"haplotype" in medical genetics

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    • Type: Comment
    • Resolution: Considered - Question answered
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
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      Consider Question Answered:

      The diagrams indicate it is an optional part of the model. As we refine this IG, we can try to make it more MD friendly, but IGs are typically targetted at implementers.

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      Consider Question Answered: The diagrams indicate it is an optional part of the model. As we refine this IG, we can try to make it more MD friendly, but IGs are typically targetted at implementers.
    • Clem/Scott: 15-0-0

      Input from one of our physician/geneticists, Dr. Leslie Manace. Unfortunately, I do not have a specific url/location/resource to point this comment to. I believe the WG will be able to consider this generally and apply as appropriate. Fortunately, Kevin Power was able to provide inital feedback, which I have included below.

      Dr Manace: Genetic Assertions - "haplotype" is essentially never relevant in medical genetics. This is part of what gives me pause about the MD representation in this group

      Kevin Power: There are use cases in HLA (and even some in Pharmacogenomics) where haplotype is relevant. So, this is another case of 'when you need haplotype, structure it like this - but skip it if you don't need it'

            Assignee:
            Unassigned
            Reporter:
            Scott M Robertson
            Watchers:
            1 Start watching this issue

              Created:
              Updated:
              Resolved: