Folklore

Documentation / AI Clinical Assistant / Clinical Interpretation

Clinical Interpretation

The Folklore AI Assistant can draft a structured clinical genomic interpretation from the analysis modules completed for the current case. The generated text remains a reviewable draft and does not change the recorded variant classifications.

Interpretation Levels

The system adapts the sections it can populate to the available case data. Missing modules are identified rather than filled through speculation.

Level 1Variants Only

ACMG classification completed

Pathogenic and Likely Pathogenic variants, notable VUS with HIGH impact. Recommends enabling additional analysis modules.

Level 2Screening-Focused

+ Clinical screening completed

Actionability tiers, prioritized variants with constraint scores, age-appropriate gene relevance. Adds clinical context from screening boosts.

Level 3Phenotype-Focused

+ Phenotype matching completed

Genotype-phenotype correlation, semantic similarity scores, clinical tier assignments. Correlates findings with patient symptoms.

Level 4Full Analysis

+ 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)

Reviewable narrative covering the available findings, recorded ACMG evidence, allele frequencies, inheritance context, genotype-phenotype correlation, and points requiring geneticist assessment.

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

FormatFeatures
PDFBranded A4 layout with Folklore header, page numbers, "CONFIDENTIAL" watermark, print-friendly links, proper table formatting.
DOCXEditable 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.