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Eileen Stein

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    Shady Side, MD, USA

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  1. 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.
  2. What do you mean by "before"? Could you give a citation for "the original 3"?
  3. We have no way of knowing this, because projectDOG did not share the identity of their test variants with us.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. I am awaiting news as anxiously as you are. When I have some, you can be sure I will post it.
  9. That's the spirit! Just be prepared for criticism if it doesn't turn out exactly to everyone's liking.
  10. What Mark writes makes total sense. My contact at Genoscoper recommends waiting until the EAOD test is available before ordering already available tests. I take this to mean that there will either be a separate charge or more paperwork to go through to get the deafness test after you've already gotten the test package on a particular dog. I also take it to confirm that they really do intend to have the EAOD test on the market within a month or so, which is good.
  11. I think the answer is yes, but I will check with them to make sure.
  12. Genoscoper is a testing lab that is very focused on research. For that reason, when you request a DNA test from them, your dog will be tested not just for the known genetic disorders in its breed, but for ALL genetic disorders found in dog breeds generally. Using this methodology, Genoscoper has found a number of disorders previously unknown in a particular breed to actually be present in the genetic material of a tested dog of that breed. This should come as no surprise, since we all know that there are recessive genetic mutations in all individuals, even though they may not be known to exist because they are rare enough that two parents carrying them have so far never met up to produce offspring. It's good to conduct this kind of wide research, even though the more mutations that are uncovered this way, the more complicated and difficult it is to formulate breeding advice, and the more necessary it is to have a sound breeding strategy rather than just never breeding a dog who tests positive for a defective mutation. You can find more specific information about Genoscoper's testing for border collies here. Note that although there is no mention of testing for MDR1 under disorders, that is in fact one of the mutations tested for. It is listed under "Drug Response" rather than "Disorders." Also, you'll see that EAOD is not there yet. Genoscoper's normal charge for all this testing is about $110. However, because they have an agreement with OptiGen requiring them to pay a licensing fee to OptiGen when they administer the CEA test, the basic charge goes up to approx $130 for the whole package when the CEA test is included. In the US, the testing is provided by Wisdom Health, with which Genoscoper is now affiliated. Further information here. Their charge for the package of all tests is $130, so I think it's safe to conclude that will end up being the price. I should put in a disclaimer that this information is to the best of my understanding, and I may be off on some details. It's also true that once the research findings are published, other testing labs may begin offering the EAOD test. Speaking only for myself, I like the Genoscoper approach, because it can capture so much information, leading to more research to better understand the big picture in canine genetics.
  13. The latest word from the Discovery Manager at Genoscoper Laboratories (mydogdna.com), the company our researchers are working with, is that they regret the delay and will do everything in their power to have the test available as close to Mid-May as possible. Note: I originally posted the full email I received from Genoscoper, but have removed that because of confidentiality strictures. If you copied that email, please don't disseminate it. The key portion is what's written here.
  14. I've requested the latest information and I will post it as soon as I have it. I'm waiting not so patiently myself.
  15. My youngest dog is proof that a testicle can be retained for six months and still drop normally at that point. It's rare but it happens. At 8 weeks I wouldn't be concerned, unless there's a history of retained testicles in his line. It might never drop, but it probably will. If it doesn't, though, he will need surgery to remove it.
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