A formal risk-benefit framework for genomic tests: Facilitating the appropriate translation of genomics into clinical practice
A formal risk-benefit framework for genomic tests: Facilitating the appropriate translation of genomics into clinical practice
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DOI：
10.1097/gim.0b013e3181eff533
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发表时间：
2010-11-01
影响因子：
8.8
通讯作者：
Burke, Wylie
中科院分区：
文献类型：
--
作者：
Veenstra, David L.;Roth, Joshua A.;Burke, Wylie
目的：基因组测试的评估往往具有挑战性，因为与常规护理相比，缺乏临床益处的直接证据，而且证据要求不明确。为了解决这些问题，这项研究提出了一个风险-收益框架，用于评估基因组测试与健康相关的效用。方法：我们结合了决策科学、结果研究和卫生技术评估等各种既定领域的方法来开发该框架。此外，我们考虑了基因组测试利益相关者的观点和案例研究。结果：我们开发了一个三层框架：首先，我们使用决策分析建模技术来合成数据，预测临床事件的发生率，并评估不确定性。其次，我们将基因组测试与健康相关的效用定义为通过临床事件发生率、预期寿命和质量调整的寿命年来衡量的健康结果的改善。最后，我们使用风险-收益政策矩阵展示了结果，以便于解释和实施这些分析的结果。结论：正式的风险-效益框架可能会加速低风险、提供可信临床益处的基因组测试的利用和基于实践的证据开发，同时阻止过早使用与常规护理相比效益很小或构成重大健康风险的测试。Genet Med 2010：12(11)：686-693。
Purpose: Evaluation of genomic tests is often challenging because of the lack of direct evidence of clinical benefit compared with usual care and unclear evidence requirements. To address these issues, this study presents a risk-benefit framework for assessing the health-related utility of genomic tests. Methods: We incorporated approaches from a variety of established fields including decision science, outcomes research, and health technology assessment to develop the framework. Additionally, we considered genomic test stakeholder perspectives and case studies. Results: We developed a three-tiered framework: first, we use decision-analytic modeling techniques to synthesize data, project incidence of clinical events, and assess uncertainty. Second, we defined the health-related utility of genomic tests as improvement in health outcomes as measured by clinical event rates, life expectancy, and quality-adjusted life-years. Finally, we displayed results using a risk-benefit policy matrix to facilitate the interpretation and implementation of findings from these analyses. Conclusion: A formal risk-benefit framework may accelerate the utilization and practice-based evidence development of genomic tests that pose low risk and offer plausible clinical benefit, while discouraging premature use of tests that provide little benefit or pose significant health risks compared with usual care. Genet Med 2010:12(11):686-693.