Rapid Genomic Sequencing Note (Inpatient)

Note Metadata

Note Type: [Order + Consent / Interim Status Update / Results Disclosure / Amended Interpretation]

Author/Service: [Author name, credentials, and service]

Date/Time: [Date and time of note entry]

Location: [Unit and bed]

Primary Team: [Service and attending of record]

Ordering Clinician: [Name and service / Same as author]

Reason for Note / Status

[Brief statement of why this note exists today and current test status] (Include current milestone: [ordered / samples collected / in lab / preliminary verbal / final report / amended]. State expected next milestone with target timeframe. For interim updates, reference prior notes by date.)

Clinical Context & Medical Necessity

[Clinical urgency and rationale for rapid sequencing now] (Summarize patient acuity and ICU-level supports, time-sensitive clinical decisions pending results, the clinical question sequencing should answer, and why alternative testing is inadequate. If relying on prior documentation, reference note date and abbreviate. If any element is unknown, explicitly write "Unknown.")

Test Order & Consent

(Include full details for Order + Consent notes. For other note types, reference prior consent note by date and document only new decisions.)

Test Ordered: [rapid GS / rapid ES] — [singleton / duo / trio] (Add-ons: [mtDNA / CNV / repeat expansion / other / None])

Laboratory/Program: [Program or lab name]

Specimens: [Proband sample type and collection date; parental/family samples with relationship as reported]

Expected TAT: [Program-specific estimate in days]

Consent Details: [Consenting party and legal authority; persons present including interpreter if used; mode (in-person / telephone with identity verification)]

Consent Discussion (confirm topics addressed): purpose and clinical question; possible result categories (diagnostic, VUS, non-diagnostic); test limitations; unexpected findings (secondary findings, misattributed parentage); implications for family members; data storage and future reanalysis.

Patient/Family Choices:

• Secondary findings: [Opt-in / Opt-out / Not applicable]
• Other elections if offered: [research use / data sharing / Declined]

Consent Outcome: [Obtained / Declined / Deferred] (If declined or deferred, document reason and alternative plan.)

Results & Management Impact

(Include for Results Disclosure and Amended Interpretation notes only. Omit for Order + Consent and Interim Status Update notes. Import or quote variant details directly from the lab report rather than retyping nomenclature.)

Report Status: [Preliminary / Final / Amended] — [Report date] — [Chart location]

Primary Findings: [For each clinically relevant finding: gene/variant/zygosity; classification (pathogenic / likely pathogenic / VUS / likely benign / benign); inheritance and segregation; phenotype correlation; clinical implications]

Uncertain Findings: [VUS description if applicable] (State whether it explains the phenotype, whether it changes management now, and what evidence could upgrade or downgrade classification.)

Secondary Findings: [Not elected / None returned / Finding(s) disclosed with follow-up plan]

If Non-Diagnostic: [Summary of what was evaluated, key limitations, and next-step plan (reanalysis timing, additional testing)]

Management Changes: [Actions attributable to sequencing results with timestamp and responsible service—e.g., medication started/stopped/avoided, procedures pursued or avoided, diet/therapy initiated, consults triggered, goals-of-care decisions] (If none, state "No immediate management change" with brief rationale.)

Plan

Family Implications: [If diagnostic: relatives at risk, cascade or carrier testing recommendations, recurrence risk, reproductive counseling plan]

Reanalysis: [Recommended / Not recommended] — [Suggested timing, e.g., 6–12 months or if phenotype evolves] — [Triggers for recontact]

Follow-up: [Referrals placed; confirmatory testing status; where lab report and consent forms are filed; next touchpoint with family and primary team]

(Do not fabricate dates, consent choices, sample status, or result content. For mandatory fields, use "Unknown" or "Not yet available" if information is missing.)