Reporting Standards — HGVS, HPO & Clinical Narratives — Hands-on

Learn how to deliver clear, standardised clinical genomics reports using HGVS nomenclature, HPO phenotypes and well structured clinical narratives. This module connects variant level details and phenotypes to report sections, comments and caveats, so that busy clinicians receive concise, decision ready outputs with a consistent look and feel.

Reporting Standards — HGVS, HPO & Clinical Narratives

Help Desk · WhatsApp

Session Index

Session 1 — HGVS Nomenclature Essentials Session 2 — HPO, Phenotypes & Structured Findings Session 3 — Clinical Narratives & Report Templates Session 4 — Mini Capstone: End-to-End Report Draft

Session 1

Fee: Rs 8800

HGVS Nomenclature Essentials

Why standard nomenclature matters in reports

clarity across labs unambiguous communication alignment with databases

HGVS at DNA, RNA and protein levels (high level)

c. g. p. notation concepts substitutions and indels overview reference sequence awareness

Common reporting patterns and pitfalls

consistent gene and transcript fields duplication vs insertion wording long variant truncation mindset

Session 2

Fee: Rs 11800

HPO, Phenotypes & Structured Findings

Phenotype capture and the role of HPO terms

why structured phenotypes help linking to disease databases (conceptual) longitudinal updates mindset

Building a basic findings section with HPO support

free text plus HPO codes primary vs secondary features negative findings documentation snapshot

Connecting phenotypes, variants and impression

phenotype match strength idea variant contribution narrative remaining diagnostic gaps

Session 3

Fee: Rs 14800

Clinical Narratives & Report Templates

Core sections of a clinical genomics report

indication and methods snapshot results and interpretation limitations and recommendations

Writing concise, clinician friendly narratives

plain language summaries avoiding jargon where possible highlighting key actionable points

Templates, style guides and consistency checks

standard layouts for labs checklists before sign off version and template control mindset

Session 4

Fee: Rs 18800

Mini Capstone: End-to-End Report Draft

Start from a small set of curated variants and phenotypes

Theory + Practical

Build a structured report skeleton with HGVS and HPO entries

variant table snippet phenotype summary block interpretation and limitations

Write a report ready narrative paragraph

key findings and impression caveats and follow up suggestions alignment with lab style guide

PDF

Reporting Standards — HGVS, HPO & Clinical Narratives Training | Structured Clinical Genomics Reporting

Reporting Standards — HGVS, HPO & Clinical Narratives — Hands-on