Whole Exome Sequencing Library Preparation Solution

The All Wales Genomics Laboratory (AWGL) is seeking a library preparation solution for whole exome sequencing (WES) for a period of two (2) years with the option to extend for a further three (3) years at annual intervals. Presently, AWGL delivers clinical exome sequencing using DNA extracted from peripheral blood samples via a next generation sequencing panel (TruSight One). In order to meet clinical requirements, enable the development of precision medicine services within NHS Wales and allow effective use of capital investment there is a requirement to introduce whole exome sequencing for detection of exonic single nucleotide variants (SNVs) and indels. The expansion of clinical exome sequencing to whole exome sequencing is stated as one of the priorities in the Welsh Government ‘Genomics for Precision Medicine’ Strategy, which was published in 2017. To ensure all resources in AWGL are utilised effectively, all library preparation, sequencing, data processing and analysis will be performed by AWGL on Cardiff & Vale University Health Board premises. The WES solution must be capable of allowing implementation of the gene panels and WES based services described in the NHS England National Genomic Test Directory. Whilst Wales is a devolved nation with a devolved health system, this will allow AWGL to evolve their services in line with the Test Directory for rare and inherited disease if and when necessary.