Introducing diagnostic applications of ‘3Gb-testing’ in human genetics.
Collaborative effort to implement diagnostic genome sequencing in Europe.
Human R&D, Project Management, Innovation
FP7-HEALTH-2013-INNOVATION-1 – Grant Agreement ID 602269
1 September 2013 to 31 August 2015
The landscape of genetic testing is rapidly changing. The whole genome sequence analysis (3Gb-testing/WGS) will be an effective and financially viable alternative to targeted gene analysis. New technologies that allow efficient Sequencing of a Whole human Genome (WGS) in a diagnostic setting will have an enormous impact on diagnostic centers replacing many existing molecular and cytogenetic tests. Patients deserve to benefit from our vastly growing knowledge on functional genomics. WGS is the ideal method to bring these benefits to the public. However, it is critical to avoid mistakes with respect to ethics, quality, over or misinterpretation of data. It is essential that our society is prepared for the change once it is implemented. A key output of that project was a validated roadmap for the implementation of diagnostic genome sequencing in Europe. GenomeScan co-chaired the consortium and acted as a leader for dissemination efforts of the project.
Critical points for an accurate human genome analysis. White SJ, et al. Human mutation. 2017 Aug;38(8):912-21. doi: 10.1002/humu.23238
eBook: Technical Roadmap for Diagnostic Implementation of Whole Genome Sequencing. Janssen B, Bakker E, Thomassen E, Buermans H, den Dunnen J, Smets T, van Vooren S, Traeger-Synodinos J, Patton S, Leonard S, Cambon-Thomsen A, Eden M, Davison N, Lee K, Payne K, Scheffer H.
Product (service): The WGS service is now available for all GenomeScan customers
This project has received funding from the European Union’s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 602269.