On the EAOD Test currently offered by projectDOG
The ABCA and ABCA Foundation are very concerned about early adult onset deafness (EAOD) in working Border Collies. We have spent years studying this condition, fostering research, and considering the best way forward. The condition is devastating for owners of individual dogs, for individual breeding programs, and most importantly, for the long-term health of the working Border Collie gene pool. The conclusions contained in this statement were not made hastily or lightly. They were arrived at after serious and lengthy consultation with Mark Neff and Alison Ruhe, the team behind projectDOG, and after seeking second opinions from a number of well respected scientists in the field of genetic research from around the country.
ABCA has provided extensive support to Mark and Alison in their past research, including EAOD and epilepsy. Unfortunately, we are unable to endorse the test for EAOD they are currently selling, because we are not able to properly verify the claims they are making for it.
ProjectDOG claims that the results of this test will be perfectly predictive (clear, carrier, affected) for the vast majority of dogs tested, and that it is not possible for those results to be wrong. They say that only in rare cases (percentage not given or estimated) would the results be inconclusive.
How many Border Collies in each phenotype have been tested by this team? Without knowing that, there's no way to know how valid their claims are. We know that they collected many, many samples over the years, but that not all samples were tested. We know that they have told us in the past that they believed they had the definitive test for EAOD, only to find, after studying more dogs, that they did not. The research data on which their current conclusions are based determine the trustworthiness of the test, but the researchers behind projectDOG have not chosen to share this data (e.g., number of dogs tested, how tested, phenotypical information obtained, further research or data analysis, etc.), either with us privately, or with the scientific/research community in the form of a publication, or on their websites.
As far as can be determined by us and outside scientific researchers in the field, they have not excluded the possibility that the causative (but thus far unidentified) mutation is somewhere other than within the five variants they are studying. If the actual causal mutation is elsewhere, providing results for those five variants does not necessarily provide results for EAOD. In short, this appears to be an intermediate research test: one that provides a good basis for further research, but which may or may not prove valid.
It is an individual's decision whether to purchase the test or not. However, there are reasonable scientific concerns about the test, with far-reaching implications for the working Border Collie breed. It's possible that the assumptions on which this test is based will prove to be correct, but it's possible they will prove to be incorrect. If they are correct, the test could be useful to breeders and helpful in research. If they are not correct, breeding and culling decisions made by breeders relying on the test could have long-term detrimental effects on our working gene pool. The best-case scenario would be for their claims to be correct, and we hope that they are, but we do feel that where the stakes are so high, there are enough reasons for concern for us to be cautious in our approach to the proposed test. It's important that people understand the test's limitations. Once they do, they should make their own decisions about whether to purchase it and how to use it.
The ABCA Health & Education Foundation is currently pursuing a different research direction in the quest for a definitive EAOD test. We expect to be able to announce details of this initiative very soon. With two different research projects by two different teams using different approaches, we feel the causative mutation for EAOD (and any modifier genes) will be identified sooner, which is what we all want.