Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review.
Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review.
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通过全基因组测序确定临床可行的发现的经济证据：范围审查。
DOI：
10.1038/gim.2015.69
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发表时间：
2016-02
期刊：
影响因子：
--
通讯作者：
Phillips KA
中科院分区：
文献类型：
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作者：
Douglas MP;Ladabaum U;Pletcher MJ;Marshall DA;Phillips KA
美国医学遗传学学会（ACMG）建议，56个基因在24种情况下的突变在临床上是可行的，并应在全基因组测序（WGS）后作为次要发现报告。我们的目的是确定在这些基因和条件下的普通人群或目标/高危人群中检测突变的已发表的经济评估，并确定知识上的空白。对1994年至2014年11月的PUBMED进行了有针对性的检索，我们纳入了报告成本效益或成本效用比或净收益/收益-成本的原创文章，这些文章关注的是ACMG列出的条件和基因的筛查（而不是治疗）。对文章进行筛选，分类为高危人群或一般人群，并由两位审稿人进行摘要。评估一般人群研究的实际成本效益措施（例如ICER），而评估目标人群研究是否至少提出一种方案具有成本效益（例如ICER每生命年（LY）或获得的质量调整生命年(QALY)≤100,000美元）。共纳入607项研究，并纳入32项相关研究。已确定的研究涉及不到三分之一（24项研究中的7项，29%）的AMCG疾病。24例中只有2例（8%）对普通人群筛查的成本效益进行了检查。ACMG建议回归的大多数遗传发现的成本效益尚未在经济学研究或在普通人群中筛查的背景下进行评估。个别研究没有直接解决WGS的成本效益问题。
The American College of Medical Genetics (ACMG) recommends that mutations in 56 genes for 24 conditions are clinically actionable, and should be reported as secondary findings after whole genome sequencing (WGS). Our aim was to identify published economic evaluations of detecting mutations in the general population or in targeted/high-risk populations in these genes and conditions and identify gaps in knowledge. A targeted PUBMED search from 1994 through November 2014 was performed and we included original articles reporting cost-effectiveness or cost-utility ratio or net benefits/benefit-cost focused on screening (not treatment) for ACMG listed conditions and genes in English. Articles were screened, classified as targeting a high-risk or general population, and abstracted by two reviewers. General population studies were evaluated for actual cost-effectiveness measures (e.g. ICER) while targeted populations studies were evaluated for whether at least one scenario proposed was cost-effective (e.g. ICER of ≤ $100,000 per life-year (LY) or quality-adjusted life-year (QALY) gained). A total of 607 studies were identified and 32 relevant studies were included. Identified studies addressed less than one third (7 of 24, 29%) of the AMCG conditions. The cost-effectiveness of screening in the general population was examined in only 2 of 24 (8%) conditions. The cost-effectiveness of most genetic findings that the ACMG recommends for return has not been evaluated in economic studies or in the context of screening in the general population. The individual studies do not directly address the cost-effectiveness of WGS.