Diagnostic Sequencing Consortium kicks off

The rapid development of new high-throughput and massively parallel DNA sequencing technologies has substantially reduced both the cost and the time required to sequence an entire human genome. Next-generation sequencing (NGS) technologies will be the cause of drastic changes in the field of molecular diagnostics, as it will soon be easier, quicker and cheaper to sequence an entire genome than to sequence a single gene. In the near future, Whole genome sequencing (the ‘3Gb-Test’) will be a more effective and a financially viable alternative for genetic diagnostic services.

The genetic prediction of disease and health status will pose a challenge to both laboratory and clinical geneticists, due to the wealth and complexity of the information obtained. Moreover, there is a need to discuss and determine the clinical utility of whole genome sequencing so that patients and families can receive correct advice and appropriate management. It is also important to preclude mistakes with respect to ethics, quality issues, and over- or misinterpretation of data.

ServiceXS is co-founder of the 3Gb-test consortium. This consortium obtained FP7 funding to support the implementation of whole genome sequencing throughout Europe and to help society prepare for this change. The consortium will organize meetings and a ring trial. We will write a technical roadmap for the European Committee.

On the 18th of October, the consortium held its first meeting in Leiden. At the ‘kick-off’ it was decided to determine gaps and needs for the implementation of 3Gb-testing and to widely disseminate our knowledge and views. We anticipate that the landscape of genetic testing will rapidly change during the coming years.