Genetic Counseling Consultation Note (Hereditary Cancer Risk Assessment)

Date: [Date]

Patient: [Full name and identifiers]

Author/Credentials: [Name, credentials, affiliation]

Referring Clinician: [Name, specialty, contact]

Clinical Question: [Referral indication]

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

Participants: [Patient alone / family members present / interpreter used]

Reason for Consultation

[Brief combined statement of patient-stated concern and clinician-framed indication] (1-3 sentences; may include a short patient quote.)

Executive Summary

• [Key personal cancer/tumor features influencing hereditary risk]
• [Key pedigree pattern by lineage]
• [Risk conclusion: suspicion level and leading syndromes/genes of concern]
• [Testing action: test ordered or deferred, and scope]
• [Management action items pending or independent of testing]
• [Follow-up plan and timing for results disclosure]

History of Present Illness

[Why this consultation is occurring now] (Describe triggering event, patient goals and decision preferences, and psychosocial context only if it influences decisions. Keep to 2-4 sentences unless meaningful complexity warrants expansion.)

Personal Medical History

(Clearly distinguish patient-reported versus record-confirmed information throughout. If details are unknown or records unavailable, document this and include a retrieval plan.)

• Cancer history:
  • [Primary site and laterality; histology/grade; stage; age/year at diagnosis; key biomarkers; treatments; current status] [Patient-reported / Record-confirmed]
  • (Add additional cancers as applicable.)
• Benign/premalignant findings: [Polyps with number and histology; atypical hyperplasia; syndrome-associated findings] [Patient-reported / Record-confirmed]
• Screening history: [Relevant prior imaging/endoscopy with dates and results] [Patient-reported / Record-confirmed]
• Risk-reducing procedures: [Procedures performed with age/date and indication] [Patient-reported / Record-confirmed]
• Reproductive/gynecologic history: [Elements relevant to risk modeling or counseling] [Patient-reported / Record-confirmed] (Include only when relevant.)
• Ancestry/ethnicity: [Self-reported background relevant to founder variants]
• Records reviewed: [Pathology reports, operative reports, imaging, clinic notes reviewed today]
• Information gaps: [Missing details and retrieval plan]

Prior Genetic Testing

(Omit this entire section if no prior germline or tumor testing has been performed.)

• Germline testing:
  • [Test type/scope]; [Laboratory]; [Date]; [Result: pathogenic / likely pathogenic / VUS / negative]; [Genes analyzed and key limitations]; [Tested while affected / unaffected]; [Report reviewed directly / patient-reported only]
  • (Add additional tests as applicable.)
• Tumor testing: (Include when relevant to germline strategy.)
  • [Test type]; [Laboratory]; [Date]; [Findings relevant to germline evaluation]; [Report reviewed directly / patient-reported only]

Family History and Pedigree

(Document a three-generation pedigree. Distinguish primary from metastatic cancers when possible. Describe patterns as "suggestive of" or "consistent with" syndromes without asserting a diagnosis.)

• Maternal lineage:
  • [Relationship; cancer type and primary site; age at diagnosis; current age or age/cause of death] [Record-confirmed / Patient-reported]
  • (Add additional relatives as needed.)
• Paternal lineage:
  • [Relationship; cancer type and primary site; age at diagnosis; current age or age/cause of death] [Record-confirmed / Patient-reported]
  • (Add additional relatives as needed.)
• Unaffected relatives: [Relationship; lineage; current age or age at death]
• Ancestry by lineage: [Maternal ancestry]; [Paternal ancestry] (Include when relevant to founder variants.)
• Pedigree limitations: [Adoption; donor conception; limited family size; estrangement; unconfirmed reports; consanguinity] (Document constraints impacting interpretation.)
• Pedigree figure: [Attached / Not available]
• Pattern summary: [Brief narrative describing overall pattern by lineage and syndromes it suggests]

Risk Assessment

• Syndromes/genes considered:
  • [Evidence] → [Interpretation linking to specific syndrome/gene]
  • (Add additional syndromes/genes as applicable.)
• Guideline eligibility: [Guideline name and version/year]; [Specific criterion met] (If criteria not met, document rationale for testing: patient preference, limited family history, adoption, tumor findings.)
• Quantitative risk models: [Model name; key inputs; output summary and influence on decisions] (Include only if used for clinical decision-making.)
• Overall hereditary risk level: [Low / moderate / high suspicion] (Qualitative summary; avoid overstatement when history is unverified.)

Testing Strategy and Rationale

• Options discussed: [Targeted familial variant / single-gene / multigene panel / reflex germline from tumor]
• Optimal testing candidate: [Most informative affected relative identified, or rationale for testing unaffected individual and counseling regarding reduced informativeness]
• Rationale statement: [Why testing is indicated; why this scope; why this individual now; decisions the result will influence]

Pre-Test Counseling

(Document that the following topics were discussed.)

• Possible result categories: pathogenic/likely pathogenic (management impact, family implications); VUS (uncertainty, typically non-actionable, reclassification expectations); negative (residual risk, limitations, does not eliminate inherited risk).
• Test limitations: technical (variant types not detected, evolving knowledge) and clinical (incomplete penetrance, limited evidence for some genes).
• Family communication: encouraged sharing with at-risk relatives; clinicians do not contact relatives without patient consent.
• Privacy and discrimination: applicable protections and limitations (e.g., GINA does not cover life, disability, or long-term care insurance).
• Informed consent: patient had opportunity for questions; [demonstrated understanding via teach-back / verbalized understanding]; [agrees to proceed / declines and understands alternatives]; results disclosure plan [method and timing].

Assessment

• [Personal history of cancer(s) with key features and ages]
• [Family history pattern impacting hereditary risk]
• [Meets / Does not meet] criteria for hereditary cancer testing per [guideline name, version]: [specific criterion]
• [Other pertinent problems or modifiers affecting testing/management]

Impression: [Concise summary of hereditary risk level and leading considerations]

Plan

Genetic Testing: [Test name and scope]; [laboratory]; [specimen type]; [collection plan]; [expected turnaround]; [authorization status]; [contingency if denied or cost-prohibitive].

Risk Management Recommendations: [Conditional format: If P/LP in X gene → Y; If negative/VUS → manage based on personal/family history] (Clarify which are genetics-driven versus standard-of-care for current diagnosis.)

Cascade Testing: [Most informative relatives to test if P/LP found]; [at-risk relatives by relationship/lineage]; [family letter to be provided]; [how relatives can access testing/counseling].

Referrals: [Referrals as indicated]

Follow-up: [How and when results will be returned]; [recontact expectations for VUS reclassification]; [plan to update pedigree as family history evolves].

Results Disclosure

(Include this section only if results are being disclosed in this visit; omit for pre-test visits.)

• Test performed: [Name, lab, date, genes analyzed]
• Result: [Pathogenic / likely pathogenic / VUS / negative / likely benign / benign]; [gene]; [variant nomenclature]; [zygosity]
• Interpretation: [Implications for patient's cancer risks and management; connection to personal/family history]
• Updated management: [Changes to surveillance, risk-reducing options, and referrals based on result]
• Family testing plan: [Specific relatives for targeted testing; logistics and resources provided]
• Documentation: [Report attached/scanned; patient copy provided]