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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


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