# Interesting wording for genetic test results



## Sleeping_Lion (Mar 19, 2009)

As many will no doubt know, I've recently had Tau tested for gPRA, via Idexx, who submit the samples to Optigen in the US.

I knew Tau's status, and have had the results back from Optigen, and today got a letter with the results from Idexx. This is what it says:

_Mutation: non
Genotyp: N/N

The tested dog is homozygous for the intact gene. It is not carrying the mutation for prcd-PRA, which is discussed as the cause of this type of PRA. The risk for this dog to fall ill with this type of prcd-PRA is extremely low. The tested dog can be paired with any dog because the risk for the offspring to fall ill with prcd-PRA is very low. _

The wording, to me, is very non-commital, and indicates that the genetic test is possibly not 100% fool proof. I know when the test was first developed, it did not work as it should, and some dogs that tested clear/normal, were later shown to have either a carrier or affected status.

We rely on these tests so much, and the clear syndrome is becoming very ingrained with some folk, I thought it worth noting that even the genetic testing companies are covering their own backs, just in case the test isn't as infallible as we like to think. I've said before, that I think it's worth re-testing every couple of generations to prove the results are correct, rather than rely on clear by parentage status to carry on through the lines.

Any thoughts?


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## babycham2002 (Oct 18, 2009)

Yes I agree, covering themselves with the wording.
I havent seen the results before, are they always written in that manner?
I 100% agree with testing every few generations just to be sure as well.


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## shetlandlover (Dec 6, 2011)

> The risk for this dog to fall ill with this type of prcd-PRA is extremely low.


Eeep!

That sounds a little on the fence, surely if your dog is unaffected it can't develop it? I am guessing the test works similar to CEA?


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## rocco33 (Dec 27, 2009)

How strange - I wasn't aware that Idexx did the testing. Is there any benefit of going via Idexx rather than directly to Optigen?

I have only gone straight to optigen and they are rather more emphatic LOL:

Taken from Optigen test result:

_Test Results: Genotype of your dog is Normal/Clear

Risk for developing prcd-PRA: This dog will *never* develop the prcd form of PRA. So far the only inherited PRA diseason known in dogs of your breed is the prcd form of PRA.

Significance for breeding: Genetically Normal/Clear dogs can be bred to any dog and will produce no pups affected with the prcd form of PRA._

PS emphasis in bold is mine


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## rocco33 (Dec 27, 2009)

Just to add, I doubt they think the test is unreliable (why would they use it) rather that they are just covering their backs, particularly as the test was not developed by them.


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## Sleeping_Lion (Mar 19, 2009)

Idexx use Optigen, so the bloods are sent to Optigen to be processed, but Idexx also issue a result if you test via them. Tau's Optigen results read that she will never develop the prcd form of PRA. However, there are still disclaimers on the Optigen report when you read through it.


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## Set_Nights (Sep 13, 2010)

How is the test actually done? Blood sample?

Just sounds like they are covering their backs. This is understandable business practice even without a reason being needed. However, I suppose there are some very rare genetic anomolies that means they could hypothetically test negative but still get the condition but as said, very rare and usually not worth considering. There is also the possibility of mutation happening during development that means the offspring of a clear dog could end up affected but this would again be rare.


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## swarthy (Apr 24, 2010)

rocco33 said:


> How strange - I wasn't aware that Idexx did the testing. Is there any benefit of going via Idexx rather than directly to Optigen?
> 
> I have only gone straight to optigen and they are rather more emphatic LOL:
> 
> ...


Idexx are cheaper - but I know people who have sent their results to the KC, and they've not been added to the health database - therefore pups cannot be registered Clear By Parentage by the KC - which for me, sort of defeats the purpose of testing - Optigen do offer a heavily discounted test for dogs for which both parents are tested clear by them.

Just been looking at the wording on an Optigen report for a Carrier - which is more defined than your Clear report from Idexx

===============================

Test Results: Genotype of your dog is Carrier.

Risk for developing PRA: This dog will *never* develop the prcd form of PRA (progressive rod-cone degeneration form of Progressive Retinal Atrophy). So far, the only inherited PRA disease known in dogs of your breed is the prcd form of PRA.

Significance for breeding: Carrier dogs should be bred only to a mate of Normal/Clear genotype to avoid producing pups affected with the prcd form of PRA.

================================



Set_Nights said:


> How is the test actually done? Blood sample?


Through Optigen - Blood test or Mouth Swab (and dog must be microchipped)

No idea with Idexx - Optigen own the world-wide patents on PRA testing - hence why other companies have fallen by the wayside in the past when trying to offer cheaper tests.


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## Sleeping_Lion (Mar 19, 2009)

The same for Idexx Swarthy, as they submit bloods/swabs to Optigen for processing, I chose to submit bloods for Tau. I can't understand the KC not accepting Idexx results, because they are done through Optigen (at least for this particular genetic test), and you get a set of results from both of them, so that seems odd  

The optigen result, which I also received, has a disclaimer as well. "This interpretation is based on the test result of the DNA test for the specific mutation identified as causing the prcd form of PRA in Labrador Retrievers as of the date on this report." 

I do plan to test again for PRA, possibly not from this planned litter, but perhaps the next, or the one after that, I haven't decided. I don't think I could trust the results that far down the line, without checking every couple of generations or so, to see whether the status is still as it *should* be. I personally feel that to rely on a genetic status, without confirming it, may well be irresponsible, what happens if the test is proven to be unreliable in the future? There's also the problem of human error creeping in, that may mean dogs aren't given the correct status, and those relying on this without checking again in the future, could end up using a dog, or dogs with the incorrect status. Maybe I'm over cautious, but that's my take on the genetic tests.


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## Devil-Dogz (Oct 4, 2009)

Hm thats abit strange, comparing to the wording from optigene!



> The tested dog can be paired with any dog because the risk for the offspring to fall ill with prcd-PRA is very low.


The above also worries me.. :skep: I dont think you can put such a statment with out putting the true risks of putting a clear to an affected/carrier. Surely you cant just say, the risk of the offspring becoming 'ill' is 'low'.


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## swarthy (Apr 24, 2010)

Devil-Dogz said:


> Hm thats abit strange, comparing to the wording from optigene!
> 
> The above also worries me.. :skep: I dont think you can put such a statment with out putting the true risks of putting a clear to an affected/carrier. Surely you cant just say, the risk of the offspring becoming 'ill' is 'low'.


Yes - it is a little worrying when it Optigen results from a carrier clearly state the dog will never become ill - yet a clear through Idexx says the risk is low 

There will always be the 'human element' disclaimer - it has to be there really - but I guess - when using a third party - there are also more risks of human error along the route 

SL - have you spoken to the KC about using Idexx - as they have definitely not put the results on the database of dogs I know who';ve been tested through them


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## Sleeping_Lion (Mar 19, 2009)

swarthy said:


> Yes - it is a little worrying when it Optigen results from a carrier clearly state the dog will never become ill - yet a clear through Idexx says the risk is low
> 
> There will always be the 'human element' disclaimer - it has to be there really - but I guess - when using a third party - there are also more risks of human error along the route
> 
> SL - have you spoken to the KC about using Idexx - as they have definitely not put the results on the database of dogs I know who';ve been tested through them


No, although I haven't checked very recently, the test results weren't on there, however, I do, as I say, have two results, including the one from Optigen, and others who've used the same test through Idexx have had no problems. If it gets to the end of Jan and there are still no results for this test on the KC database, I'll scan the optigen paperwork and send that through for them.

I personally think the wording is the way each company is just covering their backs. Nothing is infallible, and the tests are also open to human error, but I think it's a good reminder to those using them that it isn't too good to rely on something as 100% reliable throughout numerous generations.


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## rocco33 (Dec 27, 2009)

> I personally think the wording is the way each company is just covering their backs. Nothing is infallible, and the tests are also open to human error, but I think it's a good reminder to those using them that it isn't too good to rely on something as 100% reliable throughout numerous generations.


I agree, as you say there is always the possibility of human error and that at a later date the test may be found to be erroneous. However, I do think there is a difference between the way the disclaimers have been worded. The optigen disclaimer is just that - a disclaimer. The Idexx wording implies that the risks are low with a clear to clear mating which is something very different as it implies there is still a risk of mating clear to clear.


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## Sleeping_Lion (Mar 19, 2009)

rocco33 said:


> I agree, as you say there is always the possibility of human error and that at a later date the test may be found to be erroneous. However, I do think there is a difference between the way the disclaimers have been worded. The optigen disclaimer is just that - a disclaimer. The Idexx wording implies that the risks are low with a clear to clear mating which is something very different as it implies there is still a risk of mating clear to clear.


I agree, my job requires me to cover my back constantly, and I am used to lots of various worded paragraphs to say things like, 'no problems noted at the time of the examination', so I sorted of understand the need for disclaimers, odd how they are so different though.


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## swarthy (Apr 24, 2010)

Sleeping_Lion said:


> No, although I haven't checked very recently, the test results weren't on there, however, I do, as I say, have two results, including the one from Optigen, and others who've used the same test through Idexx have had no problems. If it gets to the end of Jan and there are still no results for this test on the KC database, I'll scan the optigen paperwork and send that through for them..


I hope so - I did post on here a while ago that a number of people sent their results in (over a year ago in some instances) and they've not been displayed on the public database and still aren't


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## Sleeping_Lion (Mar 19, 2009)

I can't imagine why the KC wouldn't accept the results as they are really from optigen, does your paperwork look the same?










Neither the bva eye cert nor the pra status is on the KC database yet, but I can scan and send if necessary, and I can't see why, if the paperwork is from Optigen themselves, the KC wouldn't accept it?? We'll see!


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## Burrowzig (Feb 18, 2009)

rocco33 said:


> I agree, as you say there is always the possibility of human error and that at a later date the test may be found to be erroneous. However, I do think there is a difference between the way the disclaimers have been worded. The optigen disclaimer is just that - a disclaimer. The Idexx wording implies that the risks are low with a clear to clear mating which is something very different as it implies there is still a risk of mating clear to clear.


I guess there's also the possibility that, even if all ancestors test clear, the disease could arise again in future generations. After all, it's a genetic mutation. If a mutation has happened previously, you can't be sure it won't happen again.


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## SharonM (Mar 2, 2010)

If you email the scanned copy of the Optigen result it will be added overnight, I've done this a few times when for some reason or other my girls results haven't been published.

I have also today had a reply from the KC as I was asking about Laboklin who offer the same pra test as Optigen, this was their reply:-

Thank you for your email. We are informed that there is a legal dispute
over the rights of Laboklin to offer the prcd PRA test commercially.
The test was developed and marketed by a company called Optigen in the
States, which took out a worldwide patent, which we are informed is
still in operation. As we understand there is a dispute between Optigen
and Laboklin and until this is resolved the KC will only be publishing
the outcome of Optigen tests. However, we want to stress that our
position on this stems purely from legal ramifications and we have
absolutely no reason to question the quality and reliability of the test
offered by Laboklin. Indeed we do already have arrangements with this
company to record the outcome of other DNA tests that it undertakes.

Kind regards

Nicola Caton
Health and Breeder Services Department
The Kennel Club, 1-5 Clarges Street, London W1J 8AB
Tel: 0844 4633980
Fax: 0207 518 1028
The home for dog owners and those working with dogs - The Kennel Club


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## dimkaz (Jul 27, 2009)

hi,
the reason is pretty simple (and i would tend to agree with the way Optigen put it rather than the other):
the tests for as much accurate as they are (and they are pretty accurate) are nonetheless based on a probabilistic model and the chances of a misreading, for as small, are still there.
for similar tests in humans when regulations are much stricter also the range of probability (and the relative disclaimers) should be added and if you happen to see the results of any amniocentesis performed on a pregnant human you'll see it clearly.

hope this help
best
D


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## natty01 (Sep 4, 2011)

ok you may think what im about to say is irrelevant but it may not be . 

first off i know nothing about genetic tests for dogs , so my experience is just a human one . 

when i was born i had some issues so my mum had some tests and i had some tests and it was deemed that i was basically a freak and my issues wernt genetic and that my mum was fine to have another baby . 

she did and my sister was fine . 

in my early 20s i spoke to my dr since i knew i wanted to have kids one day , i had some tests done and again i was given the all clear and told i wouldnt be passing anything to my kids . 

so i had two . 

a few years ago i got quite sick with my condition so again i was at the hospital and a new batch of genetic testing was run .

hey presto i now have a very rare genetic disorder and had a 1 in 6 chance of passing it on to my children !

needless to say i wont be having any more but OMG i was livid i told my mum and she was just in denial but i am furious that i had on several occasions been told it was fine to have kids and that i wouldnt give them an illness .

now as it happens neither of my kids have inherited it BUT what about them when they want kids ? what about my sister if she chooses to have kids ? 

furious doesnt even come close to how i feel , so i can understand the testing companys using shady language to protect themselves , i think stuff is being learnt every year that changes the situation , so what may be an all clear now may not be in 10 years from now.


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## swarthy (Apr 24, 2010)

natty01 said:


> ok you may think what im about to say is irrelevant but it may not be .
> 
> first off i know nothing about genetic tests for dogs , so my experience is just a human one .
> 
> ...


I am sorry for the experience you are feeling, and I can only begin to imagine the anger you are feeling - luckily, your children haven't inherited the gene, which is a real positive.

The genetic landscape for dogs and humans is moving all the time - I have to say, if you looked at genetic markers for so many conditions in humans, you could be forgiven for wondering why anyone procreates 

In my 40's - I've had high BP for over 10 years courtesy of my dad, severe back problems courtesy of both parents - pernicious anaemia (which both my parents had) and iron deficiency anaemia. I also have eczema and coeliac - which do both have family links.

My nephew has Aspergers, it is only now known that is father, grandfather and uncle all had conditions on the ASD spectrum - they lived with it for many many years.

My sister had breast cancer at 47, my cousin cervical cancer at 31, my aunty Breast Cancer in her 70's - and I've had more than four scares now.

Unfortunately - science is what it is - and we will never have all the answers - this goes as much for dog breeding as for human procreation (which is ostensibly a lot more risky) because of all the unknown and undetected recessive genes around which just might be paired together by random chance (and why cross-breeding in dogs is no more likely to produce healthy offspring than good line-breeding because there are so many more unknowns)

We can't offer guarantees as such - we can only do our best with the tools we have - and situations such as this do highlight why it is so important to consider very carefully before removing any dog from a gene pool on the basis of a single result which is highly unlikely to cause an issue in it's progeny.


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