Pediatric/Neurodevelopmental Genetic Counseling Note

Patient Name: [Patient full name]

DOB: [MM/DD/YYYY]   MRN: [Medical record number]   Age at Encounter: [Age in years/months]

Encounter Date: [MM/DD/YYYY]   Encounter Type: [New Consultation / Follow-up / Results Disclosure]   Service Modality: [In-person / Video / Phone]

(Tailor sections to encounter type. For Results Disclosure visits, use the Results Disclosure Variant section. Use ACMG/AMP variant terminology only; do not treat a VUS as diagnostic. Attribute information sources clearly and avoid propagating unverified diagnoses. When information is unavailable, state explicitly. Omit non-applicable sections rather than leaving blank.)

Participants and Referral

• Participants present: [Parent(s)/guardian(s) with relationship; patient if appropriate; other participants; interpreter if used with language and modality]
• Referring clinician: [Name, specialty, institution]
• Referral question: [Clinical question framed around phenotype and indication for genetic evaluation]

Information Sources

• History provided by: [Parent/guardian; patient if developmentally appropriate] (Note reliability limitations such as adoption, foster placement, or limited prenatal history.)
• External records reviewed: [Document type, date, source, key relevant findings] (Cite source and date for outside diagnoses.)
• Records requested but unavailable: [Items and date requested] (Omit if none.)

Presenting Concern and Developmental History

Chief concern: [Who is concerned and why now; family goals such as diagnosis, prognosis, recurrence risk, supports]

Neurodevelopmental phenotype summary:

• Domains affected: [Gross motor / Fine motor / Speech-language / Cognition / Social communication / Adaptive skills] (Specify severity and functional impact.)
• Trajectory: [Static / Progressive] [Presence or absence of regression; age and context if present]
• Neurologic comorbidities: [Seizures / Hypotonia / Movement disorder / Sleep disturbance / Behavioral or psychiatric features] (Include onset age and control status.)
• Associated medical features: [Growth abnormalities / Congenital anomalies / Feeding difficulties / Hearing / Vision] (Include salient positives and negatives relevant to differential.)

Chronologic history:

• Prenatal and birth history: [Key exposures, screening, complications, gestational age, delivery, neonatal course] (If unknown, state reason.)
• Developmental milestones: [Ages of major motor, language, social milestones; losses if any]
• Therapies and services: [EI / PT / OT / ST / ABA; IEP/504; frequency and response]
• Neuropsychological testing: [Dates and key results relevant to cognitive/adaptive profile] (Include if available.)
• Medical and surgical history: [Problem list with onset ages; hospitalizations; surgeries] (Include only items relevant to genetic evaluation.)
• Targeted review of systems: [Additional phenotypic features by system] (Include only if assessed and relevant to differential.)

Family History and Pedigree

• Pedigree scope: [Three-generation pedigree or best possible] (If pedigree cannot be obtained, document why.)
• Key findings: [Similar neurodevelopmental concerns / Genetic diagnoses / Congenital anomalies / Pregnancy losses / Consanguinity] (Include ages of onset and relationships.)
• Ancestry: [Ancestry if relevant to variant interpretation or targeted testing] (Omit if not clinically relevant.)
• Limitations: [Unknown or limited family history and reason]
• Pedigree image location: [Chart location]
• Narrative summary: [Synthesis of salient positives and negatives affecting genetic risk]

Social and Psychosocial Context

• Living situation and guardianship: [Custody/guardianship status relevant to consent and record access]
• Stressors and supports: [Factors affecting care adherence, caregiving capacity, resources]
• Understanding and expectations: [Family understanding of condition; goals for testing; concerns such as guilt, stigma, discrimination; readiness for results]

(Include only information relevant to clinical care; avoid speculative or nonessential sensitive details.)

Physical Examination

(Include only if exam was performed or reviewed from outside records; otherwise omit section entirely.)

• Performed by: [Clinician name and role; date] [In-person / Video] (If relying on outside exam, cite source and date.)
• Anthropometrics: [Height/length, weight, OFC with percentiles] (If not obtained, state "not assessed.")
• Dysmorphology and neurologic observations: [Salient features; tone; coordination; gait] (For telehealth or limited cooperation, state uncertainty.)

Prior Genetic and Relevant Testing

• Genetic testing to date:
  • Test: [Test name and type] | Laboratory: [Lab] | Date: [MM/YYYY]
  • Result: [Pathogenic / Likely pathogenic / VUS / Likely benign / Benign / Negative]
  • Findings and interpretation: [Gene/region; variant details; clinical correlation] (Use ACMG/AMP terminology only.)
  • Recommended follow-up: [Parental studies; segregation; reanalysis] (Note completion status.)
  • Report status: [Confirmed report on file / Unconfirmed family report; plan to obtain]
• Other relevant testing: [Metabolic screening, neuroimaging, EEG, neuropsych] (Include dates and key findings.)

Assessment

[Concise synthesis covering referral question, 2–5 defining phenotypic features, salient family history, salient prior testing, and whether additional testing is indicated. Include testing strategy rationale: how selected test aligns with phenotype and prior workup, and how results could change management, prognosis, recurrence risk, or services. Note limitations such as evolving phenotype and reanalysis plans. Include differential diagnosis only if it impacts testing strategy.]

Genetic Counseling Provided

• Testing options discussed: [CMA / Fragile X / Exome or genome sequencing / Targeted panels / Familial variant testing] (Include role in diagnostic pathway, benefits/limitations, turnaround, reanalysis potential.)
• Informed consent elements reviewed:
  • Purpose and scope: [Conditions evaluated; what test can and cannot determine]
  • Possible result types: [Pathogenic / Likely pathogenic / VUS / Negative and implications of each]
  • Limitations: [Variant types not detected, coverage gaps, mosaicism limits]
  • Unexpected findings: [Secondary findings policy; misattributed parentage for trio testing]
  • Family implications: [Cascade testing; recurrence risk; reproductive options]
  • Data handling: [Storage, data sharing, reanalysis potential]
  • Privacy and insurance: [Protections and limitations; discrimination considerations]
  • Costs and authorization: [Insurance authorization; out-of-pocket considerations]
  • Right to decline or choose alternatives: [Documented]
• Decision-making and permissions:
  • Legal decision-maker(s): [Name(s) and relationship(s) providing permission]
  • Assent: [What was explained to child/adolescent and their response] (If not sought, document why.)
  • Decision: [Testing elected / Declined / Deferred] (If elected: test(s), participating family members, secondary findings preference. If declined/deferred: reasons and revisit plan.)

Plan

• Genetic testing orders: [Test name; laboratory; specimen type; trio/duo/proband-only; insurance authorization plan]
• VUS approach: [Parental studies; segregation; reinterpretation timeline]
• Referrals and management: [Subspecialty referrals; therapy/services; surveillance recommendations]
• Family counseling and supports: [Educational materials; early intervention/school resources; psychosocial supports]
• Recurrence risk counseling: [Now vs after results; contingent scenarios]
• Results disclosure plan: [Phone / Video / In-person]; [Who will receive results]; [Expected turnaround]; [Process for urgent findings]
• Reanalysis plan: [Time-based interval; phenotype/family history triggers; how family should update clinic] (Include for exome/genome.)

Results Disclosure Variant

(Use for results-focused encounters. Abbreviate history to interval changes.)

• Interval history: [New diagnoses; developmental or medical changes; new family history since last visit]
• Test performed: [Name; laboratory; date; specimen(s); trio/duo/proband-only]
• Result: [Pathogenic / Likely pathogenic / VUS / Likely benign / Benign / Negative]
• Key findings: [Gene(s), variant(s) with HGVS, zygosity, CNV size/origin if applicable]
• Interpretation: [Correlation with phenotype; inheritance pattern; penetrance/expressivity; residual risk and limitations]
• Counseling provided:
  • Medical/developmental implications: [Management, surveillance, prognosis]
  • Recurrence risk and reproductive options: [Based on result and family context]
  • Cascade testing recommendations: [Who to test, test type, logistics]
  • Next steps: [Confirmatory studies, parental testing, referrals, research options]
• Family questions and understanding: [Questions addressed; family's stated understanding]
• Follow-up plan: [Written report communication; management actions; reanalysis plan; next visit timing]