Considerations for Designing a Prototype Genetic Test for Use in Translational Research
Considerations for Designing a Prototype Genetic Test for Use in Translational Research
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DOI：
10.1159/000236061
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发表时间：
2010-01-01
影响因子：
1.7
通讯作者：
Brody, L. C.
中科院分区：
文献类型：
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作者：
Wade, C. H.;McBride, C. M.;Brody, L. C.
背景：需要进行翻译研究，以探索人们对与常见健康状况有关的个人遗传易感性信息的反应。为了最大限度地提高这项研究的严谨性，需要将基因测试结果返回给研究参与者。目前，还没有一种既定的方法来指导选择用于这些目标的研究的遗传变异。方法和结果：为了解决这个问题，我们设计了一个过程来识别基因变异和健康状况，并将其包括在原型基因测试中，用于更大的研究努力，即多重倡议。这项探索的目的是促进研究，产生单独的基因测试结果，并返回给研究参与者。纳入标准是作为跨学科和迭代过程的一部分制定的，该过程考虑了对遗传与常见健康状况关联的证据支持的权重，在人类受试者研究中使用的适当性，以及专家同行评审员的建议。结论：选择过程旨在识别基因变异，用于有限的转化性研究，因此，不应被视为产生有效的临床试验。然而，这一应用选择过程的例子可能会为正在设计研究以通过返回个性化遗传信息来评估遗传易感性测试的影响的研究人员提供指导。随着基因组发现速度的提高，这样的研究将是引导这些信息转化为最大公共健康利益的关键。版权所有(C)2009 S.Karger AG，巴塞尔
Background: Translational research is needed to explore how people will respond to personal genetic susceptibility information related to common health conditions. Maximizing the rigor of this research will require that genetic test results be returned to study participants. Currently, there is no established method that guides the selection of genetic variants to be used in research with these objectives. Methods and Results: To address this question, we designed a process to identify gene variants and health conditions to be included in a prototype genetic test for use in a larger research effort, the Multiplex Initiative. The intention of this exploration was to facilitate research that generates individual genetic test results that are returned to study participants. Inclusion criteria were developed as part of a transdisciplinary and iterative process that considered the weight of evidential support for genetic association with common health conditions, the appropriateness of use in human subjects research, and the recommendations of expert peer reviewers. Conclusions: The selection process was designed to identify gene variants for the limited purpose of translational research and, therefore, should not be seen as producing a valid clinical test. However, this example of an applied selection process may provide guidance for researchers who are designing studies to evaluate the implications of genetic susceptibility testing through the return of personalized genetic information. As the rate of genomic discoveries increases, such research will be essential in steering the translation of this information towards the greatest public health benefit. Copyright (C) 2009 S. Karger AG, Basel