Details
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Change Request
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Resolution: Persuasive with Modification
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Medium
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Genomics Reporting (FHIR)
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1.0 [deprecated]
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Clinical Genomics
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genomics [deprecated]
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Jamie Jones / Anand Kulanthaivel : 7 - 0 - 1
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Correction
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Non-compatible
Description
Proposal:
- Have a new concept and LOINC code called "Allele Inheritance" and only include Maternal, Paternal, Unknown values - this would use/update/replace the current LOINC answer list (https://loinc.org/LL4025-4/), which should no longer be used for Allelic Phase (updates to Allelic Phase covered in a separate Jira tracker).
We received feedback about the current Allelic Phase 82120-7 Answer List as follows:
- The first 5 values are confusing, even to experts in the field. They were concerned users would misuse these values, or misinterpret them. The concepts of cis and trans are relational, but this is attempting to note them in a non-relational manner, which is confusing to experts in both the clinic and the lab.
- The remaining values (Maternal, Paternal, Unknown) relate to the inheritance of the variant. From this, the phase can easily be determined.