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Difference between revisions of "201901 Clinical Genomics"

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===Register a New Sequence and Observation===
 
===Register a New Sequence and Observation===
 
===Register a New Genomics Report===
 
===Register a New Genomics Report===
 +
===Scenario 1 PGx (placeholder)===
 
===Scenario 2 Clinical Sequencing - Germline Testing===
 
===Scenario 2 Clinical Sequencing - Germline Testing===
 
===Scenario 3 Family Member History===
 
===Scenario 3 Family Member History===

Revision as of 15:18, 29 October 2018


Clinical Genomics Track

Zulip Chat

The Zulip Chat will be used to coordinate among participants during the connectathon:

Zulip Chat


Submitting WG/Project/Implementer Group

Justification

Genomic data are of increasing importance to clinical care and secondary analysis. After initial Feedback from the first ballot of the Clinical Genomics Implementation Guide, considerable updates have been made, and the recently balloted IG and profiles should be tested in the Connectathon for more feedback and trial use.

Proposed Track Lead

Gil Alterovitz


Expected participants

Gil Alterovitz, James Jones, Kevin Power ...

Roles

FHIR Client

Support the sending of the Sequence resource/genetics profiles operations: create, history, read, search and update.

FHIR Server

Support the receiving and processing of the Sequence resource/genetics profiles operations: create, history, read, search and update.


Scenarios

Register a New Sequence and Observation

Register a New Genomics Report

Scenario 1 PGx (placeholder)

Scenario 2 Clinical Sequencing - Germline Testing

Scenario 3 Family Member History

Scenario 4 Clinical and Research Data Warehouses

Scenario 5 HLA Typing

Scenario 6 Comprehensive Pathology Report

What else?

TestScript(s)

Security and Privacy Considerations