Review Diagnostic Discovery Results¶
Researchers working within the Genomics England Research Environment (RE) may discover new genomic findings that could represent a diagnosis for a participant. If such findings are identified through Genomics England internal R&D work, these will be delivered when appropiate to the NHS GLHs.
This page is designed to outline the process by which users from GLHs should navigate towards closing Diagnostic Discovery cases in the 100k Interpretation Portal after receiving the results from Genomics England. The following video provides an overview of the process that users can follow to update this cases.
- Find and select your case of interest under the 'Reported Cases' tab
- Navigate to the Interpretation Browser
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Locate the reported variant, either:
- Directly if it appears in the interface
- Manually add it using the 'Add variants from VCF' function
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Click 'Create Summary of Findings' to generate a new report against the specific variant you are reviewing and fill the ‘Reporting Outcomes Questionnaire’ to close the case.
Attention
If you can't extract the desirable variant using the ‘Add variants from VCF’ feature, follow these steps:
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Click on ‘Create a Summary of Findings (0)’
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When filling out the ‘Rare Disease Reporting Outcomes’, add:
- Have the results reported here explained the genetic basis of the family’s presenting phenotype(s)?: Yes
- Additional Comments: “Add the variant details” including the chrom:pos:reference:alternate and associated service desk ticket if appropriate.
Attention
If you require support in inputting Diagnostic Discovery results please submit a Service Desk ticket, explaining that this relates to a Diagnostic Discovery via ge-servicedesk@genomicsengland.co.uk, and we can support in closing them on your behalf.