Genetic Test Consent & Order Note (Germline)

Date/Time: [Encounter date and time]

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

Author: [Name, credentials, and role]

Interpreter: [none / yes - specify language]

Persons Present: [Patient and others present]

[Brief summary of encounter purpose] (State whether this was pretest counseling and consent for germline genetic testing, counseling only, or results disclosure; 1–2 sentences.)

Indication for Testing

[Clinical question, suspected condition(s), and testing category] (In 1–3 sentences, state the clinical question, suspected condition(s) or risk scenario, the testing category [diagnostic / predictive / carrier / pharmacogenomic / familial variant], and why testing is being pursued now.)

(Provide only clinical context that materially supports the indication or affects interpretation. If information is incomplete or unavailable, state what could not be obtained and why rather than leaving blank.)

• Relevant personal history: [Key diagnoses, age at onset, significant findings, relevant procedures or prior workup]
• Relevant family history: [Affected relatives with diagnoses and ages; lineage; known variants in relatives; pedigree status] (Note if family history is limited or unknown. Do not infer negatives unless explicitly asked and answered.)
• Prior genetic testing: [Patient or key relatives—test type, laboratory, result summary, and source] (Attribute whether confirmed from medical record vs patient report.)

Test Strategy and Medical Necessity

Test Strategy: [Selected test type and rationale] (Describe the chosen approach—single gene, multi-gene panel, exome, genome, targeted familial variant, etc.—and briefly why it was chosen over alternatives.)

Expected Impact on Management:

• [Result-dependent care changes] (List specific ways results could influence care—surveillance/screening, medications, procedures, specialty referrals, reproductive planning, or cascade testing.)
• [Management for negative or uninformative results]
• [VUS management] (Note that management is not changed based solely on a VUS.)

Alternatives Discussed: [Alternatives reviewed with patient] (e.g., no or deferred testing, narrower/broader options, stepwise testing, testing an affected relative first, or management based on history alone.)

Pretest Counseling

(Document that the following core topics were reviewed. Omit bullets without relevant content.)

• Purpose and scope of testing: [Genes/conditions evaluated; screening vs diagnostic intent]
• Possible result types: [Positive, negative/uninformative, and VUS discussed; VUS typically does not change management and may be reclassified]
• Test limitations and residual risk: [Methodological limitations; residual risk after negative results; impact of incomplete history]
• Risks and implications: [Psychological impact; implications for family members; practical burdens]
• Privacy: [Results become part of medical record; GINA protections and limitations discussed]
• Results logistics: [Expected turnaround time; how results will be communicated; cost/coverage if discussed]

Patient questions and concerns: [Key questions raised and how addressed; how understanding was assessed]

Secondary and Incidental Findings

(Include this section only when ordering exome, genome, or broad panels where optional/incidental findings may be reported. Omit entirely for targeted single-gene or small panel tests.)

Categories discussed: [Types of additional findings the laboratory may report] (e.g., medically actionable secondary findings, carrier status, pharmacogenomic variants, unexpected familial relationships for duo/trio testing.)

Patient preferences: [Explicit opt-in/opt-out decisions for each optional category] (Each preference must reflect the patient's stated choice; do not use default selections.)

Trio/duo considerations: [If applicable, confirmation that relatives were informed testing may reveal findings about themselves] (Omit if not trio/duo testing.)

Family Communication

[Discussion of familial implications and disclosure plan] (Document that patient was encouraged to share clinically significant hereditary findings with at-risk relatives. Note support offered such as family letter template or resources. If patient prefers not to disclose, document counseling provided and patient's stated preference.)

Consent

Decision-Making Capacity: [Capacity confirmed / surrogate decision-maker with relationship and authority / minor with parent/guardian consent and assent status]

Consent Obtained: [yes - written / yes - verbal per policy / yes - electronic / declined / deferred] (Indicate where signed forms are filed if applicable.)

Patient Decision: [proceed with testing / decline testing / defer pending additional information] (If proceeding, confirm specific test and any optional selections. Never infer consent from order placement; document explicitly.)

Test Order

(If counseling-only without an order, replace this section with: "No test ordered at this encounter" or "Testing deferred pending [reason].")

• Test Ordered: [Laboratory name; test name and code; indication/ICD-10]
• Specimen: [Type; collection status; special requirements if any]
• Family Specimens: [Relatives providing samples and consent status] (Include only if applicable.)
• Prior Authorization: [approved / pending / not required / not yet submitted]

Follow-Up Plan

• Results Disclosure: [Method, who will disclose, expected timeframe]
• Post-Test Plan: [Next steps contingent on results] (Positive: confirmatory testing, referrals, surveillance, cascade testing. Negative: continued risk-based management, alternate testing if indicated. VUS: no management change; reclassification follow-up if appropriate.)
• Resources Provided: [Educational materials, family letter templates, or other resources given]

Attestation

Author Signature: [Electronic signature with date and time]

Attachments: [Associated documents] (e.g., signed consent form, lab requisition, pedigree, patient education materials.)