Reagents and Bioinformatics analysis

Concepts

• laboratory reagents
• aberdeen
• reagents
• analysis
• bioinformatics
• metabolic conditions
• correct patient management
• bone marrow failure
• irreversible brain damage
• primary immune deficiencies

Location

Aberdeen City and Aberdeenshire: Aberdeen Royal Infirmary

Description

Next Generation Sequencing (NGS) kits

Total Quantity or Scope

Award value estimated based on previous spend for 2023-24 financial year. This is a direct award to the existing supplier to save a significant amount of rework that would be required if the genetics lab was to switch to an alternative supplier. This will cover the spend for 2024-25 financial year. It is vital that the supply of these items is uninterrupted as any delay will impact on patient care including cancer surgery / treatments, stem cell transplants for patients with primary immune deficiencies and bone marrow failure and correct patient management to prevent irreversible brain damage in metabolic conditions.

Award Detail

Award Criteria

CPV Codes

• 33696500 - Laboratory reagents

Legal Justification

We have a number of services within the department that use Next Generation Sequencing (NGS) kits supplied by SOPHiA Genetics. These services are funded by National Services division (NSD) and the Aberdeen laboratory provides National services for Hereditary Breast, Ovarian and prostate cancer, Cardiac arrhythmias and Whole exome sequencing (for metabolic, gastrohepatology, chromosome breakage / inherited bone marrow failure and eye disorders) using these SOPHiA kits. These are essential established reagents used in these testing pathways, having previously undergone extensive validation processes within the laboratory. Purchase of alternative reagents would involve delay to testing as additional extensive validation work would need to be undertaken before use. An integral bioinformatics solution, SOPHiA DDM, is included in the price of these SOPHiA kits which provides cost-effective, streamlined analysis for these patient samples. In addition, SOPHiA DDM is used to analyse NGS data for other rare and inherited conditions using tailored analysis pipelines. This includes Primary Immune Deficiencies, Familial Hypercholesterolaemia and tumour testing for metastatic prostate cancer. This is charged on a cost per sample upload basis and allows clinical scientists to analyse the data in an efficient manner without the need for specialist bioinformaticians. Purchase of bioinformatics services from another provider would take a significant amount of time for the validation work required to ensure accurate results are obtained and would incur significant costs for extensive validation. Furthermore, additional staff would be required to perform the bioinformatics processes that would be required in the absence of the SOPHiA DDM platform for all of the national genetics services mentioned above. It is vital that the supply of these items is uninterrupted as any delay will impact on patient care including cancer surgery / treatments, stem cell transplants for patients with

Other Information

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