Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland

Simon C. Ramsden*, Zandra Deans, David O. Robinson, Roger Mountford, Erik A. Sistermans, Wayne W. Grody, Shirley Mcquaid, Simon J. Patton, Susan A.R. Stenhouse

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Molecular genetic techniques have entered many areas of clinical practice. Public expectations from this technology are understandably high. To maintain confidence in this technology, laboratories must implement the highest standards of quality assurance (QA). External quality assessment (EQA) is recognized as an essential component of QA. The United Kingdom National External Quality Assessment Service (UKNEQAS) for Molecular Genetics, first set up in 1991, is currently the longest provider of EQA to molecular genetic testing laboratories in the UK, The Netherlands, and Ireland. Errors in the scheme are sporadic events. However, evidence from this and other EQA schemes suggests that a residual error rate persists, which should be taken into account in clinical practice. This EQA scheme has evolved from the respective scientific bodies of the constituent countries and retains a strong emphasis on collective peer review. It is essential that the steps taken to ensure quality in this rapidly expanding field are clear and transparent to participants and public alike. We describe the procedures developed and the governance imposed to monitor and improve analytical and reporting standards in participant laboratories and we compare our experiences with those of equivalent EQA services in the United States.

Original languageEnglish
Pages (from-to)147-156
Number of pages10
JournalGenetic Testing
Issue number3
Publication statusPublished - 1 Sep 2006

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