Nonstandard abbreviations: QA, quality assessment; CML, chronic myeloid leukemia; TKI, tyrosine-kinase inhibitor; IRIS, International Randomized Study of Interferon vs ST1571; MMR, major molecular response; IS, international scale; RT-qPCR, reverse-transcription quantitative PCR; EQA, external QA; EMQN
, European Molecular Genetics Quality Network.
Best Practice guidelines for molecular genetic testing of SCAs.
Since 2008, the Human Genetics Society of Australasia Molecular Genetics Quality Assurance Program (43) has offered 23 disease-specific PT modules in collaboration with EMQN and the CF European Network.
In European EQA programs, such as UKNEQAS, the CF European Network, and the EMQN, the participants are required to submit results in their usual clinical reporting format.
Many of the CAP surveys are graded based on the consensus of 80% of participants; if that level of consensus is not reached, the challenge remains ungraded and ''educational.'' Other providers, such as EMQN, provide numeric scores based on genotyping, interpretation, and reporting.
Over the past few years, the European Union (EU) has funded several initiatives on quality assessment for molecular genetics, including the EQALseq and EMQN programs.
In their respective reports, both EQUALseq (4) and EMQN (5) clearly demonstrate that there is room for improvement and that EQA is essential for assessing the quality of the molecular genetic tests being performed and the test reports being issued.
DNA sequencing is being routinely used in diagnostic EQA schemes for human genetics, e.g., through qualitycontrol networks such as the European Molecular Genetics Quality Network (EMQN) (14, 15).
Quality control in mutation analysis: the European Molecular Genetics Quality Network (EMQN).
The EMQN was formed in 1997 in response to concerns about the lack of provision of EQA schemes for diagnostic molecular genetics laboratories, to improve and harmonize EQA for molecular genetic testing in Europe.
Laboratories registered for the scheme on-line, using the EMQN website (6), and were allocated a unique identification number to allow anonymization of their participation to all but the EQA scheme organizer.
Final report: EMQN pilot external quality assessment scheme for DNA sequencing (2003).