Reviewing a GMS Rare disease referral¶
Danger
The clincial interpretation of referrals and variants should follow your local best practice guidelines
The GMS Interpretation Portal enables users to review a GMS Rare Disease Referral in NGIS using a simplified wrkflow, as well as using the DSS. In the following tabs, we offer an overview of these approaches.
Interpret your referral without DSS¶
The following video provides an overview of the simplified workflow users can follow to review a GMS Rare Disease Referral, including the selection of pertinent variants and creation of the Summary of Findings. Find additional information in the following tabs.
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Identify referral from the referral grid "To Be Reviewed" tab.
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Navigate to the Interpretation Browser page for that referral.
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Apply filters (e.g. by Tier and / or Exomiser score) to review candidate variants
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Interpret candidate variants using local best practices (e.g. ACMG scoring) and review read level support in IGV
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Flag any pertinent variants to be included in the Summary of Findings
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Generate a Summary of Findings and include in local patient record if required
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Complete the Reporting Outcomes Questionnaire
Interpret your referral with DSS¶
DSS provide more functionality (non-PASS variants, application of gene panels, ACMG scoring, granular approval workflows) that are not present in the Interpretation Portal.
If you wish To interpret your referral, and create a Summary of Findings for it using the DSS you can link to it from the Rare Disease referral overview page
Creating a Summary of Findings in the DSS
Creating an SoF in the DSS will result in the primary findings be sent from the DSS to the Interpretation Portal where they can be downloaded as a Summary of Findings HTMLs. The Reporting Outcomes Questionnaire for SoFs created in the DSS need to be completed in the Interpretation Portal to close the referral.