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Type:
Comment
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Resolution: Considered - Question answered
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Priority:
Medium
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Genomics Reporting (FHIR)
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STU3
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Clinical Genomics
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(profiles) [deprecated]
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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'
- is voted on by
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BALLOT-5466 Affirmative - Scott M. Robertson : 2018-May-FHIR IG CG R1
- Closed