Documentation / Screening / Age-Aware Prioritization
Age-Aware Screening Prioritization
Age relevance helps order findings according to when the associated gene-disease context is most useful for review. It does not decide whether a condition is penetrant, reportable, or actionable for an individual patient.
Age Groups
| Group | Operational Range | Screening Context |
|---|---|---|
| Neonatal | 0-28 days | Early-onset and time-sensitive neonatal context. |
| Infant | 29-365 days, or age_years below 1 | Accepts neonatal and pediatric panel relevance. |
| Child | 1 to under 12 years | Pediatric panel relevance and childhood-onset fallback context. |
| Adolescent | 12 to under 18 years | Accepts both pediatric and adult panel relevance. |
| Adult | 18 to under 65 years | Adult panel relevance and adult-onset fallback context. |
| Elderly | 65 years and older | Adult panel relevance with a distinct elderly component profile. |
Day Precision Protects the Neonatal Boundary
When age in days is available, 0-28 days maps to Neonatal and 29-365 days maps to Infant. Year-based age is used afterward. If neither value is usable, the service falls back to Adult.
Panel Context Takes Precedence
A selected panel entry can specify neonatal, pediatric, adult, or all-age relevance. Matching entries receive stronger age context; non-matching panel genes remain in scope with a conservative value rather than being discarded. All-age entries retain a minimum relevance across age groups. Panel priority and available ClinGen gene-disease validity metadata also contribute to this context.
Fallback Categories
When no panel metadata is available, Folklore uses curated early-onset, childhood, metabolic, adult cancer, cardiac, carrier, and secondary-findings categories. The current built-in secondary-findings subset contains 66 unique gene symbols. It is not the complete 81-gene ACMG SF v3.2 list despite the legacy internal label.
The exact internal values assigned to these categories are proprietary. The category and resulting age-relevance component remain visible for interpretation.
Interpretation Limits
A lower age-relevance value does not mean that the variant is benign or clinically irrelevant.
Age relevance does not model penetrance, age of onset, competing risk, or individual treatment eligibility.
Panel curation can change over time. Review the panel and analysis provenance used for the result.
Diagnostic cases with patient HPO terms use the Diagnostic profile, where phenotype replaces age relevance as the dominant contextual signal.
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