Full Interpretation of Whole Genome Sequencing GMS Casesa

Concepts

• cambridge
• laboratory services
• gms interpretation portal
• gms interpretation
• gms casesa
• wgs gms cases
• gms
• full interpretation of whole genome sequencing gms casesa
• full interpretation
• interpretation portal none

Location

Cambridge

Description

Full interpretation of WGS GMS cases from initial access via GMS Interpretation portal , including final report and summary of findings back to interpretation portal

Award Detail

CPV Codes

• 71900000 - Laboratory services

Indicators

Legal Justification

Congenica is the national provider for the decision support software for the national genomic medicine service in England, with its software platform supporting analysis and interpretation of whole genome sequencing data for rare disease patients. The genomic data is processed by Genomics England and available for interrogation by NHS clinical scientists onto the Congenica platform. Being the national provider, the Congenica staff have in-depth knowledge and competency to perform the tasks against the required protocol and there is no other provider with direct access to data or ready knowledge of the analysis process and NHS requirements. Given the urgency of resolving the NHS backlogs of genomic tests, developing a data-sharing and analysis process with another provider would significantly delay this project, therefore Congenica is the sole provider appointable for this requirement