Documentation / AI Clinical Assistant / Clinical Interpretation
Clinical Interpretation
Helix AI can generate a comprehensive clinical genomic interpretation report for the current case. The report synthesizes all available analysis results into a structured diagnostic narrative. The interpretation depth adapts automatically based on which analysis modules have been completed.
Interpretation Levels
The system detects which data is available and adapts the report accordingly. More complete data produces deeper, more clinically useful interpretations.
ACMG classification completed
Pathogenic and Likely Pathogenic variants, notable VUS with HIGH impact. Recommends enabling additional analysis modules.
+ Clinical screening completed
Actionability tiers, prioritized variants with constraint scores, age-appropriate gene relevance. Adds clinical context from screening boosts.
+ Phenotype matching completed
Genotype-phenotype correlation, semantic similarity scores, clinical tier assignments. Correlates findings with patient symptoms.
+ All modules completed
Comprehensive diagnostic synthesis integrating classification, screening, phenotype matching, and literature evidence into a cohesive clinical narrative.
Report Structure
Every report has three sections. The header and disclaimer are template-driven and never AI-generated, ensuring accuracy for patient information and legal text. Only the clinical interpretation body is produced by the AI.
Header (Template)
Report metadata, patient demographics, ethnicity, clinical indication, family history, consanguinity status, consent settings, HPO phenotype terms, analysis modules completed, and dataset summary (total variants, P/LP/VUS counts).
Clinical Interpretation (AI-Generated)
Diagnostic narrative typically 2,000-4,000 words. Covers primary findings, evidence assessment with ACMG criteria explanation, allele frequencies in scientific notation, inheritance mode analysis, genotype-phenotype correlation, and clinical recommendations.
Disclaimer (Template)
Legal statement noting the AI origin of the interpretation, requirement for validation by a qualified clinical geneticist, liability limitation, and co-signing requirement.
Data Grounding
The interpretation system enforces strict data grounding rules to prevent hallucination:
The AI only discusses genes and variants that appear in the provided analysis data. It does not invent or fabricate findings.
It does not add "textbook" pathogenic variants that are not present in the patient's results.
It does not reclassify variants. If the pipeline classified a variant as VUS, the interpretation discusses it as VUS.
Allele frequencies are reported in scientific notation with the exact values from the database.
When data for a specific analysis module is missing, the AI acknowledges the gap and recommends enabling that module rather than speculating.
Export Formats
| Format | Features |
|---|---|
| Branded A4 layout with Helix Insight header, page numbers, "CONFIDENTIAL" watermark, print-friendly links, proper table formatting. | |
| DOCX | Editable Word document with formatted headings, tables, and inline styling. Suitable for further customization before distribution. |
Important
The clinical interpretation is AI-generated and does not constitute a medical diagnosis. All findings must be independently validated by a qualified clinical geneticist before being used in patient care. The report includes a standard disclaimer section stating this requirement.