Track#6 - Genomics

聯測要求

Support the sending of the MolecularSequence resource/genetics profiles
Support the receiving and processing of the MolecularSequence resource/genetics profiles
Operations: create, delete, search and update.

資安授權機制

支援JWT機制
支援權限控管機制

Role

MolecularSequence Creator
MolecularSequence Consumer
Genetics profile Creator
Genetics profile Consumer

Scenarios

Scenario 1 Create a New MolecularSequence and Observation (Source)

Action: (FHIR Client) Create a sequence instance and a genetic-profile-based observation instance to represent genetics data and interpretations (DNA variant, RNA sequence, structural variant, etc).
Precondition: The sequence instance and observation instance do not exist in service prior to action.
Success Criteria: Sequence and observation instances created correctly on server and in the desired format.

Scenario 2 Retrieve Clinical Sequencing - Germline Testing (Consumer)

Action: (FHIR Client) Search target genetic-profile-based observation with given patient ID.
Precondition: Relevant patient and observations have been created.
Success Criteria: A bundle of genetics observations from germline analysis of that patient are returned.
Bonus point: More parameters can be added for searching

公開技術規格 : https://mitw.dicom.org.tw/preconnectathon6.html