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The Harmonization of Genetic Testing for Dogs (HGTD) project work includes harmonizing genetic test information across many different boundaries. That can be as simple as adding consistency to nomenclature from around the world, or as challenging as cataloging test information and research from dozens of different international sources. With so much variation in how tests are developed, and how they are released to the public, a big part of my work is ensuring that phene names we publish on HGTD are consistent, accurate, and representative of whatever genetic test a person is seeking out.
The continued review of breed-specific tests for assigning relevancy ratings, and ongoing discussions with genetic experts has led to a refinement of the breed relevancy ratings (please see: BRR) . To better accommodate the spectrum of genetic test validation, we’ve added a new orange BRR. The orange BRR indicates where all current available evidence has been reviewed, but the relevancy is inconclusive. It could be that a mutation is detectable in a specific breed, but that there is no evidence that this correlates with clinical development of the disease/phene. It could also be that the
HGTD Update: 12 May 2020 Since the last blog, we’ve had additional expert review of many Breed Relevancy Ratings (BRRs) – particular in commonly tested eye conditions, and ataxias. As we are growing our expert out-reach for input into BRRs, we are pleased to note that there is consensus between experts self-reviewing their tests as well as peer-reviewing each other. This adds reassurance to us that the current BRR estimation of combining what we can learn from research publications, phene discoverer’s expert opinions, and informal peer-review between geneticists, is working. So far, we ha