{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T16:06:03Z","timestamp":1782489963643,"version":"3.54.5"},"reference-count":80,"publisher":"American Medical Association (AMA)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Netw Open"],"abstract":"<jats:sec id=\"ab-zoi231647-4\"><jats:title>Importance<\/jats:title><jats:p>The current method of <jats:italic>BRCA<\/jats:italic> testing for breast and ovarian cancer prevention, which is based on family history, often fails to identify many carriers of pathogenic variants. Population-based genetic testing offers a transformative approach in cancer prevention by allowing for proactive identification of any high-risk individuals and enabling early interventions.<\/jats:p><\/jats:sec><jats:sec id=\"ab-zoi231647-5\"><jats:title>Objective<\/jats:title><jats:p>To assess the lifetime incremental effectiveness, costs, and cost-effectiveness of population-based multigene testing vs family history\u2013based testing.<\/jats:p><\/jats:sec><jats:sec id=\"ab-zoi231647-6\"><jats:title>Design, Setting, and Participants<\/jats:title><jats:p>This economic evaluation used a microsimulation model to assess the cost-effectiveness of multigene testing (<jats:italic>BRCA1, BRCA2, <\/jats:italic>and<jats:italic> PALB2<\/jats:italic>) for all women aged 30 to 35 years compared with the current standard of care that is family history based. Carriers of pathogenic variants were offered interventions, such as magnetic resonance imaging with or without mammography, chemoprevention, or risk-reducing mastectomy and salpingo-oophorectomy, to reduce cancer risk. A total of 2000 simulations were run on 1\u202f000\u202f000 women, using a lifetime time horizon and payer perspective, and costs were adjusted to 2022 US dollars. This study was conducted from September 1, 2020, to December 15, 2023.<\/jats:p><\/jats:sec><jats:sec id=\"ab-zoi231647-7\"><jats:title>Main Outcomes and Measures<\/jats:title><jats:p>The main outcome measure was the incremental cost-effectiveness ratio (ICER), quantified as cost per quality-adjusted life-year (QALY) gained. Secondary outcomes included incremental cost, additional breast and ovarian cancer cases prevented, and excess deaths due to coronary heart disease (CHD).<\/jats:p><\/jats:sec><jats:sec id=\"ab-zoi231647-8\"><jats:title>Results<\/jats:title><jats:p>The study assessed 1\u202f000\u202f000 simulated women aged 30 to 35 years in the US. In the base case, population-based multigene testing was more cost-effective compared with family history\u2013based testing, with an ICER of $55\u202f548 per QALY (95% CI, $47\u202f288-$65\u202f850 per QALY). Population-based multigene testing would be able to prevent an additional 1338 cases of breast cancer and 663 cases of ovarian cancer, but it would also result in 69 cases of excess CHD and 10 excess CHD deaths per million women. The probabilistic sensitivity analyses show that the probability that population-based multigene testing is cost-effective was 100%. When the cost of the multigene test exceeded $825, population-based testing was no longer cost-effective (ICER, $100\u202f005 per QALY; 95% CI, $87\u202f601-$11\u202f6323).<\/jats:p><\/jats:sec><jats:sec id=\"ab-zoi231647-9\"><jats:title>Conclusions and Relevance<\/jats:title><jats:p>In this economic analysis of population-based multigene testing, population-based testing was a more cost-effective strategy for the prevention of breast cancer and ovarian cancer when compared with the current family history\u2013based testing strategy at the $100\u202f000 per QALY willingness-to-pay threshold. These findings support the need for more comprehensive genetic testing strategies to identify pathogenic variant carriers and enable informed decision-making for personalized risk management.<\/jats:p><\/jats:sec>","DOI":"10.1001\/jamanetworkopen.2023.56078","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T16:01:22Z","timestamp":1707926482000},"page":"e2356078","source":"Crossref","is-referenced-by-count":17,"title":["Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention"],"prefix":"10.1001","volume":"7","author":[{"given":"Fangjian","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, The University of Texas Medical Branch at Galveston, Galveston"},{"name":"Center for Interdisciplinary Research in Women\u2019s Health, The University of Texas Medical Branch at Galveston, 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