41 publications

References 41 publications

Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: A call for dialogue

Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: A call for dialogue

Análise de custo-efetividade de programa para diagnóstico de mutação germinativa em genes BRCA1/2 e de estratégias preventivas para pacientes com câncer de ovário e seus familiares de primeiro grau

Economic modeling of risk-adapted screen-and-treat strategies in women at high risk for breast or ovarian cancer

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