De'Ath A, Rees M T, Pritchard D
UK National External Quality Assessment Service for Histocompatibility and Immunogenetics, Welsh Blood Service, Cardiff, United Kingdom.
Front Genet. 2023 Sep 18;14:1272618. doi: 10.3389/fgene.2023.1272618. eCollection 2023.
The UK National External Quality Assessment Service (NEQAS) provide an external proficiency testing (EPT) service for clinical laboratories. UK NEQAS for Histocompatibility and Immunogenetics (H&I) has been providing EPT schemes for over 45 years and has grown during this time to provide 19 EPT schemes. Accurate human leucocyte antigen (HLA) typing is critical to support safe clinical services, including transplantation, therefore high quality, relevant EPT schemes are required as part of a laboratory's quality assurance. This article reviews the development of the HLA typing EPT schemes, from the first HLA phenotyping scheme in 1975, via the first HLA genotyping scheme in 1992, through to the introduction in 2017 of HLA third field assessment results from next-generation sequencing technology. In addition, the introduction of EPT schemes to cover HLA associated diseases and pharmacogenetic reactions, including HLA-B27, HLAB57:01 and HLA-DQ for coeliac disease are discussed. The accuracy of laboratory EPT results for HLA phenotyping are >96% (2018-2022), HLA genotyping >99% (2020-2022), HLA-B27 testing >99% (2018-2022) and B*57:01 testing >99% (2017-2022). However, for HLA genotyping for coeliac disease 22%-46% of laboratories made errors in 2020-2022. On investigation, the high rate of unsatisfactory performance was attributed to laboratories lacking specific knowledge to interpret HLA genotyping results and accurately report HLA types for coeliac disease. A misleading commercial kit insert was also identified. The assessment of scheme results has uncovered several issues which have been addressed with the intention of educating participants and improving clinical services. The UK NEQAS for H&I EPT schemes have evolved over the past four decades to reflect changes in HLA typing technology, laboratory clinical practice and to cover post-analytical interpretative elements of HLA typing.
英国国家外部质量评估服务机构（NEQAS）为临床实验室提供外部能力验证（EPT）服务。英国组织相容性与免疫遗传学NEQAS（H&I）提供EPT计划已有45多年历史，在此期间不断发展，目前提供19种EPT计划。准确的人类白细胞抗原（HLA）分型对于支持包括移植在内的安全临床服务至关重要，因此高质量、相关的EPT计划是实验室质量保证的一部分。本文回顾了HLA分型EPT计划的发展历程，从1975年的首个HLA表型分型计划，到1992年的首个HLA基因分型计划，再到2017年引入基于下一代测序技术的HLA第三字段评估结果。此外，还讨论了涵盖HLA相关疾病和药物遗传学反应的EPT计划的引入，包括用于乳糜泻的HLA-B27、HLAB57:01和HLA-DQ。实验室HLA表型分型EPT结果的准确率>96%（2018 - 2022年），HLA基因分型>99%（2020 - 2022年），HLA-B27检测>99%（2018 - 2022年），B*57:01检测>99%（2017 - 2022年）。然而，在2020 - 2022年期间，对于乳糜泻的HLA基因分型，22% - 46%的实验室出现了错误。经调查，表现不佳的高比率归因于实验室缺乏解读HLA基因分型结果并准确报告乳糜泻HLA类型的特定知识。还发现了一份具有误导性的商业试剂盒说明书。对计划结果的评估发现了几个问题，已针对这些问题采取措施，旨在教育参与者并改善临床服务。在过去的四十年里，英国H&I的NEQAS EPT计划不断发展，以反映HLA分型技术、实验室临床实践的变化，并涵盖HLA分型的分析后解释要素。
