Incorrect Certified Pra Result Issued

[Kalevi]

Hi all - I'm sharing this with the DOL community - raises some questions for those who swab test for prcd/PRA. A similar letter has been sent to the National Associaltion of Testing Authorities, Aust (NATA), Australian Dept of Primary Industries (DPI), DogsVic and Optigen USA. Vanessa Brotto is the author and I am the 'breeder' of the tested dog.

22/2/2013

RE: GENETIC TECHNOLOGIES (GTG)

Dear Sir or Madam

I would like to bring to ………………. attention the issues I havehad with Animal Network Genetic Technologies (GTG) with regard to some prcd/PRAresults.

Under the Code of practice forthe responsible breeding of animals with heritable defects that cause disease" every breeder that mates a Carrier Dog to a Clear Dog must " Progenyto be used for breeding purposes must be tested for the heritable defect"

As I am a breeder of a type of dog that fallsunder this legislation, I have endeavoured to follow the law and test mypuppies/breeding stock for prcd/PRA.

Dog breeders under Victorian Legislation andAustralia wide use GTG to test their dogs for genetic diseases and then makebreeding decisions based on these test results. I have personally beenusing GTG labs since 2005 for prcd/PRA disease testing. GTG is the only labthat we are able to use for such testing.

This week, I received a certified report statingthat one of my dogs is Affected with prcd/PRA.

I queried this result as both the sire and thedam had been tested by this lab, the sire coming back certified CLEAR and thedam coming back certified CARRIER. So based on a simple recessive mode of inheritancefor PRA, this dog cannot be an affected. I contacted Genetic Technologies viaemail alerting them to this error, as did the dog's breeder. GTG said theywould conduct further tests to see what had gone wrong on both samples I hadsubmitted.

On the 21/2/2013 I phoned GTG and spoke to………………., asking if there had been any results. She informed me that they hadfinished their investigation but was not ready to let me know the results. Shetold me I would be contacted the next day with the results.

On the 22/2/2013 I was contacted by …………………… byphone at 9.30am where she informed me that the first swab tested had come backas "contaminated" therefore giving a false positive. She inferred that"contamination" meant that there were two sources of DNA in that particularswab. The second swab showed only one dog's DNA and had returned a result ofCarrier.

When I asked why a certified result had beengiven on a false positive, ………….said the only way to tell if a sample wascontaminated was to run a DNA profile, which they do not do before diseasetesting. When I asked for assurances that all my previously tested dogs alongwith my current litter samples were the correct results, her answer was simplythat they run hundreds of tests. I informed …………… that I was not happy withthat answer as that does not assure me that previously tested dogs results areactually correct. I then asked for the results of the further testing which hadbeen done during their investigation to be emailed to me. …………. said she couldn'tsend them to me, although I was welcome to come into GTG to view them. Iresponded that as I had paid money for these tests that I required the resultsto be emailed to me. I was refused.

On 22/2/2013, I made a secondphone call asking for a copy of the test results and this time I was informedthat they would not be released to me until the following Tuesday. On the sameday, 22/2/2013 the dog's breeder also contacted them requesting the results,but they refused. A deadline was given to GTG for getting the results by 5pm orwe would be taking this matter further. Just on the close of business on22/2/2013, I received an email from GTG.

In this email I was informed that the swab which tested asPRA Affected could be for two reasons. Either, the swab was contaminated attime of collection OR the testing procedure was incorrect. As indicated above,the DNA profiling conducted on this swab returned a result which indicated thepresence of more than one source of DNA.

The second swab collected and then subsequently tested cameback as PRA Carrier with only one dog's genetic markers present in the DNAprofiling.

Below is Genetic Technologies' actual wording from theattached email:

"Theresults revealed for DOG40510 that the DNA profiling for swab one showedevidence of contamination in the profiling test thus giving a false affected result.However swab two showed a single source profile that was a carrier.

NOTE:

If the swabwas contaminated with another dogs DNA on collection; then the profile of thetwo dogs would be different.

If the swabwas not contaminated with another dogs DNA on collection; then the testprocedure for PRCD would be in error."

In this email I received the DNA profile for swab2 only. I emailed requesting a copy of the other results (especially the DNAprofile of the "contaminated" swab) but nothing came through. I followed upwith a phone call and was told they could not supply them.

The questions the above situation raises are:

- An Affected certificate was issued on the basis of asuspected "contaminated" swab.

- GTG have stated that they do not run DNA profiles on theswabs before disease testing, so there appears to be nothing in place to checkif the source has been contaminated or not before they issue a certificate withan official result.

- How many certified results have been based on "contaminated"swabs?

- How can "contamination" return a false Affected result?(Please note that there were no prcdPRA Affected dogs in the vicinity of thedog that was tested. In fact, there are no Affected dogs of this breed in thewhole of Australia and this particular Direct DNA Mutation test is specific forthis breed).

- How can GTG then guarantee that all certified results whichhave been issued by them are correct?

- Under the legislation as breeders we must supply a copy ofthe prcd/PRA test results to our purchasers to fulfil the law. The above raisesquestions as to the accuracy of the results we are obtaining from GTG and thenpassing onto our purchasers.

I have asked the above questions of GTG and as ofwriting this letter have not received adequate answers to them.

When GTG first conducted testing for diseasesthey used to run DNA samplings of each swab first and supplied the DNA resultsalong with the disease test results. This was stopped some years ago and if youwanted DNA profiles you needed to pay extra for this test. .

I would appreciate any assistance that …………… maybe able to offer in investigating GTG to see if they are following correcttesting procedures and therefore giving out correct certified test results onour canines. Only with this assurance, can I and my fellow breeders makeappropriate breeding decisions and abide by the Victorian Legislation on dogbreeding.

Yours Sincerely

Vanessa Brotto

[WreckitWhippet]

not good enough is it

[Christina]

Now we can all start to worry.

I don't understand how the swab can be contaminated at collection ?

The swab is taken from the dog & put into a sealed bag. How can another dogs DNA be in there or on it ?

[*Lolapalooza*]

A friend had DNA testing for DM done in NZ, dam was carrier, sire was clear.....puppy came back at risk.........not possible!

When the lab was questioned they questioned the parentage of the litter?! Breeder was 100% sure of parentage as done by TCI so now she has to pay for parentage as well to prove the lab was wrong (or the TCI catheter was dirty :laugh: )

Gaaaaaaaaaah!

(Not GTG)

Edited February 24, 2013 by *Lolapalooza*

[Kalevi]

I think it raises significant questions and these have been posed to GTG and some regulatory bodies. So the questions going round my head are:

- If its so easy to get a containmated sample then does it make this test ineffective?

- What controls are in place to pick up on containmated swabs?

- Should DNA profiles be run along with PRA to ensure the swab is not contanimated?

- Given we have false affected results, can false clear results occur (which obviously opens a huge can-o-worms)...

We'll keep you updated on whatever we hear.

[Bisart Dobes]

After my last dealings with GTG !!!!!!!!!!!!! I WILL NEVER USE THIS COMPANY AGAIN DESPITE THE FACT THAT I HAVE TO HAVE ALL OF MY DOGS RETESTED WITH ANOTHER COMPANY. AND I WILL ALWAYS RECOMMEND AGAINST THEM - ALWAYS.

[Christina]

After my last dealings with GTG !!!!!!!!!!!!! I WILL NEVER USE THIS COMPANY AGAIN DESPITE THE FACT THAT I HAVE TO HAVE ALL OF MY DOGS RETESTED WITH ANOTHER COMPANY. AND I WILL ALWAYS RECOMMEND AGAINST THEM - ALWAYS.

I am not sure there is another company that can be used for testing prcd/PRA ?

There was but seems after Optigen won the lawsuit to prevent others using the test for this particular thing we may be limited.

[*Lolapalooza*]

Oh thats bad Bisart Can you say what happened?

[alpha bet]

We had one result come back for a dog as Affected for HC - this should be impossible as the bitch was HC Clear and the sire has advertised HC Clear however I had not seen any paperwork to prove this I had just taken their word he had been tested. However we knew the bitch was tested Clear therefore even if the owner of the sire had lied, the worst case scenario was that this dog could be a Carrier.

We queried the result for this dog with the company... they double checked and discovered they had made a clerical error... dog was actually HC Clear.

I now ask for paperwork on any outside dogs as well as any of my dogs I choose to breed are all tested - even those that are Clear by Parentage - it is one way of double checking the results for the parents as well.

Years ago when I was breeding GSD they had the Breed Survey Scheme, therefore all hip scores were published and therefore public knowledge, Wish there was a database of the testing results that could be accessed by everyone so that we could all share the results of these tests. Then things would feel more official and reliable. If there is would someone let me know!

[poocow]

We had one result come back for a dog as Affected for HC - this should be impossible as the bitch was HC Clear and the sire has advertised HC Clear however I had not seen any paperwork to prove this I had just taken their word he had been tested. However we knew the bitch was tested Clear therefore even if the owner of the sire had lied, the worst case scenario was that this dog could be a Carrier.

HC is a dominant gene so therefore there can never be carriers. Dogs are either Clear, Affected (1 copy of the gene) or Affected (2 copies of the gene).

Glad you got your results rectified.

[espinay2]

Wish there was a database of the testing results that could be accessed by everyone so that we could all share the results of these tests. Then things would feel more official and reliable. If there is would someone let me know!

There is - OFA and CHIC. Not in Australia, but we can use it.

My dogs have in fact just been used as a 'test case' for the entry of Australian health certifications.

They decided to do this as there has been growing interest from Australia in using their database.

All my dogs results are now listed on the database for people to view, and they are also CHIC certified.

After a bad experience with an Australian DNA testing company, I now also do all my DNA tests for DM through OFA as well.

ETA. you can see what the entry looks like for one of my dogs here: http://www.offa.org/display.html?appnum=1466783#animal

Note there are still a few glitches in how the data is displayed to be ironed out for some of the results, but they are all there now.

Edited February 25, 2013 by espinay2

[sandgrubber]

I once bred a bbEe bitch to a dog who was had been genetically tested for color and came out as BbEe. In a litter of 10 there were no pups that were bbEe or bbee. I calculated the odds of this at 1:1000 and contacted a different company, who agreed to do an independent test. When retested, the dog came out as BBEe. I don't remember what companies they were. Point is, sometimes genetic tests give wrong results. No one seems to be monitoring them, so lapses in quality control are possible. Reporting to OFA and CHIC are a good idea and do provide some protection. But it could cause a lot of problems if a popular sire got reported as CLEAR for a recessive condition when he was, in fact, a carrier. We don't know how often this has happened.

[*Lolapalooza*]

Wish there was a database of the testing results that could be accessed by everyone so that we could all share the results of these tests. Then things would feel more official and reliable. If there is would someone let me know!

There is - OFA and CHIC. Not in Australia, but we can use it.

My dogs have in fact just been used as a 'test case' for the entry of Australian health certifications.

They decided to do this as there has been growing interest from Australia in using their database.

All my dogs results are now listed on the database for people to view, and they are also CHIC certified.

After a bad experience with an Australian DNA testing company, I now also do all my DNA tests for DM through OFA as well.

ETA. you can see what the entry looks like for one of my dogs here: http://www.offa.org/display.html?appnum=1466783#animal

Note there are still a few glitches in how the data is displayed to be ironed out for some of the results, but they are all there now.

Espinay, How do we obtain the test swabs? Email OFFA?

Do you need a vet to do the swabs to confirm the identity of the dog?

[espinay2]

If you go to the web page it explains. For the tests they do you 'purchase' them for the dog and they send out the kit. You do the collection and send it back. All generally very easy quick and simple. ATM OFA doesn't require a vet to collect (for the DM one I do anyway and it is not a 'required' test in my breed) but in discussing it with them they have said that you can get the vet to collect and note it on the form. To date I haven't done that. I may look at that more in future given that seems to be the way requirements are going in Australia. Given the major hassle I had before with an Australian DNA testing company though (and what I am reading here too), frankly I trust OFA much more at present to get it right and that is the important thing for me.They certianly have been excellent to deal with to date.

Edited March 6, 2013 by espinay2

[Diva]

If you go to the web page it explains. For the tests they do you 'purchase' them for the dog and they send out the kit. You do the collection and send it back. All generally very easy quick and simple. ATM OFA doesn't require a vet to collect (for the DM one I do anyway) but in discussing it with them they have said that you can get the vet to collect and note it on the form. To date I haven't done that. I may look at that more in future given that seems to be the way requirements are going in Australia. Given the major hassle i had before with an aussie company though frankly I trust ofa much more to get it right and that is the important thing for me.

Yep, found OFA easy to deal with for the DM test.

Edited March 6, 2013 by Diva

[*Lolapalooza*]

Ok thanks thats great, I had 2 of my dogs DM done before the left USA (with OFA) rest were done here. I think it will try OFA for myself for the next ones.

[ellz]

I'm going to have to make some enquiries with ASAP on Monday because I have received some DNA results from them for colour which simply don't compute. According to them, my brindle dog is dominant black (Kk) so apparently his stripes are a figment of our imagination.

[BittyMooPeeb]

We've had experiences with GTG too that make me think their processes and QA/QC are poor. The huge number of clerical errors alone is cause for concern, plus we have had incorrect parentage results from them (with the same excuse given - a contaminated swab), and results attributed to the wrong dog.

I thought that, as we provide two swabs, both were tested. However this does not seem to be the case. It would seem an obvious process to alert to a contaminated swab.

It also concerns me that when I ring GTG to ask about (say) the progress of a profile or test, no-one knows! There doesn't seem to be any centralised recording or management :-(.