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I reported a diagnosis using the Researcher Identified Potential Diagnosis form, but I have heard nothing. Has it gone back to the doctor? Did they think it was the answer?

Question

I reported a diagnosis using the Researcher Identified Potential Diagnosis form, but I have heard nothing. Has it gone back to the doctor? Did they think it was the answer?

Answer

Thank you very much for providing expert review and helping to find diagnoses for our participants. The form(s) 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. This will enable appropriate clinical validation of the results and will be done in batches for ease of processing within the Genomic Laboratory Hubs.

If there is urgency (for example there are urgent treatment issues to consider), and this wasn’t highlighted on the form please contact Service Desk.

We do not feed-back the results of clinician review directly to individual researchers, however the results of the Outcome Questionnaires will become available with subsequent data releases into the National Genomic Research Library (NGRL, the de-identified data from participants who consented for research), viewed in the Research Environment.

If you are interested in collaborating with the clinician to potentially publish the results, for example for a case series and/or because they reflect a novel finding, please consider requesting a collaboration with the clinician(s). This would also be the best route if you are able to offer specialist functional testing that may help to confirm or refute the pathogenicity of a variant.

It is important to note that some results may fall within the remit of Incidental Findings of clinical significance, as they are unrelated to the primary reason for genetic testing and in this case will be processed within the Genomics England Additional Findings workstream. Whilst many participants will have consented to receive additional findings, others have not consented and it is of utmost importance that we follow the participant’s wishes.

Last updated

This page was last updated on the 08 Nov 2024.