1. INTRODUCTION

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1.1 BACKGROUND

The Permanent Working Group "Cytogenetics and Society" of the European Cytogeneticists Association (E.C.A.) prepared these guidelines as a quality framework for cytogenetic laboratories in Europe in collaboration with EU sponsored Network of Excellence, 'Eurogentest' workpackage 1.4 (external quality assessment in cytogenetics). It is hoped that this document will lead to the establishment of common guidelines and standards that can be used as a reference manual in all European countries. This is particularly applicable to those countries without national guidelines, as they aim to achieve and maintain high standards. The adoption of this document by E.C.A. will facilitate this process.

These guidelines are intended to assist in the development of national standards. Cytogenetic practises and regulations differ throughout Europe so in some instances these guidelines may not be in accordance with national/federal laws and regulations. In such cases, those regulations already form the basis upon which the national standards operate.

These guidelines take into account the existing quality assessment (QA) schemes, good laboratory practice (GLP) documents, accreditation procedures and protocols from different countries, as well as international policy documents. This document includes aspects of quality control and assurance for most of the routine methods currently employed by cytogenetic laboratories. The following standards should be considered as minimum acceptable criteria, and therefore, any laboratory consistently operating below the minimum standard may be in danger of failing to maintain a quality service and satisfactory performance over an extended period of time. They should also be seen as guidance for certification and/or accreditation of cytogenetic laboratories.

In view of rapidly changing practices and technology, the guidelines will be revised regularly by the Working Group. The formation of European external quality assessment (EQA) network is also strongly endorsed. As some genetic tests could be performed with a variety of technologies any EQA programme must take this into account. Such an example could be the analysis of Prader-Willi syndrome in which the genetic analysis would be performed more accurately using a molecular genetic technique, than by cytogenetic analysis. Similarly, when looking for small deletions/duplications FISH analysis or molecular genetic techniques may be more appropriate to detect the abnormality than routine chromosomal analysis. Both cytogenetic services and cytogenetic EQA-programmes must therefore keep up to date with advancing technologies and in some cases this will involve a shift from a cytogenetic to a molecular genetic application.

At the end of this document is attached a list of national and international guidelines and policy documents as well as the other documents consulted in preparing these guidelines. This list is not exhaustive and as this is a rapidly changing area in genetics, the authors recommend that individuals working in this field keep abreast of the current literature and guidelines.

1.2 GENETIC COUNSELLING

The human genome is a fundamental element of personal and familial identity. Unlike other medical analysis, genetic tests, including cytogenetic studies, have broader implications on a psychological, social and reproductive level. Therefore, a vital component in constitutional cytogenetic testing must be referred by a medical doctor, nurse or a senior scientist trained in the genetics field in order to ensure appropriate expert counselling before and after testing. All genetic testing should be done with informed consent.

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Last changed: 2008-02-05