I have found some variants that I think are probably causal but I need DNA/RNA to confirm that they are functional

Question

I have found some variants that I think are probably causal but I need DNA/RNA to confirm that they are functional

Answer

There are two possible routes for obtaining additional samples. The first mechanism for requesting samples, for example where this may help to confirm or refute variant pathogenicity, is to request a collaboration with the clinician(s) for the participant(s) with the relevant variant(s). Arranging a collaboration facilitates both the use of additional samples and obtaining consent and further information that may be required if a publication is planned.

If the clinician confirms they wish to collaborate, they can discuss with their patient(s) sending you directly the required samples, either from stored samples within the Genomic Laboratory Hub or fresh samples, as appropriate. They will need to follow your research ethics and local consent and procedures for samples collected for research.

We ask that additional data collected to help with variant interpretation be made available within the Research Environment, to avoid duplication of effort. To submit data to the Research Environment please make a Service Desk ticket request.

Please make clear that the information was generated through a researcher-clinician collaboration and using additional samples.

An alternative route for obtaining additional samples from participants is through submitting a request for access to stored samples, collected at the time of recruitment. Please make a Service Desk ticket form.

Please note that some samples will be reserved for larger scale projects run by Genomics England and where the data will be made available to the wider research community in the National Genomic Research Library (NGRL). In addition, some stored samples may not be suitable for the proposed analyses. Priority is likely to be given to larger scale projects, where there is greater diagnostic potential, those that will give results that benefit the wider research community, to help with the development of new technologies etc. There may also be some individual cases where this is an appropriate route; for example when it is not possible to obtain samples through a collaboration with a clinician because a participant is deceased and there are no stored samples in the clinical laboratory.

Requests will be considered on a case by case basis and will require internal review and approval by the Access Review Committee. We are working on these processes so this guidance may be updated over time.

Data generated from samples collected for an initiative must be submitted to the National Genomic Research Library (NGRL), which is accessed through the Research Environment. To submit data please make a Service Desk ticket request.

Please make clear that the information was generated using samples collected for the related initiative.

Where new diagnoses are suspected or confirmed, 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.

Thank you very much for your interest in finding additional diagnoses for our participants. Genomics England is working to facilitate clinician-researcher interactions and to help advance genomic knowledge, especially for the benefit of our participants.

Last updated

This page was last updated on the 08 Nov 2024.