Any update ?
OFA Fanconi Results
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They (the team that is doing the ongoing fanconi research) is still trying to perfect the test. THAT to me is a research game. When the test becomes a positive 100% match test and no longer a probable test, then, and only then should it be relied on 100%. Anything less gives it a highly probable-but still probable-chance of the test being wrong. While the current test is highly indicative of the odds being correct it's still not 100%. Again this is IMO. An excerpt from the Basenji Health Endowment site states:
This is a new test. We can report that all of the double-blind samples used for validation fell into one of the four categories (normal, carrier, affected, indeterminate) and that approximately 75% of the samples that tested affected were already known to be affected and none of the samples that tested normal were known to be affected, or had parents that were known to be affected. About 10% of the samples tested returned an indeterminate result.
Hope you don't think I'm nuts, but I'm leary considering 10% is indeterminate. This means to me out of every 10 dogs 1 may or may not be affected.
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The number of indeterminates is currently at 4% of the dogs tested and has held consistently at this number once we had a significant number of tested dogs. It is also important to understand that an indeterminate results is not caused by the test not functioning it was actually designed in such a way that the researchers would be able to tell if the markers may have broken away from the gene.
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I guess I just didn't understand why you called it game….
The indeterminantes are between clear and carrier...not affected at least so far. As long as you breed an indeterminant to a clear, it should be fine. At least the way I understand it.
That being said, I am putting my faith in this test...but I am not ready to declare it "perfect" yet. Time will tell...and I think every reasonable breeder feels that way as well...
There does seem to be some possiblity that there are dogs that are testing out as affecteds and carriers by the test, and the genetically inherited pattern, but are not symptomatic at least yet. Which is great for them, and their owners/breeders, and a mystery to be unraveled. But I have not heard of any dogs which tested clear and developed symptoms.
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MOST responsible breeders are testing. I would hope though, that this is used in conjuction with the pedigree. This test is not 100% yet. Although close, it's still a probable test and not a 100% that a dog will develop fanconi symptoms. It's still a reasearch game.
There have been over 800 Basenjis tested and there is not one result that has come back that an affected produced a clear or that a clear produced an affected. While it is a linkage test, I think the results are pretty much right on … and what we do not know about Fanconi is that there could be lots of Basenjis that have the genes for Fanconi and never develope the symptoms...
As far as I am concerned it is 100% right on. Not to say that if I had an affected that I would not re-test -
Again, (I knew I would get shot at) this is MY OPINION. This test is stated by the people who developed the test that this is not 100%. Not every dog that has the Fanconi gene will develop symptoms. I have never said that. In fact there are a lot of dogs who will probably never develop symptoms. MY OPINION is that this is a complex recessive gene. Not a simple recessive gene. The results are not right on if there is an even 1% chance of indeterminate. As I said when they develop a test that is 100% right ALL of the time with no indeterminate then I will wholeheartedly rely on the test. Also this test was just put into practice this year. A new test (no matter what kind of test) will always have a few bumps and kinks. If this is a simple recessive then of course the offspring will not produce it. However, if this is a complex recessive gene it could, theoretically, disappear throughout generations and then suddenly pop up. I have always (when dealing with gene therapy) have said never say never. As I have said before - YOU have your opinion; I have mine. I will still practice being safer than sorry. For me, to place my trust in a new test that has been stated NOT to be 100% accurate is not for me. I will use this test, however I will also always look at the background pedigree.
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Again, (I knew I would get shot at) this is MY OPINION. This test is stated by the people who developed the test that this is not 100%. Not every dog that has the Fanconi gene will develop symptoms. I have never said that. In fact there are a lot of dogs who will probably never develop symptoms. MY OPINION is that this is a complex recessive gene. Not a simple recessive gene. The results are not right on if there is an even 1% chance of indeterminate. As I said when they develop a test that is 100% right ALL of the time with no indeterminate then I will wholeheartedly rely on the test. Also this test was just put into practice this year. A new test (no matter what kind of test) will always have a few bumps and kinks. If this is a simple recessive then of course the offspring will not produce it. However, if this is a complex recessive gene it could, theoretically, disappear throughout generations and then suddenly pop up. I have always (when dealing with gene therapy) have said never say never. As I have said before - YOU have your opinion; I have mine. I will still practice being safer than sorry. For me, to place my trust in a new test that has been stated NOT to be 100% accurate is not for me. I will use this test, however I will also always look at the background pedigree.
A simple recessive gene can disappear and pop up generations later, just look at the Tri gene… so I don't agree that this is a complex recessive
And judging results we have seen so far, good luck in looking at pedigrees, while people have been doing pretty darn well I believe that the luck would have turned drastically to the bad side. Judging by the amount of carriers, IMO... in 5 years if we had not had this test we would be over run with Fanconi dogs. And what makes you think that there will not be a "+/-" factor with the direct test?
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The issue of expression or lack there of is separate from the inheritance of the gene itself. There is much new research into what was previously called "junk" DNA because it did not code for proteins and is therefore not part of "genes" but it has now been found that these sections of DNA do hold the key to the on/off switches for genes. It may be many years before scientists know why there is variable expression of Fanconi Syndrome in basenjis that does not mean the linkage test is not correct nor does it mean that when a direct test is available there will not be dogs that have two copies of the gene but it will not get turned on, that does not make the test inaccurate.
Also the "tri" gene does not disappear for generations, it is not expressed but it is still passed down. It takes 2 copies of the gene for expression to occur and the best way to think of the variable expression of Fanconi is to think of it like how we get different expressions of "tri" like Barred, Capped, Muddy, and those who lack all tan points. All of them are genetically "tri" but there are other modifiers completely separate of the "tri" gene at work. The same thing may also be true of Fanconi but you can still get rid of the disease in the population by preventing any individuals with 2 copies of the gene from being born.
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I believe that since there have been over 800 tests done and the results have shown to be true that we can trust this test… I can tell you that I am rethinking many dogs that in the past I would not have given the time of day to for breeding.
Certainly it is better then what we had before July 2007...
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And to just add that I trust the test more that I trust pedigrees or what others tell me…. this backs up the word.... no more "not in my line"... thank goodness... now they have to put their money where their mouth is....
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I do trust the test- to a point. I just want to what is behind it that MAY have produced a problem. I would not trust what a person says when they say "I've never had a fanconi problem". They may have produced a dog as a carrier and not known it. And I know of a few "high end" or "popular" breeders who have a multitude of dogs and list one dog as sire but that is not the actual sire.
And yes, I agree that no test is technically 100% but if they say the test is 100% then it sould be dang close. I call all research a 'game' Andrea, because there is nothing to say that one thing could not be done by one team and be right. (if that makes any sense) There have been numerous instances when a team is looking for one thing and stumbles onto something else. It reminds me of rats in a maze. They chase the ultimate end and what is the result is used in other tests. It's a big circle. I don't think it's a conspiracy, mystery, or that there is a hidden agenda. But all research chases an end result. And don't forget, research can be flawed. Look what happened with the Thalidamide babies. The teams researched and tested and 10 years after they started giving women this drug for morning sickness it was finally linked to deformations. There are many other instances as well, THAT is why, IMO, it's better to combine researches than just to rely on one test.
And you're right Pat. I have been rethinking dogs as well that I may have used previously. And if they resist having the dogs tested, then you kind of wonder why they don't want to test. This may indicate a problem only they are aware of and I, personally would not want to deal with the person then.
If it's a question of money, then I would want to work with the person, if the dog in question is what I really want.I'm definitely not saying that I don't trust the test, or I wouldn't use it. But, I want to know what could be behind that dog that may cause a problem.
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I can tell you that I am rethinking many dogs that in the past I would not have given the time of day to for breeding.
Same here! This new test has opened up a whole list of stud prospects that I would have never considered prior.
It is also important to understand that an indeterminate results is not caused by the test not functioning it was actually designed in such a way that the researchers would be able to tell if the markers may have broken away from the gene.
Lisa is correct. Indeterminate results are due to a particular dog's genes not being completely readable and NOT due to the test itself.
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This test is stated by the people who developed the test that this is not 100%.
Virtually no medical test is 100%. The test was listed as preliminary to distinguish it from direct tests (tests for the actual gene) which are nearly 100% and are arguably the most accurate tests you can get.
MY OPINION is that this is a complex recessive gene. Not a simple recessive gene.
I haven't, to date, seen any evidence does not fit simple recessive. Is there a particular reason for your belief?
The results are not right on if there is an even 1% chance of indeterminate.
I think you are misunderstanding what indeterminate means, as it does not suggest that the results are "not right on." Indeterminate means one of the 3 markers has crossed over - no more and no less - and means that the dog's DNA state cannot be determined using this test. It is not a testing error.
As I said when they develop a test that is 100% right ALL of the time with no indeterminate then I will wholeheartedly rely on the test.
I agree that a direct test is better, but no test is 100% right all of the time - even direct tests have the potential for lab error. All medical tests (not just DNA tests) have false positives and false negatives. Many of the medical tests we humans rely on are less accurate than the marker test.
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Well, I agree with Lisa, Lisa and Pat….
I'll take the 10% IND results (yes, we got a few of those) along with the other results.... quite frankly I would have preferred IND over some of my affected results...
What can I do with an IND dog? use it bred to a clear until the mutant gene test is available.
Until then, we obviously have no issues since we (as a kennel, Mom and I) tested 30 dogs (both intact and altered pets) since the test became available.
Those NOT using the test are NOT breeding wisely, as it (that nasty recessive mutant gene) is there, and many bloodlines that have been tauted as clean have popped up with both carriers and affecteds. -
Well, I agree with Lisa, Lisa and Pat….
I'll take the 10% IND results (yes, we got a few of those) along with the other results.... quite frankly I would have preferred IND over some of my affected results...
What can I do with an IND dog? use it bred to a clear until the mutant gene test is available.
Until then, we obviously have no issues since we (as a kennel, Mom and I) tested 30 dogs (both intact and altered pets) since the test became available.
Those NOT using the test are NOT breeding wisely, as it (that nasty recessive mutant gene) is there, and many bloodlines that have been tauted as clean have popped up with both carriers and affecteds.Well put Kathy… and if you look at the results (over 800 now on OFA site) and the number of carriers... this to me shows that breeders have been trying their best to breed healthly dogs in regards to Fanconi, but without this linkage test... IMO... we would have been in a world of hurt in just a few years.... Now we can rid our breed of Fanconi... forever!!!! And on top of that still keep the gene pool....as there is no reason to throw out dogs now if responsible breedings are done. Kudos to those that are testing.. and shame on those that are not....
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Hmm, I see Keoki's results are in – have been posted for over a week, but nothing still for Jazzy.
Why would that be -- the blood was sent in at the same time. -
Hmm, I see Keoki's results are in – have been posted for over a week, but nothing still for Jazzy.
Why would that be -- the blood was sent in at the same time.They run x numbers of tests at one time…. so it is totally possible that Keoki's was in the one batch, Jazzy's were not... they don't look at who sends them in, they just fill up the test trays.... and some get bumped for ones that are breeding this year..
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For those who are commenting on those who have not used the test yet. I am one of 'those' but since I have no breedings planned - it seeme prudent to wait until those who were breeding or had bred recently got their stuff done. I haven't bred a litter in 4 years (maybe 5, I forget).
I like to think that others are waiting, like me.
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I was told…. so it's not "from the horse's mouth" but I thought a reliable source...that the testing was originally geared for those currently breeding, but has since opened up for everyone. IF that's true, then you're probably good to go any time.
But again, I'm going on what I was told.
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BUT - if I'm not planning on breeding until POSSIBLY next fall - why not wait a bit and see if the full test becomes available before then? I know that there are folks who are just not going to test, some we know, some we don't some we know are puppy mills, some are just obstinate
I just want folks to stop and think that there are some of us just waiting - no reason to test right now and if a more complete test is going to be available - why not wait.
