Full library summary
Prompt: "I am uploading multiple clinical genomic reports. Read every file completely. Produce a summary with: (1) total reports processed, (2) all pathogenic and likely pathogenic variants in a table with gene, variant notation, zygosity, and condition, (3) all variants of uncertain significance grouped by gene, (4) any pharmacogenomics findings with drug recommendations. Cite the source report for each finding."
This prompt asks the model to read every file and return structured output instead of a vague overview.
Plain-language explainer
Prompt: "Explain the findings in these genomic reports as if speaking to an educated adult with no genetics background. Define every technical term you use. Separate confirmed findings from uncertain ones. End with three questions I should ask a genetic counselor."
Use this when you need to explain results to family members or prepare yourself before a clinical appointment.
Pharmacogenomics review
Prompt: "Review all pharmacogenomics content in these reports. List each gene, my predicted metabolizer status, affected drug classes, and any CPIC or FDA guidance mentioned. Flag combinations where standard dosing may not apply to me. Format as a table."
Useful before starting new medications or reviewing your current prescriptions with a doctor.
Cross-report deduplication
Prompt: "These reports overlap in coverage. Build a single master variant list, deduplicate entries that appear in multiple reports, and note any conflicts where the same variant has different classifications across reports."
Useful when you have been tested multiple times or received updated reclassifications.
Appointment preparation
Prompt: "Based on these genomic reports, draft a one-page brief for my doctor visit. Include: reason for testing, key positive findings, VUS findings worth monitoring, recommended follow-up tests, and five specific questions for the clinician. Keep it under 500 words."
Helps when you have a short visit and want the important points written down beforehand.
Tips for better results
Upload PDFs rather than pasting text. Tables and variant notation often break when copied.
If output is truncated, say "continue from where you stopped" rather than starting over.
Ask the model to quote exact HGVS notation from the report when discussing specific variants, so you can verify against the source.
Need help?
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