遗传学检测技术的国际评估流程简介

Introduction of international evaluation process of genetic testing technology

目的通过梳理国际上现有遗传学检测技术评估项目的框架、流程,重点关注现有技术评估流程与其存在的困难,为建立适用于我国遗传学检测技术评估流程提供参考与建议。方法采用文献研究法归纳分析现有不同遗传学检测技术评估流程,进行总结、比较,并提出建议。结果目前已有多个国家及组织开展了遗传学检测技术评估项目,评估框架一般基于ACCE或HTA开发,而评估与决策流程在大体构架上类似,主要包括主题遴选、实施评估、汇报结果和提出建议等环节。遗传学检测技术评估仍面临证据有限、决策具有不确定性等困难。结论为建立适用于我国的遗传学检测技术评估流程,建议开展遗传学检测技术主题遴选,开展检测技术必要性和可行性预评估,进行正式评估及证据审查,进行结果应用与决策转化,制定定期审查与修订机制。

Objectives To provide a reference for the evaluation procedures of genetic testing technology applicable to China by combining the existing evaluation frameworks and procedures for genetic testing techniques globally, and also put forward design suggestions for the construction of evaluation procedures in China. Methods The literature research method was primarily used to summarize different evaluation progress, as well as put forward design suggestions. Results At present, numerous developed countries have organized genetic testing technology evaluation projects. The various evaluation frameworks developed were based on the ACCE or HTA framework. The evaluation and decision-making procedures were similar in general, including topic selection, evaluation implementation, results reporting and making recommendations. However, there still remained difficulties such as limited evidence and uncertainty in decision-making. Conclusions To establish the procedures of genetic testing technology applicable in China, the following specific procedures are recommended: selecting target genetic testing technology topics;analyzing necessity and feasibility of target testing technology evaluation;evaluating and reviewing the evidence;applying results and decision-making transformation;developing regular review and revision mechanisms.