Background: Given the potential powerful health
consequences of genetic test results, mechanisms
should be in place to assure the quality of the tests
and the interpretation of the data. In this context,
accreditation of genetic testing laboratories and
participation in external quality assessment (EQA)
schemes are encouraged within Europe as relevant
tools to assure and improve quality. The International
Organization for Standardization (ISO)
15189 standard for accreditation of medical laboratories
and the Organisation for Economic Cooperation
and Development (OECD) Guidelines
for quality assurance in molecular genetic testing
are essential documents to assist towards the implementation
of a quality management system.
Methods: Information on quality management
(QM) and quality assurance (QAu) of genetic
laboratories was collected after surveying participants
of the workshops on quality and accreditation,
organized by the EU-funded project EuroGentest.
Furthermore the EQA performance
data of the participants in the cystic fibrosis (CF)
EQA scheme, organized by the CF Network,
were compared over the years (2004–2008).
Results: Preliminary data show an increase of the
implementation of quality parameters and of the
amount of accredited laboratories in Europe. Further,
improvement of the quality of interpretation
and genotyping in genetic testing reports is noticed.
Conclusions: Regular participation in EQA
schemes and accreditation of laboratories both
contribute to continuous improvement and
monitoring of internal quality in laboratory performance.