The European Union faces the dual challenge of developing adequate standards for genetic testing while bridging national, social, and linguistic differences. Accordingly, the best description of the current quality assurance situation in the European Union is one of fragmentation; national policies differ widely on areas such as requirements for laboratory accreditation, clinical genetic requirements, and novel genetic test evaluation. Given the number and diversity of countries in the EU, it is understandably difficult to come to a consensus about how to synchronize quality assurance of genetic tests. The challenge for Europe appears to be one of harmonizing standards, so that not only are all genetic tests in the EU held to certain minimum standards, but laboratories performing genetic tests can also collaborate on issues such as best practices and rare genetic diseases across national borders.
The scope of genetic tests within the European Union is itself unclear. A recent search on the European Directory of DNA Diagnostic Laboratories (EDDNAL)found 353 laboratories performing diagnostic tests (as of June 2004), but a survey performed by the European Commission's Institute for Prospective Technologies (IPTS) for their seminal report, Towards Quality Assurance and Harmonization of Genetic Testing Services in the EU , suggests that the number may be much larger.
A lack of knowledge about the number of patients having tests performed across Europe is also acknowledged; however, the EU survey makes clear that genetic services and their usage are growing in the European Union. Largely, these tests are for monogenic (or single-gene) disorders, and their type is determined mostly by the genetic illnesses that are most prevalent within the community in question.
Quality assurance within genetic testing laboratories is guided largely by a network of external quality assurance providers, which provide laboratories with genetic test samples and feedback based on the laboratory's...