Réseau de Médecine Génétique Appliquée du Fonds de Recherche en Santé du Québec, Québec, Canada.
Clin Chem Lab Med. 2010 Oct;48(10):1397-407. doi: 10.1515/CCLM.2010.291. Epub 2010 Jul 27.
The completion of the Human Genome Project has increased the pace of discovery of genetic markers for disease. Despite tremendous efforts in fundamental research, clinical applications still lag behind expectations, partly due to the lack of effective tools to systematically search for and summarize published data relative to the clinical assessment of new diagnostic molecular tests.
Through a collaborative process using published tools and an expert panel, we developed a detailed checklist of the evidence that needs to be collected or produced to evaluate the potential usefulness of a new molecular diagnostic test. This tool is called GETT, for Genetic testing Evidence Tracking Tool.
GETT allows 1) researchers to summarize the current evidence and to identify knowledge gaps for further research and; 2) stakeholders to collect data related to a given molecular test and improve their decision-making process. GETT comprises 72 clearly defined items/questions, grouped into 10 categories and 26 sub-themes, including an overview of disease epidemiology and genetics, the available diagnostic tools, and their analytical and clinical performances, availability of quality control programs, laboratory and clinical best practice guidelines, clinical utility, and impact on health care and psycho-social, ethical and legal implications. It also includes a summary of the evidence available and attempts to prioritise knowledge gaps related to the testing. We also compare GETT to other existing frameworks.
This systematic evidence-based tracking tool, which is more detailed than existing frameworks and provides clear definition for each item, will help streamline collection of the available evidence to appraise the potential for clinical application of new molecular diagnostic tests and prioritize research to produce the evidence-base relative to the clinical implementation of molecular diagnostic tests.
人类基因组计划的完成加快了疾病遗传标记的发现速度。尽管在基础研究方面付出了巨大努力，但临床应用仍落后于预期，部分原因是缺乏有效的工具来系统地搜索和总结与新诊断分子测试的临床评估相关的已发表数据。
通过使用已发表的工具和专家小组的协作过程，我们开发了一个详细的检查表，列出了需要收集或生成的证据，以评估新分子诊断测试的潜在有用性。这个工具被称为 GETT，即遗传测试证据跟踪工具。
GETT 允许 1）研究人员总结当前的证据并确定进一步研究的知识空白；2）利益相关者收集与特定分子测试相关的数据并改进其决策过程。GETT 包括 72 个明确界定的项目/问题，分为 10 个类别和 26 个子主题，包括疾病流行病学和遗传学概述、可用的诊断工具及其分析和临床性能、质量控制计划的可用性、实验室和临床最佳实践指南、临床实用性以及对医疗保健和心理社会、伦理和法律影响。它还包括对现有证据的总结，并尝试确定与测试相关的知识空白。我们还将 GETT 与其他现有框架进行了比较。
这个系统的基于证据的跟踪工具比现有框架更详细，并为每个项目提供了明确的定义，将有助于简化现有证据的收集，以评估新分子诊断测试的临床应用潜力，并优先进行研究，以产生与分子诊断测试的临床实施相关的证据基础。
