Purchase of Rare or Inherited Disease Test Directory testing for Welsh patients

Concepts

• cardiff
• pathology dissection instruments and supplies
• single gene testing
• genomic testing
• welsh patients
• patients
• welsh
• this genetic testing
• this testing
• testing

Location

Cardiff

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, MLPA and single gene testing 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.

Total Quantity or Scope

NWSSP Procurement Services intends to award a contract on behalf of Cardiff and Vale University Health Board, AWMGS, for the supply of whole exom sequencing (WES) for trio or singleton virtual panel analysis, MLPA and single gene testing from CeGAT. The contract is estimated to commence in June 2024, for a period of two years.

Award Detail

CPV Codes

• 33910000 - Pathology dissection instruments and supplies

Indicators

Legal Justification

All Wales Genomics Service (AWMGS) is commissioned by the NHS Wales Joint Commissioning Committee (JCC) (formally WHSSC) to provide genetic testing for Welsh patients which is equitable to the Clinical Indications stated in the NHSE Rare and Inherited Disease Test Directory. NHS E patients can currently access a range of Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) tests for rare and inherited diseases delivered from within the 7 Genomic Laboratory Hub service model. As a single service provider within Wales, there is necessarily a reliance on external services to enable delivery of the entire Test Directory. In-house service developments are ongoing to increase the number of genetic tests delivered from within AWMGS and there are significant repatriations planned but these will not go-live until 2025 – 27 (services will be introduced over a 18–24-month basis) following completion of the GLIMS and relocation projects. Due to a lack of testing capacity of NHS England laboratories to carry out the WGS based tests, reliance has been made on incumbent private provider CeGat. Given current organisational pressures to deliver an effective service, it has been noted that additional capacity be provided to supress demand. Equally, CeGAT have absorbed the sample courier responsibilities as part of the sample pathway, which has reduced the impact on AWMGS staffing. There have also been a number of MDT mechanisms established to ensure that reporting of patient results is consistent between AWMGS and CeGaT. This is critical to service delivery as it ensures equity for patients that are being referred to AWMGS and means that they are not at risk of receiving differing testing approaches depending on if testing was delivered in house or via an external laboratory. This level of bespoke service and customisation meeting the specification defined in the AWMGS standard operating procedures and consistent with UK best practice reporting guidelines is essential to delivering a robust and equitable, high-quality service. Given the bespoke attributes of the current contract, a direct award approach negates additional expenditure of the service and extended timelines.

Other Information

NOTE: To register your interest in this notice and obtain any additional information please visit the Sell2Wales Web Site at https://www.sell2wales.gov.wales/Search/Search_Switch.aspx?ID=141500. (WA Ref:141500)