Genetic Testing Informed Consent/Pre-Test Counseling Note

Date/Time: [Date and time of encounter]

Location/Modality: [in-person / telehealth / phone]; [Clinic or site]

Author/Credentials: [Name, credentials, role]

Participants Present: [Patient, parent/guardian, partner, interpreter with language, others as applicable]

Decision-Maker: [adult with capacity / surrogate / parent-guardian for minor]; [Name and relationship] (Document basis of legal authority if surrogate.)

Indication for Testing

Clinical question: [Primary clinical question] — [diagnostic / predisposition / carrier screening / pharmacogenomic / exome / genome]

Clinical scenario: [Brief phenotype or clinical scenario prompting evaluation]

Prior genetic testing: [Test name, date, lab, result] (Use "None to date" if none; "Unknown" if not known. If family history was not obtained, state "Family history not obtained" rather than leaving blank.)

Pertinent History

• Personal medical history: [Relevant diagnoses, age(s) of onset, key findings] (Include only details relevant to test selection and interpretation.)
• Family history summary: [Affected relatives, relationship, diagnoses, age(s) at onset, lineage] (Reference full pedigree location if exists; provide concise interpretive summary here. Use "Unknown" for missing details.)
• Ancestry/consanguinity: [Self-reported ancestry]; Consanguinity: [Yes / No / Unknown] (Include only if relevant to interpretation.)
• Reproductive context: [Pregnancy status, reproductive goals, partner testing status] (If applicable.)
• Known familial variant(s): [Gene, variant nomenclature, reporting lab] (Use "None known" or "Unknown" if applicable.)

Test Selection and Rationale

• Primary test offered: [Test name] — [single gene / targeted variant / multi-gene panel / exome / genome / pharmacogenomic panel]; [Clinical / Research]
• Alternatives discussed: [Alternatives considered including no testing or deferred testing, with brief rationale for and against]
• Rationale for selected approach: [Why preferred: yield, turnaround time, breadth, cost, management impact] (Document in clinically meaningful terms; avoid marketing language.)
• Specimen and collection: [Blood / Saliva / Buccal / Other]; [Collection at visit / Kit mailed / Phlebotomy order / TBD]
• Family-based testing: [Proband-only / Duo / Trio] (Include rationale if family testing planned.)
• Laboratory: [Lab name]
• Authorization status: [Approved / Pending / Not pursued]; [Estimated patient cost if known] (If selection pending insurance or patient decision, document this and contingency plan.)

Pre-Test Counseling Summary

(Document topics discussed, tailored to test type. If a standard topic was not discussed, note the reason and plan to address later. Omit topics not applicable to test type.)

• Purpose and utility: [What test may answer: diagnosis, risk, therapy guidance, reproductive planning; realistic expectations that testing may not yield a definitive answer]
• Possible result types: [Positive (pathogenic/likely pathogenic finding); Negative (distinguish true negative vs uninformative negative); Variant of Uncertain Significance (not used alone for major decisions, may be reclassified); Carrier results and residual risk if applicable]
• Secondary findings (exome/genome only): [Explained medically actionable findings unrelated to indication; opt-in/opt-out option; potential for unexpected familial relationships if trio/family testing]
• Technical limitations: [Regions not covered; variant types not detected such as certain CNVs, repeat expansions, deep intronic variants, low-level mosaicism as applicable to test]
• Interpretive limitations: [Incomplete penetrance; variable expressivity; genotype may not predict severity or age of onset; negative result does not fully exclude genetic condition]
• Risks and burdens discussed: [Psychological impacts; family implications; privacy and discrimination considerations including GINA and its limits; financial considerations]
• Data handling: [Variant database sharing policy; reanalysis/recontact pathway if applicable]
• Alternatives: [No testing, defer testing, different test, test affected relative first, clinical surveillance without testing]

Patient Values and Understanding

• Patient goals: [Patient-stated goals for testing and intended use of results]
• Secondary findings preference (exome/genome only): [Opt-in / Opt-out / Not applicable]
• Minor-specific preferences: [Preferences regarding adult-onset conditions] (If patient is a minor.)
• Authorized recipients of results: [Patient only / Parent-guardian / Partner / Other clinicians]
• Confirmation of understanding: [Teach-back summary confirming patient understands possible positive, negative, and uncertain results, and that negative result does not rule out all genetic causes]

Consent Decision

Decision: [Consented / Declined / Decision deferred / Partial consent]

Scope of consent: [Specific test(s) consented to; add-ons such as del/dup analysis or trio testing; secondary findings election if exome/genome]

Consent documentation: [Written signature / Electronic consent / Verbal consent]; stored in [EHR / Laboratory portal / Paper file]

Questions addressed: [Yes, all questions addressed / Follow-up questions pending]

Attestation: The purpose, benefits, limitations, and potential outcomes of testing were reviewed, including the possibility of uncertain results and findings unrelated to the indication when applicable. The patient demonstrated understanding and [elected to proceed / declined testing / deferred decision].

(If Declined: Document tests offered, patient-stated reason if provided, acknowledgment of potential consequences, and that decision may be revisited. If Partial consent: Document boundaries. If Deferred: Document reason and follow-up plan.)

Plan

• Ordering status: [Ordered / Pending authorization / Deferred / On hold pending patient decision]
• Specimen collection: [Specimen type, collection date/location, shipping plan]
• Turnaround time: [Estimated timeframe if known]
• Result disclosure: [Phone / Video / In-person / Portal]; [Estimated timeframe]; [Who will contact patient]
• Follow-up: [Result disclosure appointment; reanalysis plan if applicable]
• Cascade/family testing: [Relatives recommended for testing; approach; who will coordinate] (If applicable.)
• Referrals: [Genetics, specialist clinics, support resources] (If applicable.)