Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland.
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.
Ramsden
Simon C
SC
National Genetics Reference Laboratory (Manchester), St Mary's Hospital, Manchester, UK. simon.ramsden@cmmc.nhs.uk
Deans
Zandra
Z
Robinson
David O
DO
Mountford
Roger
R
Sistermans
Erik A
EA
Grody
Wayne W
WW
McQuaid
Shirley
S
Patton
Simon J
SJ
Stenhouse
Susan A R
SA
D020732:Cytogenetic Analysis / Q000379:methods / Q000592:standards*; D005260:Female; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D005838:Genotype; D006801:Humans; D007494:Ireland; D008297:Male; D009426:Netherlands; D010375:Pedigree; D011785:Quality Assurance, Health Care / Q000379:methods / Q000592:standards*; D006113:United Kingdom