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RD Summary of Findings HTML report

A Summary of Findings (SoF), also known as a clinical report, is generated in the Interpretation Browser or DSS. It highlights reported variants relevant to the proband's clinical indication. Multiple SoFs can be generated for a referral.

All SoF HTML files for a referral are downloadable from the Referral Overview page.

Generate a SoF using the Interpretation Browser

Multiple Report Events

Do not select more than one report event for a single variant.

  1. Navigate to the Interpretation Browser page for your referral.
  2. Filter/score variants according to local best practice guidelines.
  3. Select the report event for the variant(s) to include in the SoF. Add interpretive comments, ensuring no PID is included as these are sent to CVA.

PubMed IDs

Articles will be linked to cases, variants, and genes in the SoF and available through CVA.

  1. Click the Create Summary of Findings button.
  2. Review variant-level comments and add any case-level comments in the "Interpretation" box.
  3. Provide PubMed IDs for any articles used during the interpretation.
  4. Click Submit.

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Upon SoF generation, the case moves to the “Pending Outcomes” tab. The SoF HTML is downloadable from the “Rare Disease Referral Page”, and the associated Reporting Outcomes Questionnaire can be completed.

If report generation errors occur, a message will appear at the top of the report. Report these errors to the Genomics England service desk (email ge-servicedesk@genomicsengland.co.uk or via the portal www.bit.ly/ge-servicedesk), with the referral ID, a description, and a screenshot if possible.

SoF HTML

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SoF HTML Key
# Section Description
1 Patient ID Patient ID for the proband.
2 Date Date and time of SoF generation.
3 Referral Information Details of the Referral Test.
4 Patient Information PID queried from TOMS.
5 Pedigree Table Details of family members and their consent.
6 Gene Panels Gene Panel Names and Versions used.
7 Details of Primary Findings Details of selected primary variants.
8 Tier Displays tier if tiered, “-” if untiered.
9 Allele Frequency Variant frequency details from CellBase.
10 Patients Patient genotypes for the selected variant.
11 Comments Comments added during interpretation (do not include PID).
12 Report Context Details and limitations of the pipeline version used.