The Research Environment
Genomics England Research Environment has one of the largest genomic data sets enriched with clinical data. We enable scientists from academia and industry to make discoveries, laying the foundations for personalised medicine for rare conditions and cancer.
The Clinical Research Interface (CRI) enables researchers and clinicians to collaborate effectively, ensuring that genomic research findings can be translated into clinical settings. Through analyses in the Research Environment, researchers may discover a genomic finding that could represent a potential diagnosis for a participant or may require contact with the participant’s clinical team to request additional information. This can be achieved through our CRI pathway.
Clinical Research Interface pathways
Diagnostic Discovery is a pathway that enables putative diagnostic variants identified through research activities to be shared with NHS laboratories.
Key aspects of the pathway include:
- the pathway is overseen by the Diagnostic Discovery Oversight Group, comprising clinicians and clinical scientists from each NHS Genomic Laboratory Hub (GLH) and is facilitated by NHS England and Genomics England
- new findings that meet the thresholds agreed with NHS England and NHS teams for being potentially diagnostic are returned to NHS GLHs directly by Genomics England for clinical evaluation and reporting
- the findings that have been returned to the NHS GLHs can be found in the submitted_diagnostic_discovery table within the Research Environment
Researchers may want to collaborate with the participant’s clinical team to:
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request further health information or patient consent to publish a paper about a group of patients with the same condition
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request further health information to help confirm whether a particular genetic variant is likely to be relevant
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offer participation in a patient registry or study
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offer an extra test to investigate in more detail whether a particular variant is likely to be causative or not
Information
You can submit your finding or contact the clinical team through our Contact Clinical Team and/or Report Potential Diagnosis Form available in the Research Environment. For additional information please check the Reporting potential diagnoses and contacting clinicians - Genomics England Research Environment User Guide.
Contact
For additional information regarding the Clinical Collaboration or Diagnostic Discovery pathways please email us on: [email protected].