RD Reporting Outcomes Questionnaire

A Reporting Outcomes Questionnaire (RoQ), also known as an exit questionnaire, is generated in the Interpretation Portal. It gathers details on the decisions reported in a Summary of Findings. To close a referral in the Interpretation Browser, a RoQ must be completed for the latest SoF.

Collecting reporting outcomes enhances the knowledge base and allows continuous pipeline improvement. These outcomes are automatically integrated into the CVA knowledge base, accessible to all GLH users.

Complete a RoQ

Only one questionnaire per case is needed, usually against the latest SoF version. If a RoQ is completed and another SoF is generated, the case moves from closed (“Reported”) to “Pending Outcomes” and requires a new RoQ.

1. Navigate to the Referral page for your referral.
2. Scroll to the Summary of Findings section and click “Review” next to the “Download” button.
3. The reporting outcomes questionnaire will be available to complete.
4. Once completed, click “Submit” at the bottom of the page. A RoQ can be saved as a draft and completed later.

What does a RoQ include

The questionnaire displays variants from the associated SoF version.

The RoQ includes family-level and variant-level questions.

For “negative” reports (no variants), only family-level questions are presented.

To revise your RoQ, open it again as described, complete it, and resubmit. This version will override the previous one, as only one questionnaire can be stored per SoF version.

Auto-populate the ROQ

This feature auto-fills certain ROQ questions using previously entered responses from Congenica during decision-making. It retrieves responses from Congenica via Variant Interpretation Logs (VILs), which are then used to pre-fill corresponding sections in the ROQ.

Requirements:

• Applicable only to Small Variants with a decision in Congenica.
• Successful extraction of VILs for the variants from Congenica and their availability in the CVA.

If multiple SoFs have decisions against the same variant, the latest VIL will be used for auto-population.

Congenica to ROQ Mapping: A detailed guide on mapping questions and answers between Congenica and the RoQ is available in this PDF.

Video Tutorial

Watch the following demonstration video to learn how to use the Auto-populate feature in the Reporting Outcomes Questionnaire:

Additional details on the questions

Family Level Questions:

Have the results reported here explained the genetic basis of the family’s presenting phenotype(s)?

Do the combined variants explain the genetic basis of the family's presenting phenotype(s)? This asks if the case can be considered fully or partially solved.

Have you done any segregation testing in non-participating family members?

If so, provide details in the free text comments box below. Do NOT include identifying details. For example, “Proband’s maternal uncle also affected with ataxia and carries the variant in gene X” is acceptable; “Also tested Robert Smith for the variant in gene X” is not acceptable.

Variant Level Questions:

Did you carry out confirmation of this variant via an alternative test?
Did the test confirm that the variant is present?
Did you include the variant in your report to the clinician?
What ACMG pathogenicity score (1-5) did you assign to this variant?
Please provide PMIDs for papers which you have used to inform your assessment for this variant

Five questions are asked about each reported variant. Providing publications is not mandatory, but if used, please enter them here to add to CVA.

Is evidence for this variant/variant pair sufficient to use it for clinical purposes such as prenatal diagnosis or predictive testing?

Three questions are asked at the variant/variant pair level. Indicate if you have reported the variant or pair as having sufficient evidence for clinical purposes like prenatal or cascade testing.

Has the clinical team identified any changes to clinical care which could potentially arise as a result of this variant/variant pair?

Record any potential clinical outcomes identified with the clinical team, e.g., at the results MDT. If this information is unavailable, record it as unknown.

Did you report this variant/variant pair as being partially or completely causative of the family's presenting phenotype(s)?

Indicate if you included the variant or pair as directly causative (partially or completely) to the presenting phenotypes in the clinical report.