ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 5 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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
63 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Assessing Value for Money in Theranostic Nuclear Medicine: A Systematic Review.Journal of nuclear medicine : official publication, Society of Nuclear Medicine · 2026Pooled it
- The Cost Effectiveness of Genomic Medicine in Cancer Control: A Systematic Literature Review.Applied health economics and health policy · 2025Pooled it
- Systematic evidence review and meta-analysis of outcomes associated with cancer genetic counseling.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Pooled 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
- Improving Uptake of Cancer Genetic Risk Assessment in a Remote Tailored Risk Communication and Navigation Intervention: Large Effect Size but Room to Grow.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Trial
- All HER2-negative breast cancer patients need gBRCA testing: cost-effectiveness and clinical benefits.British journal of cancer · 2023Trial
- A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.Journal of medical genetics · 2022Trial
- The Genetic Education for Men (GEM) Trial: Development of Web-Based Education for Untested Men in BRCA1/2-Positive Families.Journal of cancer education : the official journal of the American Association for Cancer Education · 2021Trial
- Universal versus Guideline-Directed Germline Testing in Breast Cancer: Incremental Diagnostic Yield in a Predominantly Black Population.Annals of surgical oncology · 2026Article
- BRCA1 and BRCA2 population screening in Latvia: feasibility, engagement, and early lessons from a pilot study.European journal of human genetics : EJHG · 2026Article
- Differences in Cascade Genetic Testing Among Families With Hereditary Cancer Risk.JAMA network open · 2026Article
- Leveraging Electronic Health Records to Examine the Real-World Rates of Cancer Genetics Referrals in a Singapore Health Care Cluster.JCO oncology practice · 2026Article
- Implementing Precision Medicine for Dilated Cardiomyopathy: Insights From the DCM Consortium.Circulation. Genomic and precision medicine · 2025Article
- Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer.Cancer medicine · 2025Review
- Observational
- Cost-Effectiveness of Remote Tailored Risk Communication and Navigation for Hereditary Genetic Risk Assessment Uptake: Economic Evaluation From the Genetic Risk Assessment for Cancer Education and Empowerment Trial.JCO oncology practice · 2025Article
- Thirty Years of BRCA1: Mechanistic Insights and Their Impact on Mutation Carriers.Cancer discovery · 2025Review
- The role of clinical genetics in integrating cancer genetics care in Aotearoa New Zealand: improved access for improved outcomes.Journal of the Royal Society of New Zealand · 2025Article
- Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.European journal of human genetics : EJHG · 2024Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo evaluate the cost-effectiveness of BRCA testing in women with breast cancer, and cascade testing in family members of BRCA mutation carriers.
methodsA cost-effectiveness analysis was conducted using a cohort Markov model from a health-payer perspective. The model estimated the long-term benefits and costs of testing women with breast cancer who had at least a 10% pretest BRCA mutation probability, and the cascade testing of first- and second-degree relatives of women who test positive.
resultsCompared with no testing, BRCA testing of affected women resulted in an incremental cost per quality-adjusted life-year (QALY) gained of AU$18,900 (incremental cost AU$1,880; incremental QALY gain 0.10) with reductions of 0.04 breast and 0.01 ovarian cancer events. Testing affected women and cascade testing of family members resulted in an incremental cost per QALY gained of AU$9,500 compared with testing affected women only (incremental cost AU$665; incremental QALY gain 0.07) with additional reductions of 0.06 breast and 0.01 ovarian cancer events.
conclusionBRCA testing in women with breast cancer is cost-effective and is associated with reduced risk of cancer and improved survival. Extending testing to cover family members of affected women who test positive improves cost-effectiveness beyond restricting testing to affected women only.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.