Genetic Test Results Disclosure Note

Date of Disclosure: [date]

Disclosing Clinician: [name, credentials]

Patient: [name, identifiers per local practice]

Encounter Type: [in-person / video / phone]

Participants: [patient, caregivers, interpreter if used]

Reason for Visit: Disclosure of [test name] results

Clinical Indication

[Testing indication, clinical question, and pertinent personal/family history informing interpretation] (State the purpose: diagnostic / predictive / carrier / pharmacogenomic / reproductive. Reference existing pedigree rather than recreating. Note relevant pre-test counseling decisions such as secondary findings preferences.)

Test and Results

Test Details: [Laboratory name] | [Test name and methodology] | [Specimen type, collection date] | Report dated [date]

Overall Result: [Positive / Negative / Uncertain]

(For positive or uncertain results, document each finding below. For negative results, state what was evaluated and that no reportable pathogenic variants were identified.)

[Variant findings: gene, HGVS nomenclature, zygosity, laboratory classification, inheritance pattern, and whether finding explains clinical presentation] (List in order of clinical actionability. Include confirmatory testing status if applicable.)

Secondary Findings: [None reported / Patient opted out / Reported findings] (Include details only if disclosed during this encounter.)

Interpretation and Limitations

[Clinician interpretation correlating the result to the patient's presentation] (State whether diagnostic, risk-predictive, or carrier status. For VUS, explicitly state that significance is uncertain and management should be based on personal/family history rather than the VUS. For negative results, clarify what conditions remain possible and whether additional testing is warranted.)

Residual Risk: [For negative results, note risk is reduced but not eliminated and why. For positive results, note variable penetrance/expressivity. Include relevant assay-specific technical limitations.]

(If information is missing at disclosure, document this explicitly and avoid recording variant details from memory.)

Counseling Provided

[Topics reviewed: result meaning, inheritance pattern, medical and reproductive implications, family communication, possibility of reclassification] (Summarize patient questions and emotional response. Document evidence of understanding. Record patient preferences regarding sharing results with family, desire for written summary or family letter, and contact preferences for future updates.)

Plan

Management: [Surveillance, risk-reduction recommendations, and referrals based on result and clinical context] (For VUS, explicitly note that management is based on phenotype/family history, not the VUS.)

Family/Cascade Testing: [At-risk relatives and recommended testing approach] (For positive results, recommend targeted testing for familial variant. Note whether family letter was offered and patient's agreement to share information. Document privacy considerations discussed.)

Follow-up: [Follow-up plan and timeframe] (For VUS and complex cases, document reinterpretation pathway and that classifications may change over time.)

Records: [Patient received copy of report: yes/no] [External communications sent, if any]