Event - Workshop Quality Control at the ESHG: Validation - E.Dequeker, M. Morris

Content

Validation, defined as the “confirmation, through the provision of objective evidence, that the requirements for a specific intended use or application have been fulfilled (ISO 9000:2000), is an essential element of quality assurance in diagnostic laboratories. Essentially, all laboratory procedures should be validated before application to real-world situations; this is indeed a formal requirement of most international (e.g. ISO17025, ISO15189) and national (e.g. CPA, CCKL) accreditation standards applicable to medical laboratories. Although a considerable literature concerning validation exists in some laboratory disciplines, such as food science, toxicology or clinical chemistry, requirements and approaches to validation in medical genetics are less well defined or understood. Reasons for this include the rapid emergence of tests, the relatively low numbers of samples that are processed, the qualitative nature of many genetic tests, as well as the fact that quality management and accreditation are only now being implemented in many laboratories.

This workshop will present the simple concepts of diagnostic test validation, which will be illustrated by real-world examples of test validation as performed in expert laboratories around the world. The aim is to provide a clearer understanding of the requirements for diagnostic validation, and to help laboratories find successful but pragmatic approaches to validating their own tests. Validation of diagnostic tests

Agenda

- Introduction: principles of diagnostic validation
M. A. Morris, Geneva, Switzerland
- Sequencing and MLPA under diagnostic rules!
D. du Sart, Victoria, Australia
- Diagnostic Validation of MSH6 mutation scanning in the NGRL (Manchester)
R.G. Elles, Manchester, U.K.
- Technical validation of a system for cystic fibrosis newborn screening
M. J. Somerville, Edmonton, Canada
- Validation of CE-marked diagnostic kits
G. Callaerts, Innogenetics
- Discussion