Key Points
• 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.
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Bakker, E. (2010). Emerging Technologies, Need for Quality Assessment. In: Kristoffersson, U., Schmidtke, J., Cassiman, J. (eds) Quality Issues in Clinical Genetic Services. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-3919-4_34
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