Emerging technologies, need for quality assessment

Abstract

Introduction of molecular genetics, both new disease specific tests and novel technologies, into the diagnostic service has been at an ad hoc and case-to-case basis for many years. • Concentred efforts of producing uniform guidelines including all test conditions has been very beneficial for the field, and has greatly reduced the number of diagnostic errors caused by technical failure/problems. • The last 4 years, a series of technologies both existing and new have been or are being evaluated and/or validated for diagnostic use. EuroGentest coordinated these activities to enable proper implementation of (novel) technologies into the genetic services. • The industries need access to accredited clinical laboratories and to well-characterized clinical samples to produce new tests. And the diagnostic laboratories need validated tests, guidelines and specific training. Both could benefit from an evaluation/implementation program as set up within Eurogentest.