I am working in a consortium with others treating the same disorder, can I discuss variants and phenotypes with other clinicians to identify diagnoses?

Question

I am working in a consortium with others treating the same disorder, can I discuss variants and phenotypes with other clinicians to identify diagnoses?

Answer

Data within the National Genomics Research Library is de-identified and researchers must not attempt to re-identify individual participants within the Research Environment. If a participant’s clinical team wish to request expert review from an individual Research Network researcher or group, they can complete a Contact Researcher Form.

Please note, the researcher must have access to the National Genomic Research Library through the Research Environment.

We are keen to foster collaborative efforts to help find diagnoses for our participants and to advance our knowledge. If after review you think there are potentially relevant variants please complete a Researcher Identified Potential Diagnosis Form 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. It is very important that any potential results are returned via Genomics England and not directly to individual clinicians.

Last updated

This page was last updated on the 08 Nov 2024.