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Sample review workflow

Congenica implements a three-phase review workflow:

  1. Primary review: identify, interpret and classify candidate variants
  2. Secondary review: check the findings of the Primary Review, and either approve or reject the decisions made
  3. Final review: authorise the review (Review Complete) or reject and roll back the case to Primary Review

Each patient sample has a status, that identifies the review phase the sample is currently in.

The status changes automatically when the patient sample is moved to the next phase.

Primary, secondary and final review

Although users have permission to perform any of these phases, for a given patient, Primary and Secondary review must be carried out by a different user. Congenica does not allow a user to approve their own decisions.

The GLHs will decide who should perform each review phase, as appropriate.

Looking at sample status

You can find your case by either linking out directly from the Interpretation Portal via the DSS button, or by navigating to the folder (pertaining to your GLH) where the case has been registered and searching for a case identifier. The status of each sample is displayed in the “Status” column of the Patient list (see Figure 1).

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Figure 1: The "Status" column displays the progress of the sample analysis in Congenica

Sample Statuses

Status Description
Processing Data received and currently being processed; not ready to review
Ready for review Processing complete; data can be viewed in Congenica
Primary review First review underway: interpretation and classification of candidate variants
Secondary review Second review of variants complete
Final review pending The sample has passed second review and is ready for authorisation.
Review complete Analysis authorised by the GLH but no report generated
Report available Primary findings report has been generated.
Table 1: Workflow statuses presented in the patient tab and their associated descriptions

Last update: 2023-01-13