HGMD License Renewal

The requirement is for a comprehensive and searchable manually curated literature-based database of germline human genomic variants and their relationship with human disease, with links to associated peer reviewed scientific literature references and variant classification.

The successful provider will demonstrate class leading and significant experience in the area, peer reviewed publications illustrating utility in the diagnostic setting and that their database is up to date and covers the breadth of the peer-reviewed scientific literature.

The database must enable users to: 1.

Search extensively for rare and inherited disease associated variants; 2.

Search extensively for information relating to known variants associated with a particular disease; 3.

Search for gene and variant type, and specific variants, and link out to peer reviewed scientific literature; 4.

Have ease of accessibility and navigation of database pages; 5.

Download the database as a flat file with comprehensive variant annotation for integration into local bioinformatics pipelines that permits to link out to original scientific data sources.

1.

Suppliers are asked to describe, in detail, how their database meets EACH of the requirements numbered above.

Each requirement is essential, and must be met in full.

Suppliers may also choose to evidence how your database exceeds any, or all, of the requirements set out above.

Pre-market Engagement NHS England & Improvement are currently undertaking an options appraisal and as part of this have issued a Notice to the market to gauge supplier interest and capability in relation to continuing the delivery of this service.

Current thinking is that NHS England & Improvement will enter into a 36 month contract with an approximate total value of £2,200,000 exclusive of applicable VAT.

Due to budget pressures expected to impact over the term, we expect for costs submitted to demonstrate a significant reduction upon the forecast, reflecting the stability offered by a three-year term.

Please register your interest by 12pm 18/10/2021 Interested suppliers should read the details attached to the notice which specify further details about the requirement, how to register an interest in the possible procurement and the submission requirements for registering an interest.