Documentation / Screening / Screening Modes
Screening Modes
The screening mode determines how the seven component scores are weighted. Different clinical scenarios require different prioritization strategies. A diagnostic case with known symptoms should emphasize phenotype matching, while a proactive adult screening should emphasize cancer and cardiac gene relevance.
Available Modes
Diagnostic
Patient has HPO phenotype terms. Phenotype matching dominates scoring -- variants in genes matching the patient's symptoms are strongly prioritized.
Neonatal Screening
Newborn screening program (0-28 days). Emphasizes early-onset disease genes, treatable metabolic conditions, and gene constraint.
Pediatric Screening
Child and adolescent screening. Similar emphasis to neonatal with broader childhood-onset gene coverage.
Proactive Adult
Adult health screening without specific symptoms. Emphasizes cancer predisposition, cardiac genes, and age-appropriate actionable findings. Default mode.
Carrier Screening
Recessive carrier identification for reproductive planning. Focuses on common carrier conditions.
Pharmacogenomics
Drug response variant screening. Focuses on pharmacogenomically relevant genes.
Weight Profiles
Each mode assigns different weights to the seven scoring components. All weights sum to exactly 1.0. The dominant weight in each profile is highlighted.
| Component | Diagnostic | Neonatal | Pediatric | Adult | Elderly |
|---|---|---|---|---|---|
| Constraint | 0.20 | 0.25 | 0.25 | 0.20 | 0.15 |
| Deleteriousness | 0.20 | 0.20 | 0.20 | 0.25 | 0.20 |
| Phenotype | 0.40 | 0.10 | 0.10 | 0.10 | 0.10 |
| Dosage | 0.10 | 0.15 | 0.15 | 0.10 | 0.10 |
| Consequence | 0.05 | 0.10 | 0.10 | 0.10 | 0.10 |
| Compound Het | 0.05 | 0.05 | 0.05 | 0.05 | 0.05 |
| Age Relevance | 0.00 | 0.15 | 0.15 | 0.20 | 0.30 |
Automatic Mode Selection
When the clinician provides HPO phenotype terms, Diagnostic mode is automatically selected regardless of the requested screening mode. This ensures that phenotype matching always receives the highest weight when symptom data is available. Without HPO terms, the selected mode's weight profile is used. The Proactive Adult profile is the default when no mode is specified.
Design Principle
Age relevance weight increases with patient age: 0.00 (diagnostic), 0.15 (neonatal/pediatric), 0.20 (adult), 0.30 (elderly). This reflects the clinical reality that older patients benefit most from narrowly actionable findings, while younger patients warrant broader screening. In diagnostic mode, phenotype match replaces age relevance entirely as the dominant signal.