RD Quickstart¶
The GMS Interpretation Portal enables users to review a GMS Rare Disease Referral in NGIS using a simplified workflow, 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, demonstrating the selection of pertinent variants and creation of the Summary of Findings. Detailed information on each step can be found in the following sections.
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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., following established guidelines within your lab) and review read level support in IGV.
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Flag any pertinent variants to be included in the
Summary of Findings. -
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¶
Decision Support Systems (DSS) offer more functionality (non-PASS variants, application of gene panels, ACMG scoring, granular approval workflows) that are not available in the Interpretation Portal. For example, DSS can be useful for cases requiring more detailed analysis or specific gene panel applications.
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 a Summary of Findings (SoF) in the DSS will result in the primary findings being sent from the DSS to the Interpretation Portal, where they can be downloaded as Summary of Findings HTMLs. The Reporting Outcomes Questionnaire for SoFs created in the DSS needs to be completed in the Interpretation Portal to close the referral.