Quality assurance practices in Europe: a survey of molecular genetic testing laboratories

Abstract

In the 2000s, a number of initiatives were taken internationally to improve quality in genetic testing services. To contribute to and update the limited literature available related to this topic, we surveyed 910 human molecular genetic testing laboratories, of which 291 (32%) from 29 European countries responded. The majority of laboratories were in the public sector (81%), affiliated with a university hospital (60%). Only a minority of laboratories was accredited (23%), and 26% was certified. A total of 22% of laboratories did not participate in external quality assessment (EQA) and 28% did not use reference materials (RMs). The main motivations given for accreditation were to improve laboratory profile (85%) and national recognition (84%). Nearly all respondents (95%) would prefer working in an accredited laboratory. In accredited laboratories, participation in EQA (Po0.0001), use of RMs (P ¼ 0.0014) and availability of continuous education (CE) on medical/scientific subjects (P ¼ 0.023), specific tasks (P ¼ 0.0018), and quality assurance (Po0.0001) were significantly higher than in non-accredited laboratories. Non-accredited laboratories expect higher restriction of development of new techniques (P ¼ 0.023) and improvement of work satisfaction (P ¼ 0.0002) than accredited laboratories. By using a quality implementation score (QIS), we showed that accredited laboratories (average score 92) comply better than certified laboratories (average score 69, Po0.001), and certified laboratories better than other laboratories (average score 44, Po0.001), with regard to the implementation of quality indicators. We conclude that quality practices vary widely in European genetic testing laboratories. This leads to a potentially dangerous situation in which the quality of genetic testing is not consistently assured. Keywords: accreditation; genetic testing laboratory; quality assurance; survey INTRODUCTION By their very nature, genetic tests can have profound health consequences for patients and their families. They can confirm a genetic disorder, prevent or predict the risk of a future disorder, assist in therapy decisions or influence reproductive decision making. Consequently, incorrect results can lead to inappropriate or delayed treatment, or misdiagnosis resulting in, for instance, unnecessary mastectomy or termination of pregnancy. In addition, genetic tests are typically only performed once in an individual's lifetime, increasing the consequences of eventual errors. It is thus of utmost importance that systems are in place to assure accurate and reliable test results.The most complete system of laboratory quality assurance (QAu) system is accreditation, for which an authoritative independent body gives formal recognition that the laboratory is competent to carry out specific tasks. 1 ISO 17025 and ISO 15189 are the major standards for accreditation. 2,3 Certification is a further quality management system, typically based on ISO 9001. 4 Certification is a procedure by which a third party gives written assurance tha...

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“…It is strongly recommended that a diagnostic molecular genetics laboratory should be accredited according to ISO 15189 standards [18,19], alternative approaches would prefer a "requirement for accreditation of genetic laboratories, instead of a recommendation", as molecular genetics tests are extremely specific and the quality of these tests could be improved by accreditation [13,15,18,20].…”