I want to look at all the participants recruited from my local Genomic Medicine Service (GMS) and see if I can identify new diagnoses

Question

I want to look at all the participants recruited from my local Genomic Medicine Service (GMS) and see if I can identify new diagnoses

Answer

Researchers can review the participants recruited from a specific GMS within the Research Environment but are not allowed to attempt to re-identify any participants from the de-identified data within the National Genomic Research Library.

For potentially diagnostic findings relating to individual participants please complete a Researcher Identified Potential Diagnosis Form which can be found within the Research Environment.

This will be reviewed within the Diagnostic Discovery Pathway, our system for returning potentially diagnostic variants from researchers to the relevant clinician(s) within the NHS.

We are working on our processes for enabling clinician-researcher interactions and returning researcher-identified variants to clinicians. This guidance may therefore be updated over time. If you have large numbers of variants to return and would like to discuss please contact Service Desk.

Thank you for your interest in helping to find diagnoses.

Last updated

This page was last updated on the 08 Nov 2024.