Documentation / Screening / Tier System
Screening Tier System
Screening tiers organize returned variants into review queues after component scoring and patient-context prioritization. The returned tier uses the final bounded score together with explicit classification- and phenotype-priority rules.
Tier Definitions
The first review queue. It includes findings promoted by strong classification or phenotype context and findings whose final score reaches the highest returned band.
The second review queue, including moderate phenotype support and selected inheritance-aware carrier demotions.
Findings that pass the configured minimum score but do not meet the higher-priority rules.
Findings below the default minimum score. They are normally omitted and require both a lower minimum-score setting and explicit Tier 4 inclusion.
What Can Raise Priority
Pathogenic and Likely Pathogenic classifications receive direct priority treatment.
A VUS carrying stored PVS1 evidence receives a dedicated prioritization treatment but remains a VUS.
High clinical phenotype tiers can promote a finding independently of the numeric score band.
Patient context can include ancestry, family history, sex-linked context, consanguinity, parental-sample context, pregnancy or family-planning context, and selected panel metadata.
The final score is capped at 1.0 before the returned tier is assigned.
Autosomal-Recessive Carrier Guard
A heterozygous finding in a gene recorded as autosomal recessive is returned in Tier 2 instead of Tier 1 when no compound-heterozygous candidate is supported. The current guard does not apply when the stored evidence includes PVS1. This is a review-priority safeguard, not a carrier interpretation.
Result Limits
Tier 1 is capped at 20 returned variants by default and can be configured up to 100. Findings beyond the configured Tier 1 cap are not automatically reassigned to Tier 2. The default minimum total score is 0.20, and Tier 4 is excluded by default.
Clinical Actionability Labels
Folklore also stores a separate actionability label: Immediate, Monitoring, Future, or Research. The current Immediate rule is limited to Pathogenic or Likely Pathogenic findings in the service's built-in 66-gene secondary-findings subset. Other P/LP findings are labeled Monitoring. Score bands can also place non-P/LP findings into Monitoring or Future.
These labels support display and triage. They do not determine diagnosis, reporting, surveillance, or patient management.
Tier Is Not Classification
A VUS can be Tier 1, and a clinically important P/LP finding can be subject to inheritance-aware prioritization. The ACMG class and its evidence trace remain authoritative and are never replaced by the screening tier.