Elettra Ronchi , Organisation for Economic Cooperation and Development-Biotechnology Division, Paris, France
www.oecd.org/sti/biotechnology

On the basis of a comprehensive analysis of quality assurance practices in molecular genetic testing in 18 OECD countries, member countries reached agreement in 2004 to develop international best practice guidelines. The decision comes at a time of international convergence of opinion on the need for a broad international framework that will foster best practice and good governance in molecular genetic testing laboratories, for example, the European Parliament called, also in 2004, for an opinion on the need for legislation in the area.
The approach agreed by OECD member country experts – and by the Organisation's governing body – is to develop broad guidelines for action, within the scope of which national or regional initiatives – including, if deemed appropriate, national legislation – might subsequently be developed.
These guidelines offer short and succinct principles and best practices that relate to quality assurance systems, result reporting, education and training, and insofar as possible, clinical validity and utility. The guidelines should facilitate application of best practice in relation to human genetic and genomic testing, guarantee an international approach to exchange of clinical samples and data facilitating access to rare disease testing, and help meet the general objectives of OECD member countries in relation to best practices in health care.
The guidelines will be posted on the OECD website in June 2006 for broad consultation. By accessing this website, interested parties will have the opportunity to provide comments electronically on the text. The web site will include (1) information on the context for this project and on the procedure for participating in this consultative process, as well as requesting comments, (2) the relevant Parts of the Guidelines, and (3) contact information. It is intended that the duration of the consultative process will be approximately 6 weeks.Concurrent with the posting of the texts on the website, the OECD will also send to targeted stakeholders, by correspondence, a consultation package that consist of the elements described above.
The presentation will provide an overview of the guidelines and of the envisioned process of consultation.

Quality Assurance in European genetic laboratories
Anniek Corveleyn¹, Nick Nagels¹, Cécile Gaudebout², David Bishop¹, Sarah Berwouts¹, François Thuillier², Bruno Urbero², Ségolène Aymé², Els Dequeker¹ and Michael Morris^1
1EuroGentest, Leuven, Belgium
²Orphanet, Paris, France

Testing for genetic diseases has moved progressively from a predominantly research context into specialized clinical genetic laboratories. Concomitantly, there has been a greatly-increased attention to issues of quality control (QC) and assurance (QAu), particularly with respect to EQA and accreditation.
Existing initiatives collecting information on or providing support for QAu in genetic testing services are fragmented, and their continuity is not assured. The EU Network of Excellence EuroGentest is bringing together many initiatives to develop the necessary infrastructure, tools and resources to improve and harmonize the overall quality of genetic services throughout Europe.
Although a number of public websites provide lists of genetic testing laboratories and tests that are available, public information about QAu is sparse or absent. As a first step, we surveyed the current status of accreditation, certification and participation in EQA in European laboratories. The survey was distributed to more then 2000 contacts in 35 countries. To ensure the highest possible quality of the data, the collected information will be peer-reviewed prior to dissemination to laboratories and consumers via a European QAu database. The results will be presented.
With the new awareness of the central role of QAu, making this information available will benefit consumers, by facilitating informed choice of laboratory partners for performing tests, and genetics services, by facilitating selection of partners for referral of tests which cannot be performed locally and by valorizing their efforts and investment in QAu. This survey will provide the first overview of the status of QAu in European genetics laboratories.

Study of the variability of procedures in the use of commercial kits for CFTR mutation testing

Jana Camajova, Anniek Corveleyn, Florence Le Calves, Malgorzata Libik, Gert Matthijs, Milan Macek Jr., Els Dequeker
EuroGentest, Prague & Leuven, Czech Republic & Belgium

Cystic fibrosis (CF; OMIM 217900) is one of most commonly tested monogenic inherited disorders in European populations. The EuroGentest consortium (www.eurogentest.org) has decided to setup a pilot project whereby participants of the 2005 Annual CF EQA scheme (www.cfnetwork.be) were asked to report their experience with the routine use of commercial kits in CF DNA diagnostics. This project is a prerequisite for future validation of qualitative commercial diagnostic assays and for drafting of respective guidelines. A total of 125 from 183 contacted CF EQA laboratories (68%) reported their experience with the use of ELUCIGENE (Tepnel), INNO-LiPA (Innogenetics) and OLA CF assay (Abbott Molecular) kits, that comprise the majority of the European diagnostic market in this area. Participants were asked to fill in our questionnaire that was sent within the CF EQA scheme. We were particularly interested in changes of manufacturer-suggested protocols and problems with assay performance. Interestingly, we found that almost 50% of laboratories changed suggested commercial protocols, ie. 32% for ELUCIGENE, 41% for INNO-LiPA and 58% for OLA CF Assay. Most common changes involved modifications of the assay reagent volume, template DNA concentrations, as well as non-compliance with suggested thermocyclers and/or genescanners. Almost 23% of respondents found problems with assay sensitivity and specificity. In this regard it is important to stress that reported problems were not independently validated by us. Based on these preliminary data our next steps will include discussions of problems with respective companies (in particular of repetitive issues), sending feedback to survey participants and preparation of draft guidelines for the validation of qualitative commercial DNA diagnostic assays.