European Journal of Human Genetics (2010) 18, S1–S19 & 2010 Macmillan Publishers Limited All rights reserved 1018-4813/10 www.nature.com/ejhg ARTICLE Approaches to quality management and accreditation in a genetic testing laboratory Sarah Berwouts1,3, Michael A Morris2,3 and Elisabeth Dequeker*,1,3 Medical laboratories, and specifically genetic testing laboratories, provide vital medical services to different clients: clinicians requesting a test, patients from whom the sample was collected, public health and medical-legal instances, referral laboratories and authoritative bodies. All expect results that are accurate and obtained in an efficient and effective manner, within a suitable time frame and at acceptable cost. There are different ways of achieving the end results, but compliance with International Organization for Standardization (ISO) 15189, the international standard for the accreditation of medical laboratories, is becoming progressively accepted as the optimal approach to assuring quality in medical testing. We present recommendations and strategies designed to aid genetic testing laboratories with the implementation of a quality management system, including key aspects such as document control, external quality assessment, internal quality control, internal audit, management review, validation, as well as managing the human side of change. The focus is on pragmatic approaches to attain the levels of quality management and quality assurance required for accreditation according to ISO 15189, within the context of genetic testing. Attention is also given to implementing efficient and effective quality improvement. European Journal of Human Genetics (2010) 18, S1–S19; doi:10.1038/ejhg.2010.104 Keywords: accreditation; quality system; quality management; genetic testing; ISO 15189; recommendations INTRODUCTION system (QMS). Furthermore, the provision of international workshops Quality requirements are particularly high in genetic testing, as tests contributes to the harmonization of QMS and approaches to are typically performed only once in a patient’s lifetime, increasing the accreditation throughout Europe. potential harm of an error, and the results potentially have major This report aims to combine the outcomes of the different work- implications not only for the tested individuals but also for their shops and is intended to serve as guidance and introduction to QMSs relatives. Many organizations, including Cystic Fibrosis Network, for genetic testing laboratories. Therefore, first insight is given on the European Molecular Genetics Quality Network and European Science setup, participants and methodology of the workshops. Second, the and Technology Observatory, have highlighted the need for improving key aspects of a QS are tackled and recommendations formulated, quality and harmonization in genetic testing services within Europe.1–4 based on the principles of International Organization for Standardiza- In addition, the Organization for Economic Cooperation and Devel- tion (ISO) 15189, with specific emphasis on practical implementation opment (OECD) Guidelines for Quality Assurance in Molecular Genetic and real-life examples. Testing aim to improve quality by recommending that ‘Laboratories reporting molecular genetic testing results for clinical care purposes QUALITY MANAGEMENT AND ACCREDITATION FOR should be accredited or hold an equivalent recognition’.5 As a result of GENETIC TESTING SERVICES these elements, the accreditation of genetic testing laboratories is Where to find the right and understandable information? shifting from being a ‘recommendation’ to becoming a ‘requirement’ The EuroGentest workshops on accreditation and quality management. in many countries throughout Europe. EuroGentest is an EU-funded Network of Excellence that intends to To support laboratories working towards accreditation and to structure, harmonize and improve the overall quality of genetic testing improve the understanding of quality assurance (QAu), interactive services.7 The project consists of five units addressing all aspects of workshops were developed, within the framework of the EuroGentest genetic testing: quality management, information databases, public Network of Excellence (EUGT NoE, FP6-512148, http://www. health, new technologies and education. Among the key outcomes of eurogentest.org).6 A successful format was achieved by integrating the past 5 years are the development of a programme of interactive expertise in both laboratory and quality management, and in learning workshops on quality management for people working in genetic and change management. Topics include accreditation, QAu, internal testing laboratories; the expansion of EQA schemes; a QAu database of audit, diagnostic validation, internal quality control (IQC), external validated data on EQA participation and accreditation, available in the quality assessment (EQA), management review (MR), software Orphanet database; and a series of information leaflets in different support for quality systems (QSs) and change management. The work- languages for patients and families about genetics and genetic testing. shops provide a unique forum for laboratories to share experiences Participation in the EuroGentest workshops on accreditation and to learn about developing and improving a quality management and quality management is open to laboratory directors, scientists, 1Biomedical Quality Assurance Research Unit, Department of Human Genetics, University of Leuven, Leuven, Belgium; 2Department of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland; 3EuroGentest Network of Excellence, Leuven, Belgium *Correspondence: Prof E Dequeker, Biomedical Quality Assurance Research Unit, Department of Human Genetics, University of Leuven, Herestraat 49, box 602, 3000, Leuven, Belgium. Tel: +32 16 34 58 81; Fax: +32 16 34 71 90; E-mail: [email protected] Approaches to quality management and accreditation SBerwoutset al S2 secretaries, technicians and quality managers, from cytogenetic, bio- United Kingdom, Germany, Ireland and the Czech Republic (marked chemical and molecular genetic testing laboratories across Europe. in italics in Table 1). Furthermore, countries hosting the workshops However, the content and topics of the workshops are mostly applic- have more participants, for example Spain, Italy, Greece and Austria able to all types of medical laboratories. It was decided from the (marked in bold in Table 1), revealing the value of holding workshops beginning to bring together laboratories that were already accredited, in different regions of Europe. At the start of the project, most of the working towards accreditation, and in the early stages of developing a attendants came from laboratories that were well known internation- QMS. To ensure active involvement, the number of participants is kept ally; with time, the diversity of participants and countries increased to a maximum of 30 people, with lower numbers for the most considerably. Since 2007, two workshops on different themes have interactive workshops on internal audit and the human side of change. been organized in parallel immediately before the European Society The workshop language is generally English, although regional work- for Human Genetics (ESHG) Congress (Nice, Barcelona and Vienna), shops have also been provided in French and Dutch. facilitating accessibility for interested people. Six different types of workshops were developed over the years. The Since 2006, the registration form includes non-compulsory ques- first type had broad aims and addressed implementing and living with tions on the professional role of participants, the accreditation status QSs, comparing the different standards for accreditation in Europe. of the laboratory and the genetic subspecialization (molecular genet- This workshop revealed a need for and an interest in information ics, biochemical genetics or cytogenetics). These data were used to technology (IT) support for QMSs in medical laboratories, which develop cases and exercises specifically adapted to the background and logically became the topic of the second workshop. Another crucial, level of experience of the attendees. The positions of participants but potentially difficult topic, internal auditing was the third theme. A (n¼305) varied from laboratory and department directors (32%) to fourth series was organized on ‘change management’, in which a senior scientists (26%), quality managers (18%), technicians (13%) specialist in the human and behavioural sides of change processes had and medical doctors (11%). Participants (n¼182) were divided the central role. Finally, two separate types of workshops were between accredited laboratories (31%), laboratories preparing for organized on more advanced elements of a QS, such as IQC, EQA, accreditation (28%) and laboratories at a very early stage of the quality indicators, MR and diagnostic validation. accreditation process (41%). When considering the different fields These workshops are successful and unique because of specific from which the participants of the workshops come from (n¼176), it teaching concepts and methodology, which include presentations, is clear that most of them work in molecular genetic testing labora- casework in small groups, open discussion and conclusions. Struc- tories (65%). Fewer participants came from cytogenetics (10%), tured questionnaires, audiovisual material, role-play and hands-on biochemical genetics (1%) or a combination of the different genetic work with software increase