Germline Profiling Data Profile
This profile inlcudes 12 data elements to capture genetic counseling and germline assay specifications.
Data Element | Data Type | Description | Terminology | Required |
---|---|---|---|---|
genetic_couns | CodeableConcept | Genetic counseling visit occurred | Code Set | Required |
gen_date_full | Date | The date of the genetic counseling visit | N/A | Required |
germ_test_rec | Boolean | Genetic counseling recommended germline testing | N/A | Required |
germline_report | Attachment | Upload the germline report | N/A | Required |
germ_report_case_id | String | The ID number from the germline report | N/A | Required |
germline_test_provider | CodeableConcept | Name of the germline test provider (select from a list) | Code Set | Required |
germline_test_prov_name | String | Name of the germline test provider (if not included in the list) | N/A | Required if known |
germline_assay | CodeableConcept | The range(s) of the DNA sequence examined | Code Set | Required |
germline_other_assay | String | Additional description if “Other” is selected in the “Germline Test Assay” question | N/A | Required |
gtest_date_full | Date | The date of the germline test | N/A | Required |
date_cur_germ_prof | Date | Date of curation | N/A | Required if known |
cur_by_germ_prof | String | The name of the curator who modified the instrument | N/A | Required if known |
Notes
1. This profile is repeatable and more than one records can be expected per patient
2. The “Code Set” is a custom set of codes defined by the JHU Team