HL7 Domain Analysis Model: Clinical Sequencing, Release 1

This document covers the breadth of genetic/genomic testing use cases and clinical scenarios, discusses current challenges and lessons learned, and raises questions to consider for future implementations. This document is part of an effort to develop a clinical genomics domain analysis model (CG DAM). This model should be used to inform standards developers and implementers for the design of scalable, interoperable solutions covering the breadth of clinical genetics/genomics scenarios.

Main sections:

· Introduction

· Use case stakeholders

· Issues and obstacles

· Perspective

· Use case scenarios

· Additional use case scenarios

· Clinical genomic standard use cases and applications

· Variant classification

· Testing platforms and variant representation

· Genetic/genomic standards in healthcare IT

· Vocabulary constraints

· Review of existing HL7 clinical genomics specifications

· HL7 encapsulation of raw genomic data

· Clinical grade-genomic data file standards

· Gaps & extensions

· Outstanding questions

· Appendix – LOINC codes