Genetic Counseling Consult Note (Hybrid)

Date/Time: [Encounter date and time]
Author: [Name, credentials]
Encounter Type: [Initial Genetic Counseling Consult / Follow-up Genetic Counseling Visit]
Visit Type Clarification: [Genetic counseling only; no physician evaluation performed / Joint visit with medical genetics physician]
Modality: [in-person / video / phone]
Participants: [Patient; family members present by relationship; Interpreter: [language] / Interpreter: not required]
Referring Clinician: [Name, specialty]
Reason for Referral: [Clinical indication prompting genetic counseling]

Evaluation Summary / Key Messages

• Clinical indication: [One-line, patient-friendly statement of the medical reason for today's consult]
• Key personal history:
  • [Relevant feature with age/date]
  • [Additional features as applicable] (Include 2–5 items directly relevant to the indication.)
• Key family history:
  • [Relationship]: [Condition], age [XX] at diagnosis
  • [Additional relatives as applicable] (Include 2–6 items using relationships and ages only; no names.)
• Risk assessment impression: [Risk estimate with explicit label: qualitative (low/moderate/high), quantitative (% or ratio), or model-based (model name)] (If limited by missing family information, state explicitly.)
• Testing decision today: [Ordered / Pending authorization / Deferred / Declined]: [Test category or name]
• Plan overview: [High-level next steps and follow-up timeline]

Chief Concern / Reason for Consult

[Patient concern and clinical indication in 1–3 lines; include brief direct quote if it clarifies goals or values] (If multiple indications, list in priority order with most medically actionable first.)

History

[Indication narrative: onset/diagnosis ages, key features, prior workups, and why genetics is being considered now; include pertinent negatives affecting testing strategy]

• Relevant personal medical history:
  • [Diagnosis or feature] — [age/date]
  • [Surgeries, screening findings relevant to indication] — [age/date]
• Prior genetic testing: [Test name/category; Laboratory; Date; Result summary; Report location] (Use standardized variant nomenclature. If none, state "No prior genetic testing documented.")
• Reproductive history: [Gravidity/parity, pregnancy status or plans if relevant to indication] (Omit if not relevant.)
• Ancestry/ethnic background: [Details if pertinent to condition prevalence, founder variants, or model inputs] (Omit if not relevant.)
• Adoption/consanguinity: [Adopted; biologic family history unknown / Consanguinity: denied / Consanguinity: reported] (Include only if relevant; use explicit statements rather than leaving blank.)

Records Reviewed

• [Record type] — [Date] — [Source] — [Documented / Patient-reported]
• (List external records reviewed with source attribution. Distinguish patient-reported from documented records.)

Family History & Pedigree

Pedigree obtained covering [number] generations; collected/updated [date]; stored at [EMR location/reference].

• Maternal lineage:
  • [Relationship]: [affected/unaffected], [condition(s)], age [XX] at diagnosis, [current age or age at death]
• Paternal lineage:
  • [Relationship]: [affected/unaffected], [condition(s)], age [XX] at diagnosis, [current age or age at death]
  • [Pertinent negatives influencing eligibility if applicable]
• Family history limitations: [Small family size / Unknown diagnoses / Estrangement / Adoption / Deceased relatives without records / None] (Use "unknown," "approximate," or "reported" explicitly. Do not include identifying details for relatives.)

Genetic Counseling Provided

• Education: [Suspected condition(s)], [inheritance pattern(s)], [how personal and family history fit the clinical picture]
• Risk assessment discussion: [Patient-specific risk estimates labeled as qualitative, quantitative, or model-based with model name]
• Pre-test counseling: (Include if testing discussed.)
  • Purpose: [diagnostic / predictive / carrier / familial variant / tumor testing]
  • Possible results: [pathogenic/likely pathogenic, negative, VUS, secondary findings if applicable]
  • Limitations: [Technical and clinical limitations relevant to case]
  • Alternatives: [Different test types, defer testing, test affected relative first]
  • Implications: [Medical management, psychosocial considerations, family impact]
• Consent: [Informed consent obtained; written/electronic consent completed / Patient declined testing: reason if voluntarily stated]
• Privacy and protections: [GINA protections and confidentiality considerations discussed] (Include when testing pursued.)

Testing & Eligibility

• Tests considered: [Test name/category] — [Rationale why appropriate or inappropriate]
• Selected test: [Test name/category]; [Laboratory]; [Specimen type]; [Expected TAT]; [Key limitations if relevant] (If no testing selected, state reason.)
• Eligibility rationale:
  • Clinical features meeting criteria: [list]
  • Family history elements meeting criteria: [list]
  • Suspected syndrome(s)/differential: [list]
  • Guideline (if applicable): [Guideline name, version, specific criteria met]
• Authorization and cost: Prior authorization: [required/not required]; Initiated by: [clinic/lab]; Financial assistance discussed: [yes/no]

Physical Examination

[Not performed / Pertinent findings if performed] (State explicitly if not performed.)

Assessment

[Clinical synthesis: whether genetic etiology is suspected, most likely diagnosis(es), key differentials, rationale, and patient-specific risk statement; for pregnancy/offspring if relevant] (Label clinical inferences explicitly. Use "reported" or "suspected" for unconfirmed diagnoses in relatives. If no testing indicated, state rationale.)

Plan

• Orders: [Tests/referrals placed or pending] — [Timeline]
• Specimen collection: [On-site / Kit shipped / External lab draw] — [Timeline]
• Result delivery: [Method: portal/phone/video/in-person]; [Expected timeline]; Results visit scheduled: [yes with date / no]
• Management recommendations (results-independent): [Screening, referrals based on current history]
• Conditional recommendations (results-dependent): [If positive / If negative / If VUS]
• Referrals: [Service] — [Reason]
• Communication: [Plan for referring clinician and care team]
• Follow-up: [Interval and triggers for earlier contact]

Family Implications / Cascade Testing

• Relatives potentially at risk: [Relationship categories and rationale]
• Recommended next steps for relatives: [Test most informative affected relative first / Targeted familial variant testing when identified / Clinical screening based on family history]
• How relatives can access genetic counseling: [General guidance on referral pathways or resources]

Time Documentation

Total time (minutes): [Single number, not a range]
Time-qualifying activities: [Chart review / Counseling and education / Documentation / Care coordination / Ordering]