The status of implementation of the OECD guidelines for quality assurance in molecular genetic testing in the German speaking area

Background: The objective of this study was to collect and analyze data regarding how molecular genetics laboratories deal in practice with quality assurance, terms of quality and quality requirements shown in the literature. Methods: A 40 multipart question survey based on the requirements of the OECD Guidelines for Quality Assurance in Molecular Genetic Testing 2007 was developed. Data from 144 molecular genetic testing laboratories (MGTLs) in German speaking areas were collected by a mail survey in September 2009 and analyzed with SPSS 15.0 and EXCEL. Results: In total, 144 MGTLs were contacted - 122 MGTLs in Germany, 13 MGTLs in Austria and nine MGTLs in Switzerland. A total of 48 MGTLs participated in the survey (total response rate=33.3%); however, nine of these MGTLs did not fill out the questionnaire owing to restructuring of their laboratory. The 39 responding laboratories reported that they provide four to 400 tests for disorders. Of the respondents, 64.1% indicated that they already have a quality system and 35.9% are in the planning process. Also, 54% of all responding laboratories issue reports of generally high quality, whereas 82.21% indicated that they participate in EMQN (European Molecular Genetics Quality Network) proficiency testing. All respondents required informed written consent prior to presymptomatic and predisposition testing, but six (15.4%) of the respondents declared that they offer prenatal diagnosis without obtaining written informed consent. Conclusions: This study revealed that a variety of stages exist in quality work. Clearly, the focus lies on output quality and integration of the OECD guidelines. The vast development in genetic testing methods indicates current and future challenges for practical quality work.