Biometric Research Branch, Division of Cancer Treatment and Diagnosis, National Cancer Institute, National Institutes of Health, Room 5W130, MSC 9735, 9609 Medical Center Drive, Bethesda, MD 20892-9735, USA.
BMC Med. 2013 Oct 17;11:220. doi: 10.1186/1741-7015-11-220.
High-throughput 'omics' technologies that generate molecular profiles for biospecimens have been extensively used in preclinical studies to reveal molecular subtypes and elucidate the biological mechanisms of disease, and in retrospective studies on clinical specimens to develop mathematical models to predict clinical endpoints. Nevertheless, the translation of these technologies into clinical tests that are useful for guiding management decisions for patients has been relatively slow. It can be difficult to determine when the body of evidence for an omics-based test is sufficiently comprehensive and reliable to support claims that it is ready for clinical use, or even that it is ready for definitive evaluation in a clinical trial in which it may be used to direct patient therapy. Reasons for this difficulty include the exploratory and retrospective nature of many of these studies, the complexity of these assays and their application to clinical specimens, and the many potential pitfalls inherent in the development of mathematical predictor models from the very high-dimensional data generated by these omics technologies. Here we present a checklist of criteria to consider when evaluating the body of evidence supporting the clinical use of a predictor to guide patient therapy. Included are issues pertaining to specimen and assay requirements, the soundness of the process for developing predictor models, expectations regarding clinical study design and conduct, and attention to regulatory, ethical, and legal issues. The proposed checklist should serve as a useful guide to investigators preparing proposals for studies involving the use of omics-based tests. The US National Cancer Institute plans to refer to these guidelines for review of proposals for studies involving omics tests, and it is hoped that other sponsors will adopt the checklist as well.
高通量“组学”技术可生成生物样本的分子谱,已广泛用于临床前研究以揭示分子亚型并阐明疾病的生物学机制,也用于临床标本的回顾性研究以开发数学模型来预测临床终点。然而,将这些技术转化为临床测试,以便为患者的管理决策提供指导,进展相对缓慢。确定基于组学的测试的证据是否足够全面和可靠,以支持其已准备好用于临床应用的说法,甚至支持其在临床试验中进行确定性评估(其中可能用于指导患者治疗),这可能具有一定难度。造成这种困难的原因包括这些研究的探索性和回顾性性质、这些检测的复杂性及其在临床标本中的应用,以及这些组学技术生成的非常高维数据中固有地存在许多潜在陷阱,这些都为数学预测模型的开发带来了困难。在这里,我们提出了一个检查表,用于评估支持将预测因子用于指导患者治疗的临床应用的证据。其中包括与标本和检测要求、预测模型开发过程的合理性、对临床研究设计和实施的期望以及对监管、伦理和法律问题的关注相关的问题。建议的检查表应作为研究人员准备涉及使用基于组学的测试的研究提案的有用指南。美国国立癌症研究所计划参考这些指南来审查涉及组学测试的研究提案,希望其他赞助商也采用该检查表。