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英国癌症基因服务模式的成本分析。

A cost analysis of a cancer genetic service model in the UK.

作者信息

Slade Ingrid, Hanson Helen, George Angela, Kohut Kelly, Strydom Ann, Wordsworth Sarah, Rahman Nazneen

机构信息

Oxford University Hospitals NHS Trust, Oxford, UK.

Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Old Road Campus, Headington, Oxford, OX3 7LF, UK.

出版信息

J Community Genet. 2016 Jul;7(3):185-94. doi: 10.1007/s12687-016-0266-4. Epub 2016 Feb 27.

Abstract

Technological advances in DNA sequencing have made gene testing fast and more affordable. Evidence of effectiveness and cost-effectiveness of genetic service models is essential for the successful translation of sequencing improvements for patient benefit, but remain sparse in the genetics literature. In particular, there is a lack of detailed cost data related to genetic services. A detailed micro-costing of 28 possible pathways relating to breast and/or ovarian cancer and BRCA testing was carried out by defining service activities and establishing associated costs. These data were combined with patient-level data from a Royal Marsden Cancer Genetics Service audit over a 6-month period during which BRCA testing was offered to individuals at ≥10 % risk of having a mutation, in line with current NICE guidance. The average cost across all patient pathways was £2227.39 (range £376.51 to £13,553.10). The average cost per pathway for an affected person was £1897.75 compared to £2410.53 for an unaffected person. Of the women seen in the Cancer Genetics Service during the audit, 38 % were affected with breast and/or ovarian cancer, and 62 % were unaffected but concerned about their family history. The most efficient service strategy is to identify unaffected relatives from an affected individual with an identified BRCA mutation. Implementation of this strategy would require more comprehensive testing of all eligible cancer patients, which could be achieved by integrating BRCA testing into oncology services. Such integration would be also more time-efficient and deliver greater equity of access to BRCA testing than the standard service model.

摘要

DNA测序技术的进步使基因检测变得快速且成本更低。遗传服务模式的有效性和成本效益证据对于将测序改进成功转化以造福患者至关重要,但在遗传学文献中仍然很少见。特别是,缺乏与遗传服务相关的详细成本数据。通过定义服务活动并确定相关成本,对与乳腺癌和/或卵巢癌及BRCA检测相关的28条可能途径进行了详细的微观成本核算。这些数据与皇家马斯登癌症遗传学服务机构在6个月期间的患者层面数据相结合,在此期间,根据当前英国国家卫生与临床优化研究所(NICE)的指导方针,为携带突变风险≥10%的个体提供BRCA检测。所有患者途径的平均成本为2227.39英镑(范围为376.51英镑至13553.10英镑)。受影响者每条途径的平均成本为1897.75英镑,而未受影响者为2410.53英镑。在审计期间癌症遗传学服务机构接待的女性中,38%患有乳腺癌和/或卵巢癌,62%未受影响但担心家族病史。最有效的服务策略是从已确定携带BRCA突变的受影响个体中识别未受影响的亲属。实施该策略需要对所有符合条件的癌症患者进行更全面的检测,这可以通过将BRCA检测纳入肿瘤学服务来实现。与标准服务模式相比,这种整合还将更节省时间,并在获得BRCA检测方面实现更大的公平性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89a7/4960025/fd70b750e695/12687_2016_266_Fig1_HTML.jpg

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