Inpatient Genetics Consultation Note

Date/Time: [Date and time of note]
Hospital Day: [HD#]
Location: [ICU / stepdown / floor]
Consulting Service: Medical Genetics
Author: [Name, credentials, role]
Referring Service: [Referring inpatient service]
Requesting Clinician: [Name, role]
Mode: [in-person / chart review / telemedicine]
Sources of History: [patient / parent-guardian / bedside RN / EHR / outside records / other]
History Limitations: [None / limited—specify reason and plan to obtain missing information]

Executive Summary

Consult Question: [Exact question from primary team in one sentence]

Phenotype Summary: [1–2 sentence problem representation: age, sex, setting, acuity, key features, time course]

Working Impression and Differential:

• Must-not-miss/Treatable:
  • [Diagnosis] — [Rationale linking to features and time-critical therapy]
• Most Likely:
  • [Diagnosis] — [Rationale]

Urgent Actions (within 0–24 hours):

• [Immediate laboratory tests] (Specify timing, tubes, volumes, plasma/serum/whole blood/urine)
• [Imaging or specialty consults required now] (State indication)
• [Management precautions] (e.g., fasting avoidance, dextrose support, trigger avoidance, anesthesia precautions)
• [Genetic test orders and specimen requirements] (e.g., rapid trio exome, EDTA tubes; note transfusion/dialysis timing considerations)
• [Monitoring recommendations] (e.g., cardiac monitoring, glucose/lactate frequency)

Communication and Disposition: [Who was informed (name, role, method, date/time); how results will be routed; whether genetics will continue to follow or sign off; next steps and owner for pending items]

Reason for Referral

[Brief context for consultation including care location, impending procedures, anticipated discharge timing, and specific clinical questions. If multiple questions, enumerate them.]

History of Present Illness

[Chronologic narrative using dates or hospital days. Include presenting problem, evolution during hospitalization, relevant interventions and responses, trigger for genetics consult, and current supportive measures relevant to specimen collection (ventilation, pressors, dialysis, TPN, transfusions). Summarize key negative workup findings without listing exhaustive normals. Note pending outside records and plan to obtain.]

Relevant History

(Include only applicable subsections; omit categories that do not apply.)

Prenatal/Perinatal: [Prenatal screening/imaging findings; maternal conditions/exposures; gestational age; birth parameters; delivery complications; Apgars; newborn screen status] (Pediatric patients)

Developmental: [Milestones; regression; school performance; therapies]

Past Medical/Surgical: [Major diagnoses; prior admissions; surgeries; congenital anomalies; prior genetics evaluations and outcomes]

Medications: [Current and recent medications relevant to metabolic risk, anesthesia sensitivity, or QT risk; distinguish true allergies from adverse reactions]

Family History

[Three-generation history summary. Include: pedigree availability and location (or why not feasible); consanguinity; relevant ancestry/ethnicity; recurrence patterns (miscarriages, stillbirths, neonatal/sudden deaths, developmental disability, congenital anomalies, known genetic diagnoses). Identify historian and reliability; label uncertain or second-hand reports. Include pertinent negatives only if they meaningfully narrow the differential.]

Physical Examination

Vitals/Growth: [Weight, length/height, head circumference with percentiles; current vitals]

General: [Overall appearance, distress level, tone, alertness, dysmorphic gestalt]

Dysmorphology: [Head shape; hairline; eyes; ears; nose; philtrum; mouth/palate; jaw]

Targeted Systems: [Neurologic; cardiac; respiratory; abdominal; GU; musculoskeletal; skin] (Document only systems examined)

Clinical Photography: [Obtained / Not obtained; consent status per institutional policy]

Structured Phenotype List:

• Present Features: [Feature (onset/severity if known); additional features] (Use specific clinical terminology)
• Absent Features: [Features directly assessed and confirmed absent that are relevant to differential]
• Unknown/Not Assessed: [Features not examined—do not infer]

Data Reviewed

(Curate relevant results only; summarize patterns and trends rather than listing full panels.)

• Key Laboratories: [Pertinent abnormalities and trends; genetics-critical labs such as lactate, ammonia, acylcarnitines, amino acids, urine organic acids as applicable]
• Imaging: [Modality and key impressions relevant to differential]
• EEG/Other Studies: [Salient findings if seizure or neurometabolic phenotype]
• Prior Genetic Testing: [Test type; date; laboratory; result using ACMG/AMP terminology; relevant variants and zygosity; limitations]
• Pending/External Records: [Items outstanding and plan to obtain]

Assessment

Case Formulation: [Synthesis of phenotype and acuity; rationale for suspected genetic etiology; time-critical risks if present (metabolic decompensation, anesthesia risk, arrhythmia risk)]

Prioritized Differential Diagnosis:

• Must-not-miss/Treatable: [Diagnosis — rationale; key discriminators needed]
• Most Likely: [Diagnosis — rationale; key discriminators needed]
• Lower Probability: [Diagnosis — rationale; conditions to reconsider if new data emerge]

Inheritance Hypotheses: [Suspected pattern: de novo AD / AR / X-linked / mitochondrial / imprinting / CNV / mosaicism] (Label as hypothesis)

Recommendations

Genetic Testing Plan

• Test: [Name and type]
  Indication: [Link to phenotype/differential]
  Priority: [STAT / rapid / standard—rationale]
  Specimen: [Type, volume, tube; timing relative to transfusion/dialysis]
  Parental/Family Samples: [Needed / not needed; collection plan]
  Lab/Logistics: [Laboratory; requisition; shipping requirements]
  Result Routing: [Who receives results and notification method]
  Contingency: [Plan if rapid testing unavailable or nondiagnostic]

Pre-Test Counseling and Consent

• [Purpose of testing and alternatives discussed]
• [Possible outcomes explained: diagnostic, negative, VUS]
• [Limitations discussed: sensitivity, evolving interpretation, mosaicism detection]
• [Secondary findings policy and patient/guardian preferences]
• [Family implications and cascade testing potential]
• [Consent obtained; if not, reason and plan to obtain]

Adjunct Testing

[Biochemical genetics/metabolic tests, additional imaging, or specialty evaluations needed to refine phenotype] (Omit section if none recommended)

Immediate Management Recommendations

• Actionable now: [Metabolic precautions, medication/anesthesia precautions, monitoring parameters]
• Conditional (pending results): [Recommendations contingent on test results—clearly label as conditional]

Communication Log

• [Name, role] — [method] — [date/time] — [Key information communicated and decisions made]

(Document any disagreements and plan to reconcile)

Follow-Up Plan

• Result Follow-Up: [Responsible clinician; family notification plan; backup contact]
• Inpatient Course: [Genetics to follow / sign off with re-consult criteria]
• Outpatient Genetics: [Appointment timeframe and scheduling status]
• Triggers for Expedited Follow-Up: [Clinical or result-based triggers]
• Family/Cascade Testing: [Plan if diagnosis confirmed; coordinator]
• If Discharge Before Results: [Result routing and notification contingency]