Genetic Medicine Consultation Note

Date/Time: [Encounter date and time] Location: [Clinic name / telehealth / inpatient unit / records-only]

Author: [Name, credentials, and role (e.g., Clinical Geneticist / Genetic Counselor)]

Patient: [Full name], [DOB], [MRN]

Referring Clinician: [Name and service]

Reason for Referral: [Brief label of referral indication]

Interpreter: [Language and interpreter ID] (Include only if interpreter was used; otherwise omit this line.)

Participants Present: [List all present with relationship to patient; identify decision-maker for minors]

Records Available: [Outside records / prior genetic test reports / photographs / pedigree reviewed] (State which were available and reviewed versus unavailable.)

Referral Question

[One to three sentences stating who is being evaluated, why now, and the specific genetics question being addressed: diagnostic evaluation / recurrence risk assessment / targeted familial variant testing / management guidance] (If referral information is unavailable, state this and describe the presenting concern that focused the evaluation.)

Summary Statement

[Three to six sentence synthesis including patient age, pertinent clinical context, key phenotypic features, prior testing status, and the working differential or leading hypothesis. Avoid exhaustive symptom lists; write for a clinician who may read only this section.]

History Source and Record Review

• History obtained from: [Patient / parent / guardian / caregiver], [in-person / telehealth / phone]
• Records reviewed: [Prior notes / imaging / laboratory studies / genetic test reports] (State whether original reports were reviewed versus summarized.)
• Reliability qualifiers: [Adoption / unknown family history / limited historian / language barrier / cognitive limitations / none] (Use explicit qualifiers throughout: "Unknown" = patient/family does not know; "Not assessed" = not asked; "Not applicable" = irrelevant to this consult.)

History of Present Illness

[Narrative phenotype description with timeline. Include onset and evolution of key features; major prior evaluations and conclusions; prior interventions and response; pertinent negatives only when they narrow the differential. Use standardized descriptors and measurable terms (e.g., percentiles, Z-scores). For pediatric or neurodevelopmental concerns, include developmental milestones, presence or absence of regression, therapies, and educational supports. For adult-onset conditions, include age at diagnosis and relevant exposures. If evaluating a known familial variant, clarify whether the patient is affected, unaffected, or undergoing predictive versus carrier testing.]

Prior Genetic Testing

(Document each prior genetic test using the format below. If no prior testing exists, state explicitly: "No prior genetic testing known, confirmed by [record review / patient report].")

• Test: [Test name and scope: single gene / panel / chromosomal microarray / exome / genome / mitochondrial DNA / repeat expansion / methylation / biochemical]; Laboratory: [Performing lab]; Date: [Collection or report date]; Result: [Pathogenic / Likely Pathogenic / VUS / Negative / Inconclusive]; Key findings: [Gene, variant, HGVS nomenclature if available]; Limitations: [Brief statement relevant to this case]; Source: [Original report reviewed / reported by family] (Do not upgrade or downgrade laboratory classification unless clearly labeled as clinician interpretation with justification.)

Past Medical and Developmental History

• Pertinent medical/surgical history: [Key diagnoses, surgeries, hospitalizations]
• Developmental history: [Milestones with ages; regression absent or present; therapies; educational supports] (Include for pediatric or neurodevelopmental evaluations.)
• Prenatal and birth history: [Pregnancy complications, exposures, screening results; delivery details; gestational age; NICU course] (Include for pediatric or congenital anomaly evaluations.)
• Growth trends: [Height, weight, head circumference with percentiles or Z-scores]

Current Medications and Allergies

• Medications: [Name, dose, frequency, indication]
• Allergies: [Allergen and reaction type]
• Relevant exposures: [Environmental, occupational, or reproductive exposures] (Include only when pertinent to the genetic evaluation.)

Review of Systems

(Include only if it adds diagnostic value beyond the HPI. Provide a targeted review aligned to the referral question. Omit this section entirely if the HPI adequately captures relevant systems.)

• [Targeted system] [Positive findings and diagnostically meaningful negatives]

Physical Examination

Examination type: [In-person / telehealth with stated limitations / records-only consult, no examination performed]

• Vitals and anthropometrics: [Height, weight, head circumference, blood pressure, heart rate] [Include percentiles or Z-scores]
• General appearance: [Objective descriptors]
• Dysmorphology: [Standardized descriptors of craniofacial and other findings]
• System-focused examination: [Neurologic / cardiac / skin / musculoskeletal / ophthalmologic findings as relevant to the phenotype]

Family History and Pedigree

Pedigree: Three-generation pedigree obtained and stored in [EHR media / attachments]. Proband: [Identifier]. Informant: [Name and relationship].

• Maternal lineage: [Key diagnoses, ages at diagnosis, current ages or ages and causes of death, genetic testing status if known]
• Paternal lineage: [Key diagnoses, ages at diagnosis, current ages or ages and causes of death, genetic testing status if known]
• Consanguinity: [Yes / No / Unknown]
• Ancestry/ethnicity: [Details] (Include when relevant to risk assessment or test interpretation.)
• Reproductive history patterns: [Recurrent pregnancy loss / stillbirth / neonatal deaths / infertility / congenital anomalies / none known / not assessed]

(Distinguish "family history negative for X" from "no known family history of X" from "unknown." Use "unknown" rather than implying negative history when information is unavailable.)

Clinical Impression and Differential Diagnosis

[Concise synthesis linking phenotype, family history, and prior testing to leading hypotheses]

• Prioritized differential: [Most likely and most actionable conditions first, with inheritance pattern and brief rationale]
• Risk assessment: [Mendelian recurrence risk if carrier or affected status is established; empiric or complex risk with stated basis] (Avoid false precision. Use ACMG/AMP variant terminology. A VUS should not drive clinical management unless clearly justified.)

Genetic Counseling Provided

• Education: [Suspected or known condition(s), natural history, and inheritance pattern(s)]
• Testing options discussed: [Options considered including option of no testing, with rationale for recommended approach]
• Benefits and limitations: [Sensitivity, specificity, technical and interpretive limitations]
• Possible results and implications: [Pathogenic/Likely Pathogenic findings and diagnostic, management, cascade testing implications; Negative results and residual risk; VUS and non-actionable status pending further evidence; secondary findings if applicable to genomic testing]
• Psychosocial assessment: [Relevant factors influencing care and decision-making]
• Informed consent: [Risks, benefits, limitations, and alternatives reviewed; secondary findings preferences if applicable; implications for family members discussed]
• Results communication plan: [Method, approximate timeline, who will receive results]

Testing Plan

• Test(s) ordered or recommended: [Name, scope, and brief rationale]
• Laboratory and methodology: [Lab name; sequencing, CNV analysis, methylation, biochemical, etc.]
• Family structure: [Proband-only / duo / trio]; [Who will be sampled]
• Specimen and logistics: [Sample type; collection plan]
• Expected turnaround time: [Timeframe if known]
• Insurance/authorization: [Status or plan]
• Reflex or contingency plans: [Reanalysis if nondiagnostic; targeted family studies for VUS; confirmatory testing]
• Data sharing and recontact: [Patient preferences; reanalysis expectations]

(If testing is deferred, state what additional information is required before proceeding.)

Management and Surveillance Recommendations

(Organize by problem or diagnosis. State when recommendations depend on confirming a diagnosis.)

• Immediate actions: [Referrals, confirmatory testing, safety concerns]
• Ongoing surveillance: [Recommended imaging, labs, specialty follow-up with intervals]
• Supportive care and resources: [Therapies, educational supports, patient resources]

Family Member Implications and Cascade Testing

• At-risk relatives: [Who and why]
• Recommended strategy: [Test affected relative first / targeted familial variant testing; sequencing versus carrier testing]
• Reproductive implications: [Carrier testing; prenatal diagnosis; preimplantation genetic testing] (Include when relevant.)
• Communication tools: [Family letter or result summary to be provided]

(If no cascade testing is indicated, state explicitly.)

Follow-Up and Results Disclosure Plan

• Results disclosure: [How and when results will be returned; who will disclose]
• Planned follow-up: [Interval and triggers for earlier follow-up]
• Genomic reanalysis: [Whether periodic reanalysis is expected and under what conditions] (Include for exome or genome testing.)

Electronic Signature: [Name, credentials] — [Department] — [Contact information]

Time Statement: [Total clinician time in minutes]; [Major activities: pre-visit record review, history, examination, counseling and education, test ordering, documentation, care coordination] (Include only if billing by time; otherwise omit.)