SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2016
Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations.
Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 8 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
49 citing papers in PubMed, 8 syntheses or guidelines pooled it.
- Weighing the evidence on costs and benefits of polygenic risk-based approaches in clinical practice: A systematic review of economic evaluations.American journal of human genetics · 2025Pooled it
- Measuring the health benefits of genome and exome sequencing: a systematic review of economic evaluations.Frontiers in public health · 2025Pooled it
- Economic evaluation of germline genetic testing for breast cancer in low- and middle-income countries: a systematic review.BMC cancer · 2024Pooled it
- A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Pooled it
- Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature.Frontiers in genetics · 2019Pooled it
- Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Cost-effectiveness and comparative effectiveness of cancer risk management strategies in BRCA1/2 mutation carriers: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- How is genetic testing evaluated? A systematic review of the literature.European journal of human genetics : EJHG · 2018Pooled it
- All HER2-negative breast cancer patients need gBRCA testing: cost-effectiveness and clinical benefits.British journal of cancer · 2023Trial
- Trial
- Barriers and motivators for BRCA genetic testing in Japan.Journal of genetic counseling · 2026Article
- TMB as a predictive biomarker for ICI response in TNBC: current evidence and future directions for augmented anti-tumor responses.Clinical and experimental medicine · 2025Review
- Cost-effectiveness analysis of population-basedFrontiers in public health · 2025Article
- Evaluation of an Italian Population-Based Programme for Risk Assessment and Genetic Counselling and Testing for BRCA1/2-Related Hereditary Breast and Ovarian Cancer after 10 Years of Operation: An Observational Study Protocol.Methods and protocols · 2024Article
- The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.Communications biology · 2024Article
- A cost-effectiveness analysis of an integrated clinical-radiogenomic screening program for the identification of BRCA 1/2 carriers (e-PROBE study).Scientific reports · 2024Article
- Article
- Rational Approach to Finding Genes Encoding Molecular Biomarkers: Focus on Breast Cancer.Genes · 2022Article
- Research on the Economics of Cancer-Related Health Care: An Overview of the Review Literature.Journal of the National Cancer Institute. Monographs · 2022Review
- Financial constraints on genetic counseling and further risk-management decisions among U.S. women at elevated breast cancer risk.Journal of genetic counseling · 2021Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThere is considerable evidence regarding the efficacy and effectiveness of BRCA genetic testing programs, but whether they represent good use of financial resources is not clear. Therefore, we aimed to identify the main health-care programs for BRCA testing and to evaluate their cost-effectiveness.
methodsWe performed a systematic review of full economic evaluations of health-care programs involving BRCA testing.
resultsNine economic evaluations were included, and four main categories of BRCA testing programs were identified: (i) population-based genetic screening of individuals without cancer, either comprehensive or targeted based on ancestry; (ii) family history (FH)-based genetic screening, i.e., testing individuals without cancer but with FH suggestive of BRCA mutation; (iii) familial mutation (FM)-based genetic screening, i.e., testing individuals without cancer but with known familial BRCA mutation; and (iv) cancer-based genetic screening, i.e., testing individuals with BRCA-related cancers.
conclusionsCurrently BRCA1/2 population-based screening represents good value for the money among Ashkenazi Jews only. FH-based screening is potentially very cost-effective, although further studies that include costs of identifying high-risk women are needed. There is no evidence of cost-effectiveness for BRCA screening of all newly diagnosed cases of breast/ovarian cancers followed by cascade testing of relatives, but programs that include tools for identifying affected women at higher risk for inherited forms are promising. Cost-effectiveness is highly sensitive to the cost of BRCA1/2 testing.Genet Med 18 12, 1171-1180.
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