Documentation / Screening / Screening Modes

Screening Modes

Folklore records one of six screening strategies for provenance and interpretation. The active component profile is selected first by phenotype availability and otherwise by the patient's age group. The exact internal weights are proprietary; the clinical emphasis and current limitations are documented here.

Available Modes

Diagnostic

Used when the case has patient HPO terms or explicitly requests diagnostic screening. Phenotype relevance becomes the dominant clinical component and age relevance is not used in the component profile.

Neonatal Screening

Records a newborn screening strategy. Without patient HPO terms, the active profile is still selected from the precise patient age group.

Pediatric Screening

Records child or adolescent screening. Infant, child, and adolescent ages share the current pediatric component profile while retaining different age-relevance matching.

Proactive Adult

The default requested strategy for screening without a specific phenotype. Adult and elderly ages use distinct active profiles.

Carrier Screening

Records a reproductive carrier-screening intent. It currently uses the same age-derived component profile as other no-phenotype strategies rather than a dedicated carrier weight profile.

Pharmacogenomics

Records a pharmacogenomics intent. It currently uses the age-derived component profile rather than a dedicated pharmacogenomics weight profile.

Automatic Profile Selection

Patient HPO terms activate the Diagnostic profile regardless of the requested strategy. Without HPO terms, Folklore uses a neonatal, pediatric, adult, or elderly profile derived from age. When no usable age is supplied, Adult is the fallback age group. Proactive Adult is the default recorded strategy.

What Changes Between Profiles

Diagnostic screening emphasizes patient phenotype. No-phenotype profiles balance gene constraint, predicted effect, dosage sensitivity, consequence, candidate biallelic context, gene-disease burden, and age relevance. Age relevance has progressively greater influence in the adult and elderly profiles, while neonatal and pediatric profiles retain broader early-onset context.

Mode Labels Do Not Guarantee Dedicated Content

Carrier Screening and Pharmacogenomics are accepted and stored strategies, but they do not yet select dedicated component profiles. The result should therefore be interpreted from its actual component values, gene scope, and provenance rather than from the mode label alone.