Provision of WES Trio and Singleton Virtual Panel Analysis for Welsh Patients

Tender description

In-line with All Wales Medical Genomic Service’s (AWMGS) commissioning model, AWMGS will procure from CeGaT whole exom sequencing (WES) for trio or singleton virtual panel analysis for patients where this testing cannot be accessed within the NHS E laboratory network. This genetic testing will ensure equity of access to genomic testing for Welsh patients and meet their need to seek a timely genetic diagnosis for their rare or inherited disease. Lot 1: NWSSP Procurement Services intends to award a contract on behalf of Cardiff and Vale University Health Board, AWMGS, for the supply of WES single and trio based testing from CeGAT. The contract is estimated to commence in July 2021, for a period of two years. The first year’s delivery will be capped at 175,000 GBP and reviewed to ensure that value for money is being achieved through the pick-up rate of pathogenic findings as a means of ensuring appropriate referrals and use of this bespoke service. The second year’s service will be capped at estimated 100,000 GBP assuming AWMGS are able to deliver in-house WES-based testing for Welsh patients within 2022/23 as currently planned.