Kroese Mark, Burton Hilary, Whittaker Joanne, Lakshman Rajalakshmi, Alberg Corinna
PHG Foundation, Strangeways Research Laboratory, Cambridge, UK.
Public Health Genomics. 2010;13(7-8):538-43. doi: 10.1159/000294278. Epub 2010 Mar 15.
The UK Genetic Testing Network (UKGTN) established a process for the evaluation of genetic tests for entry onto the National Health Service (NHS) Directory of Molecular Genetic Testing. The Network requested the development and piloting of a prioritization framework that could be used for the commissioning of genetic tests by the NHS.
A selected working group developed and piloted a multi-criteria prioritization process using 10 genetic tests evaluated by the UKGTN.
The framework was able to rank the 10 genetic tests used in the pilot. The rankings were also consistent with the commissioning recommendations for these genetic tests by the UKGTN.
A set of criteria for the prioritization of genetic tests has been developed. The results from the pilot suggest that the methodology is valid and robust but requires considerable resources to implement. Further development of the process is needed before the framework could be used to influence commissioning decisions for clinical genetic services in the NHS.
英国基因检测网络（UKGTN）建立了一个评估基因检测的流程，以纳入国家医疗服务体系（NHS）分子基因检测目录。该网络要求开发并试行一个优先级框架，用于NHS对基因检测的委托安排。
一个选定的工作组使用UKGTN评估的10项基因检测开发并试行一个多标准优先级流程。
该框架能够对试点中使用的10项基因检测进行排名。这些排名也与UKGTN对这些基因检测的委托安排建议一致。
已制定了一套基因检测优先级标准。试点结果表明，该方法有效且稳健，但实施需要大量资源。在该框架可用于影响NHS临床基因服务的委托安排决策之前，还需要对该流程进行进一步开发。
