Srinivas Teppala, Paul Scuffham, Kim Edmunds, Matthew J Roberts, David P Smith, David Fairbairn, Lisa G Horvath, Haitham Tuffaha
{"title":"靶向生殖系BRCA检测在局部前列腺癌中的成本效用,随后进行一级亲属致病变异级联检测。","authors":"Srinivas Teppala, Paul Scuffham, Kim Edmunds, Matthew J Roberts, David P Smith, David Fairbairn, Lisa G Horvath, Haitham Tuffaha","doi":"10.1016/j.gim.2025.101463","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Genetic testing is recommended in localised prostate cancer (PCa) with elevated risk and in metastatic PCa (mPCa). The economics of genetic testing in mPCa has been evaluated but not assessed in localised PCa. We examined the cost-utility of germline BRCA testing in localised PCa with high-risk of pathogenic variants.</p><p><strong>Methods: </strong>Cost-utility analysis of germline BRCA testing in localised PCa with 1) high/very high-risk classification; 2) family history of PCa; 3) Ashkenazi-Jewish ancestry. Analyses were performed from an Australian payer perspective using semi-Markov models over lifetime; quality-adjusted life years (QALYs) were the health outcomes. Decision uncertainty was characterized using one-way and probabilistic sensitivity analyses.</p><p><strong>Results: </strong>The incremental cost-effectiveness ratio (ICER) of BRCA testing compared to no testing was AU$591,408/QALY in high/very high-risk patients, AU$3.9 million/QALY with family history of PCa and AU$650,098/QALY in Ashkenazi-Jews. Adding cascade testing of first-degree relatives (FDRs) resulted in ICERs of AU$18,872/QALY, AU$47,294/QALY and AU$14,637/QALY in the aforementioned groups. At a willingness-to-pay of AU$75,000/QALY, BRCA testing was not likely to be cost-effective in PCa patients; however, was cost-effective after cascade testing FDRs.</p><p><strong>Conclusion: </strong>Germline BRCA testing may not be cost-effective when limited to patients with localised PCa but demonstrates value for money when extended to FDRs.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101463"},"PeriodicalIF":6.6000,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The cost-utility of targeted germline BRCA testing in localised prostate cancer followed by cascade testing first-degree relatives with pathogenic variants.\",\"authors\":\"Srinivas Teppala, Paul Scuffham, Kim Edmunds, Matthew J Roberts, David P Smith, David Fairbairn, Lisa G Horvath, Haitham Tuffaha\",\"doi\":\"10.1016/j.gim.2025.101463\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>Genetic testing is recommended in localised prostate cancer (PCa) with elevated risk and in metastatic PCa (mPCa). The economics of genetic testing in mPCa has been evaluated but not assessed in localised PCa. We examined the cost-utility of germline BRCA testing in localised PCa with high-risk of pathogenic variants.</p><p><strong>Methods: </strong>Cost-utility analysis of germline BRCA testing in localised PCa with 1) high/very high-risk classification; 2) family history of PCa; 3) Ashkenazi-Jewish ancestry. Analyses were performed from an Australian payer perspective using semi-Markov models over lifetime; quality-adjusted life years (QALYs) were the health outcomes. Decision uncertainty was characterized using one-way and probabilistic sensitivity analyses.</p><p><strong>Results: </strong>The incremental cost-effectiveness ratio (ICER) of BRCA testing compared to no testing was AU$591,408/QALY in high/very high-risk patients, AU$3.9 million/QALY with family history of PCa and AU$650,098/QALY in Ashkenazi-Jews. Adding cascade testing of first-degree relatives (FDRs) resulted in ICERs of AU$18,872/QALY, AU$47,294/QALY and AU$14,637/QALY in the aforementioned groups. At a willingness-to-pay of AU$75,000/QALY, BRCA testing was not likely to be cost-effective in PCa patients; however, was cost-effective after cascade testing FDRs.</p><p><strong>Conclusion: </strong>Germline BRCA testing may not be cost-effective when limited to patients with localised PCa but demonstrates value for money when extended to FDRs.</p>\",\"PeriodicalId\":12717,\"journal\":{\"name\":\"Genetics in Medicine\",\"volume\":\" \",\"pages\":\"101463\"},\"PeriodicalIF\":6.6000,\"publicationDate\":\"2025-05-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetics in Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.gim.2025.101463\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics in Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.gim.2025.101463","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
The cost-utility of targeted germline BRCA testing in localised prostate cancer followed by cascade testing first-degree relatives with pathogenic variants.
Purpose: Genetic testing is recommended in localised prostate cancer (PCa) with elevated risk and in metastatic PCa (mPCa). The economics of genetic testing in mPCa has been evaluated but not assessed in localised PCa. We examined the cost-utility of germline BRCA testing in localised PCa with high-risk of pathogenic variants.
Methods: Cost-utility analysis of germline BRCA testing in localised PCa with 1) high/very high-risk classification; 2) family history of PCa; 3) Ashkenazi-Jewish ancestry. Analyses were performed from an Australian payer perspective using semi-Markov models over lifetime; quality-adjusted life years (QALYs) were the health outcomes. Decision uncertainty was characterized using one-way and probabilistic sensitivity analyses.
Results: The incremental cost-effectiveness ratio (ICER) of BRCA testing compared to no testing was AU$591,408/QALY in high/very high-risk patients, AU$3.9 million/QALY with family history of PCa and AU$650,098/QALY in Ashkenazi-Jews. Adding cascade testing of first-degree relatives (FDRs) resulted in ICERs of AU$18,872/QALY, AU$47,294/QALY and AU$14,637/QALY in the aforementioned groups. At a willingness-to-pay of AU$75,000/QALY, BRCA testing was not likely to be cost-effective in PCa patients; however, was cost-effective after cascade testing FDRs.
Conclusion: Germline BRCA testing may not be cost-effective when limited to patients with localised PCa but demonstrates value for money when extended to FDRs.
期刊介绍:
Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health.
GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.