Background
Info
This documentation aims to consolidate the following user guides into a single site:
- GMS Interpretation Portal guide
- Interpretation Portal Documentation
- 100K Cancer Portal guide (GUI BIO 001 Genomics England Guide to Interpretation Portal Cancer)
- Links to the exisiting 100K user guides
In addition, it provides updated links to new improved documentation for other applications in the Interpretation platform
Purpose¶
The purpose of this site is to provide NHS clinical scientists, clinicians, bioinformaticians a step-by-step guide to the Genomics England Interpretation Portal.
Scope¶
This site covers how users Interpretation Portal can:
- See an overview of referrals ready for NHS GLH review, and track overall referral status.
- Review findings from Interpretation Services such as Tiering and Exomiser.
- Download any available files and link out to Decision Support Systems.
- Complete a Reporting Outcomes questionnaire to close a referral.
- Save work in progress as a draft and return to it later e.g. when completing the Reporting outcomes questionnaire.
- Access 100,000 Genomes Project Primary and Additional Findings.
Target Audience¶
Genomic Laboratory Hub (GLH) staff handling the interpretation of Rare Disease and Cancer whole genome sequencing (WGS) data using the Genomics England Interpretation Platform.
Other Third Party Audience
The external audience for this document may include medical device regulators and associated agencies in the pursuit of medical device regulatory and standards certification including:
UK Competent Authority: (CAs) the Medicines and Healthcare Products Regulatory Agency (MHRA); Notified Bodies (NBs) such as BSI Group; NHS Digital; the NHS IT regulator in England and Wales This document may also be requested by existing and prospective Genomics England customers as part of their procurement process. All external distribution of the must be approved by a member of the Quality Improvements and Regulatory Affairs team prior to circulation.
Getting Started¶
GMS Interpretation Portal 100K Interpretation Portal
Additional Resources¶
Interpretation Platform Documentation
100K Rare Disease Analysis Guide
100K Cancer Documentation
Genomics England Rare Disease Genome Analysis Guide v2.0
Feedback¶
If you have any feedback on the Interpretation Portal please contact the Genomics England Service Desk at ge-servicedesk@genomicsengland.co.uk.