QA provision in genetic testing laboratories needs continuous updating. Genetics and genomics evolve terribly fast, and the implementation and validation of new technologies is a challenge (and can become a burden) for the individual laboratories. This is further complicated by the fact that genetic testing is a broad area as it covers both screening and diagnostic testing for genetic defects.

Unit 3 Objectives

Unit 3 will explore new and emerging technologies and assist diagnostic laboratories to keep pace with new developments. Continuous improvement and implementation of new technologies into current practice are cornerstones of best practice. A close interaction with the manufacturers and industries is a requisite.

The target group ranges from laboratories that offer pre-implantation testing, prenatal tests and to those that offer postnatal testing. Among the latter group, not only monogenetic disorders need to be considered, but also risk factors or modifier genes should be included, expanding the scope towards pharmacogenetics (PGX) and nutrigenomics (NGX, nutritiogenomics in some recent publications). Furthermore, new technological developments increasingly lead to the investigation of the whole genome – BAC and SNP arrays have rapidly been implemented in diagnostics, even for prenatal and pre-implantation analysis, and whole genome sequencing platforms will follow suit - which raises major challenges in terms of interpretation and unintentional findings. The validation will largely be done in conjunction with other networks, like FP7 TECHGENE.

Work packages

Work package 9 New and emerging technologies in genetic testing

Work package 10 Pre-implantation genetic diagnosis and gamete testing (PGD & PGS)

Work package 11 Non invasive prenatal diagnosis (NIPD)