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Eileen Stein

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  1. I sure hope so — the researchers are working intensively on this from several different directions and are optimistic — but I’ve learned that you never know with science. If so, it will have been well worth waiting. But in any case, we will be issuing another statement within a year, reporting where we are at that point, and reassessing the best ways to proceed in light of that.
  2. Here's the full paragraph, from which you quote one sentence: The ABCA HEF does not endorse this marker test, nor do we encourage people to test at this time, before the causative mutation is found. But at the same time, we are not telling people not to test. The test does have some significant benefits, especially for someone whose dogs have deafness somewhere in their pedigree and who must make a breeding decision in the immediate future or who is considering buying or beginning the training of a young dog with deafness in its pedigree. The presence of deafness in a pedigree greatly increases the chances that the marker set will be associated with a causative mutation. The decision whether to purchase the test at this stage is yours alone, but in making that decision here are some factors we think you should consider. [Emphasis added] I don't know, Liz. Do you have to breed all of your bitches within the next year? I'm not familiar with them, so I don't know how urgent the need is. If you feel that you do, then yes, find a stud who tests Clear, while of course giving at least as much consideration to the dog's suitability as a cross with your bitches. ABCA and HEF have always encouraged utilization of tests for deleterious genetic mutations, as well as supporting the research aimed at producing those tests. But we cannot encourage wholesale testing with this marker test -- it would be irresponsible. The cause of genetic testing would not be advanced if we urged people to use a test that was later found to have given flawed results regarding their dogs. I wish the EAOD research we've sponsored had succeeded in identifying the causal mutation, as it appeared for a time it had, but ultimately it has not yet done so. We are trying to give full information about the test, and to strike a balance between the competing considerations that are implicated here. Each person must make his/her own decision about testing, including the stud owners you refer to. Also, it's important to keep in mind that, while breeding carriers to clears is often a good strategy in the short run because it ensures that the offspring will not be affected, it will not work indefinitely in a case where the deleterious gene is carried by a large percentage of the population, because its effect is to increase the percentage of carriers in the population over time.
  3. When you say "shot this test down," it sounds as if you think that we somehow prevented it from being offered, or prevented people from using it. That is certainly not not the case. The test is still there and anyone can choose to use it. Our statement is intended to make sure that people recognize the limitations of the test -- that they do not drift into assuming that the results mean more than they do. It seems to me that this is an example of someone putting more faith in the test than it merits. You are assuming that the carrier results are definitive -- that they really mean the dog is a carrier of the EAOD causal mutation. That's exactly why we felt obligated to set forth our reservations about the test. In a test that directly tests for the causal mutation, a carrier result means that the dog is actually carrying the causal mutation. Here in this marker test, the term "carrier" is really a misnomer. It does NOT necessarily mean the dog is carrying the causal mutation, which is what we were trying to explain. DO NOT LOSE SIGHT OF THAT FACT. (For one explanation of why this is so, see the attached scenario, which is an internal working document the HEF used in the course of developing our statement.) There are some situations where one might feel a need to use the test in its present form. We mention some of them in the statement. Another instance where the current test would be useful is if you are buying a pup or about to start training a dog -- a "Carrier" result for that dog would give pretty good assurance that the dog would not lose its hearing early, because it has at least one Clear set of markers. But for the many people who do not have to make those kinds of decisions immediately, waiting to see if a test for the mutation itself is forthcoming makes all kinds of sense. EAOD marker test - One Possible Explanation.docx
  4. I should have mentioned that I'd be happy to answer (or try to) any questions that anyone may have about the test or the statement.
  5. The ABCA Health & Education Foundation has published its statement assessing the current state of testing for EAOD on its website here. Also I have attached copy of it here on this thread. ABCA HEF statement on EAOD testing Sept 2019.pdf
  6. I see what you're saying, Mark, but I'm not sure I fully agree. You would take a causative mutation test to get reliable information about your dog. Miss M knows that her dog is deaf, so she is not seeking information about her dog. If she took the test, it would be mainly for research purposes, to add to the number of dogs testing the predictive value of the markers, and the accuracy of the prevalence data they purport to show. But I fully understand the financial decision she made.
  7. Journey, if backtoblack did indeed mean the 3 markers cited in the Yokoyama article when she said "the original 3," then what she wrote is incorrect. The four markers being used in the Genoscoper test are not the three cited in the Yokoyama article plus one more.
  8. What do you mean by "before"? Could you give a citation for "the original 3"?
  9. We have no way of knowing this, because projectDOG did not share the identity of their test variants with us.
  10. Happy to have an easy question to answer. There is zero possibility that this test will be patented. As part of the conditions for HEF's grant to the researchers, they agreed that they would not seek a patent on any results of the research.
  11. Because of their tight linkage, they have been inherited as a group in every dog tested so far, and there is a likelihood (but not a certainty) that they will always be inherited as a group. The results will be given as Clear, Carrier, and At Risk. AFAIK, that's true. Only if both parents test Clear would Genoscoper say that there is no need to test the pups. It seems to me it's a hardship only to those who have already had a panel done elsewhere on a particular dog. There are some testing labs (not "many," at least in the US) that offer individual test rates as well as panel rates, and some that offer a variation ($X for the first test, and somewhat less if a second tests is ordered, etc.), but $110 is very reasonable for a complete (except for CEA) panel, and my guess is that you will rarely be charged less elsewhere for the handful of tests that any careful Border Collie breeder would want. And more and more testing labs are going to a breed panel system, because adding an additional test in such cases is a minimal expense, and for a company that has the resources and capabilities of running all existing tests on a dog (as Genoscoper/Wisdom does) the research benefits are enormous. This said, I hold no preference for labs that offer panel testing only -- just recognizing the realities. HEF did insist that the researchers publish their results for the very reason of ensuring that no one testing company could have a monopoly on a test. I cannot predict when publication will occur in this case -- I don't believe anyone involved could do so -- but I strongly believe it will be within 6 months and I feel sure it will not be multiple years.
  12. Within the past week, Genoscoper began to add a test for EAOD to their test panel for Border Collies in MyDogDNA (Europe; www.mydogdna.com) and Wisdom's Optimal Selection (US; www.optimal-selection.com). They have not yet had time to add this test to their list of Border Collie tests on their websites. Nor have they had time to inform all personnel of the new addition, which probably accounts for the varied answers people have received when contacting them directly by telephone or email. I think they were not prepared for the level of intensity, urgency and initiative among US Border Collie owners. The researchers have narrowed the search for the causative mutation down to one gene and to four tightly linked variants within that gene, and those four variants (markers) are what the test will be based on. A single causative variant has not yet been identified, although work is continuing intensively toward that end. It was thought that could be done before the test was offered, and therefore that the findings could be submitted for peer review and publication before the test was offered, but despite further intense work on the project, that has not happened. As time passed, the balance between the benefit of making a test available asap vs. the benefit of identifying the causative variant before offering the test shifted more and more toward offering a marker test now, which is what is being done. Marker tests have been utilized before -- IIRC, the test for TNS was a marker test when first offered, although now it tests for the causative variant itself. But it's important that the nature of a marker test and its implications be well understood. ABCA HEF has expressed reservations before about marker tests. The HEF board of directors is currently preparing a statement on the new test, including recommendations on how the test should be used for breeding decisions. When completed, it will be posted on the HEF website. In the meantime, I will try to answer some of the questions raised based on my own knowledge of the research and the test. The mode of inheritance of EAOD is autosomal recessive; however, not every dog who carries two copies of the variants tested for will suffer early hearing loss. In the material Genoscoper/Wisdom will be supplying along with the test result report, this is described as incomplete penetrance. It is similar to CEA in this respect, since not all dogs who are homozygous for the causative mutation for CEA will have vision defects. Although they carry the mutation and will pass it on to their offspring, some of them -- usually termed "go normals" -- have normal vision throughout their lives and usually cannot be distinguished from homozygous normal dogs by physical examination of the eyes. Until peer review and publication of the research occur, Genoscoper and Optimal Selection (Wisdom) will be the only ones offering this test and its results, and they offer it only as part of their Border Collie breed panel, not as a stand-alone test. This may cause a hardship in individual cases, where people have already purchased the other tests through a different testing lab's Border Collie package, and that may cause some people to postpone ordering the test at this time, at least in the case of dogs whose pedigrees show no indications of EAOD. In any case, it is a relatively short-term hardship: It likely won't be long before publication and the test's being offered by other testing labs, and it won't be that much longer before the current, tested-elsewhere dogs age out, replaced by younger dogs who have not yet had test panels done anywhere. Offering breeding advice here will be tricky. In addition to the uncertainty, however small it might be, that's attached to a marker test as opposed to a test based on the causative mutation itself, there are at least two other factors that must be taken into account here. One is the carrier rate -- what percentage of our dogs are carrying a single copy of the variant mutation? The other is the rate of penetrance -- what percentage of our dogs who are carrying two copies of the variant mutation actually suffer early hearing loss? When it comes to breeding, we must always be mindful of balancing the risks of producing affected dogs and spreading a disorder throughout the gene pool against the risks of losing genetic diversity and valuable working traits if too many dogs are excluded from breeding. Obviously, a very different breeding strategy would be indicated if the carrier rate was very high and the rate of penetrance was very high, than if both rates were very low. As regards the carrier rate, the researchers have found the overall rate among all dogs tested to be around 35%, which is surprisingly high, given the number of dogs apparently affected by EAOD. HEF has asked to have the figures for North American dogs broken out separately, so we can see whether their carrier rate differs from the overall pool of dogs tested. Again, HEF is working on a statement regarding the test and will be publishing it as soon as possible.
  13. They will certainly let the ABCA HEF know when it's available, and we will post that info when they do. In the meantime, if you are concerned that the test may have become available without our having posted about it, you can check the Genoscoper blog.
  14. I am awaiting news as anxiously as you are. When I have some, you can be sure I will post it.
  15. That's the spirit! Just be prepared for criticism if it doesn't turn out exactly to everyone's liking.
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