If I think I have found a variant that I believe is pathogenic, who should I tell?

Question

I have found a genetic variant that is either absent from the tiering data or else it is in there but only tier 3 so I am not sure that the clinical team will have noticed it. However, because of my expertise in this gene or disease, I strongly believe that this variant is causing the participant's condition. How can I tell the relevant clinicians so they can consider it as a candidate causal variant?

Answer

You can use the Airlock tool to report clinical findings. Go into Airlock and choose the Diagnostic Discovery/Clinical Collaboration form. You can either contact a clinician with the aim of forming a collaboration, or you can submit your findings directly to Genomics England. The form contains a number of fields where you can explain exactly what you are trying to report as clearly and in as much detail as possible. This will be sent to our clinical research team to review, who may pass your request on or may come back to you with some queries.

Last updated

This page was last updated on the 04 Jan 2024.