DNA eye status on pedigree?

[Belleview]

Just wondering-

 

Our ABCA pedigrees can note dogs whose hips have been "Veterinary Radiogist Approved." Has there been any discussion on an addition to the pedigree noting dogs who have been DNA tested clear for CEA...take the guess work out of identifying those who are clear by parentage?

 

Lori Cunningham

Milton, PA

[Mark Billadeau]

Yes, this has been discussed many times by the H&G committee. The issue is the limited space on the pedigrees for notations. While there may be room now for the current DNA tests, we anticipate the development of many more DNA tests and requests for adding the results of these tests to the pedigrees. We either do not start adding the results of DNA tests (setting a precedent) or need to develop clear cut criteria for determining if a new DNA test warrants notation on the pedigrees.

 

Lori, you're question should prod us to move forward with this discussion and come up with a recommendation.

 

Mark

[juliepoudrier]

How about a searchable database, maybe just by pedigree number to keep it simple? Then it could be expanded to include new tests as they come along. I know it could end up being a huge database, but it could be useful. And maybe owners could choose to have extra information (e.g., seizures, OCD, etc.) added on request. That option might not be used a whole lot, but some folks would, and it would allow others who are thinking of breeding to know what has been encountered in some crosses, even if there aren't any prophylactic genetic tests for the issue of concern.....

 

J.

[Pearse]

How about a searchable database, maybe just by pedigree number to keep it simple? Then it could be expanded to include new tests as they come along. I know it could end up being a huge database, but it could be useful.

 

 

Well it wouldn't make the database that much bigger for a start. Each test would be one field, and pretty much one digit (0 for +/+, 1 for +/- and 2 for -/-). The question is more as Mark frames it; whether or not a test is of sufficient value to warrant inclusion and how does one make that determination.

 

As for making the database searchable, there are several issues there. Some are technical and some are political/financial.

 

From a technical perspective, whether or not it's possible depends upon what the database is built on. If it's one of the more common database management systems, then it may not be that difficult to make it searchable online. If it's a completely customized system, it may not be that easy.

 

Second, it may not be advisable. If you are going to expose the database to queries from the web, for example, you need to be absolutely certain that the data are secured so that the integrity of the database is safeguarded. That is not trivial, but it's done every day so it's not impossible.

 

Then there are some "political"/financial concerns. Chief among those is whether the registry data ought to be available to any ABCA member or whether there are privacy issues. Does the registry have the right to share data with any member who requests it for any purpose, either for free, or on a fee-for-service basis?

 

Thirdly, how would doing something like that affect revenue to the registry? It could potentially save money (both for the registry and members) if down the road, online data entry and retrieval became available since a large part of the expense in running the registry is data entry and data management. Online data entry could save some of that money although the data would still need to be checked for accuracy and completeness. The cost for a replacement pedigree now is, I believe , only $5 so charging the same for one generated online would be revenue neutral, and charging a similar fee for online database queries could possible raise revenue and discourage idle curiosity.

 

I should add that these represent my personal opinions on the matter and do not represent the position of the ABCA, nor should they be taken as any indication that these matters are currently under consideration.

 

Pearse

[Kelliwic Border Collies]

How about a searchable database, maybe just by pedigree number to keep it simple? Then it could be expanded to include new tests as they come along.

 

I would be in favor of something like this. I don't know how to address Pearse's concerns, but if the complexities could be worked out, I definitely believe having the information available would be a good thing. The drawbacks can be limited usefulness if owners choose not to participate, and by inconsistency in data entry style (making it hard to find results that might actually exist). I do searches on the OFA database regularly but sometimes can't find what I'm looking for and I'm not always sure if it's because the tests I'm looking for haven't been done or because my search criteria isn't exactly the same as what was entered.

[Pearse]

. I do searches on the OFA database regularly but sometimes can't find what I'm looking for and I'm not always sure if it's because the tests I'm looking for haven't been done or because my search criteria isn't exactly the same as what was entered.

 

 

Why? It's a serious question. Why do you search the OFA database "all the time". Is it for research? Do you breed that much? Or, is it just curiosity?

[Kelliwic Border Collies]

Ok Pearse, "all the time" is a slight exaggeration. Several times a month is probably more accurate. I search it both for research and curiosity. Is this acceptable to you? LOL

 

ETA, I'm being a bit sarcastic but hope you're taking it in the humorous light in which it was intended. To expand a bit on what I use it for...I simply enjoy the research and the bits of knowledge or information the results of my searches (OFA or otherwise) provide me. I presently only own two dogs and eventually I'll find another dog or pup that seems a "right fit" for me. Some of the info gathered will play a part in decision-making for me.

[Mark Billadeau]

Currently there are a handful of health related DNA tests available for Border Collies.

 

CEA/CH

CL

TNS

MDR1

 

I have been developing in my mind a possible policy statement on what tests would warrant a notation on the pedigrees. I am interested in hearing from others their ideas on a clear cut way to determine what tests warrant a notation. Remember there is very limited space on the pedigrees for notations and there will be more tests coming in the future. Ideally, the criteria would not be subjective.

[Journey]

Since hips are already included I would say the CEA test should be as well since you have to have the CERF to run in the finals. The others don't really apply to working bred dogs though do they?

[Mark Billadeau]

The others don't really apply to working bred dogs though do they?

This is a subjective statement; how about making it objective.

How should we handle future tests (early onset deafness, epilepsy, etc)?

 

Nothing about requiring eye exams for the finals involves CEA testing; so why does that mean it should automatically be included on the pedigrees? CEA normal dogs and their progeny still need eye exams.

[Journey]

Don't you or wouldn't you see an affected CEA on a CERF exam? One that hasn't had any DNA testing done?

 

As to handling the others and ones to come in the future, what about notations on the papers "if" they are affected with Epi, deafness, etc.. If a pup is found to be deaf, then the parents can be noted as producing a deaf pup. You are not going to get everyone to test for everything but you can hope that when someone has an affected pup they will report it, then the info is placed on the sire and dams.

 

I don't know, just thinking about it outloud.

[Mark Billadeau]

The notations on the pedigrees are for clear/normal dogs; not for affected dogs or carriers. For example, the hip notation is for dogs that have hips "within normal limits".

CEA Normal, CEA carrier, and some CEA affected ("go normal") would look the same during an eye exam.

[Liz P]

An idea; include a seperate sheet with test results of the dogs on the pedigree (for an extra fee if that was needed to cover the cost). The testing information could be in chart format with the major diseases listed across the top and results in the boxes next to each name.

 

I have the confess that I would also like to know the COIs of dogs and am envious of ISDS pedigrees in that regard. Even better would be the ability to get a calculated COI on potential crosses.

[Debbie Meier]

I know I won't be liked for typing this, but.. I don't think test results should be placed on pedigrees unless the particular defect is considered a threat to the entire border collie breed as a working dog, not just individuals. If a defect is threatening a large percentage of the working health of the community then yes, it should be denoted, isolated and managed, this may be important if a particular line carries a mutation, but the current tests arn't going to help us, we won't know about the problem until it has appeared and tests come after the fact, you can't test for something you are unaware of. IMO, based on the information I have seen, none of the current defects are a threat to the population as a whole, though a person that has had a dog effected may feel as if it is.

 

Placing test results on the pedigrees where breeders who don't know what they are selecting for working wise, will just give them something to select for, this could be a bigger threat to the working health of the breed then the defects that are of concern.

 

Also, I know some feel that testing is the end all be all, that the results are set in stone and absolute, but I'm not convinced that the science is as perfect as we want to believe it to be. I'm not saying don't use the testing to help in your breeding selection, but also don't force others to do it by isolating those that do not choose to follow suit, inadvertently it will happen, buyers and breeders will select away from dogs that do not have test records on file as opposed to making decisions based on working ability. We need equal representation and diversity not only in our dogs, but in those that use the dogs, select the dogs and breed the dogs. What happens if in 25 years we discover that we were wrong? Atleast by having breeders that continue to breed using methods of selection that have created the dogs we currently have there is a chance that there may be a fall back population, though it may be small.

 

I'm not against results being published on papers, I am against all results from available tests, limit the results to those issues that are considered a threat to the population as a whole, not just individuals. The biggest reason I am against it is that it will encourage the practice of selection based on the papers over selection based on working ability.

 

I have already heard breeders say "I would rather produce a healthy dog that does not work then one that works and has a health issue". This threat is not immediate, but how many years will it take to get there? We already don't have enough good working dog breeders and too many that are breeding just to produce border collies, don't give the later more tools or offer the opportunity for those that should not be breeding to breed a dog that is politically correct by having all the proper test credentials.

 

As far as COI, if your breeding decision is hinged on the COI then invest the time to figure the COI out.

 

How many people want test results on the papers so that they can market and flaunt (weapon) vs. those that are going to use it as a breeding tool?

 

 

Deb

[Mark Billadeau]

I know I won't be liked for typing this, but.. I don't think test results should be placed on pedigrees unless the particular defect is considered a threat to the entire border collie breed as a working dog, not just individuals. If a defect is threatening a large percentage of the working health of the community then yes, it should be denoted, isolated and managed, this may be important if a particular line carries a mutation, but the current tests arn't going to help us, we won't know about the problem until it has appeared and tests come after the fact, you can't test for something you are unaware of. IMO, based on the information I have seen, none of the current defects are a threat to the population as a whole, though a person that has had a dog effected may feel as if it is.

 

Deb

I am in total agreement that is why one of my thoughts is to set a criteria like x% of the breed is affected as determined by the currently accepted clinical diagnostic test.

[Debbie Meier]

I am in total agreement that is why one of my thoughts is to set a standard like x% of the breed is affected as determined by the currently accepted clinical diagnostic test.

 

Contact AQHA (American Quarter Horse Assoc.), they already have a president in regards to HYPP, HERDA and other defects. I'm not up to date on their procedures anymore, but I was just reading an article from the Association, they have published the percentage of horses based on discipline that are affected by different genetic defects. If I am understanding the article correctly, HYPP is considered the primary threat affecting 50% of the halter horses, lower percentage in the other disciplines. The other issues are not as widespread and appear to be contained by having isolated the line that it manifests in. With HYPP they have guideline that were implimented over time, beginning with isolating the line that was exhibiting the defect, then testing breeding pairs from that line and indicating the test results on the pedigree, this then would allow foals born to have a designation placed on their papers, example would be (-) if the parents were both (-) and (-/+) if they were a possible carrier or afflicted. When we purchase Impressive bred horses we buy ones with a clear indication on their papers, it has just turned into a trend within the quarter horse community, but you still have those that avoid horses with Impressive in their breeding like the plague, regardless as to how good the horse is or that it comes with the guaranty of being (-), some due to not caring for the line based on other traits of the line and others that just fear it due to HYPP.

 

Also, they do not even appear to be concerned with structural health such as eyes, ocds, stifle problems, hoof problem, etc. In reality the breeders and buyers will regulate those issues, it will effect the ability of the horse, the breeders that are breeding for function are going to adjust to breed away from the affliction, and personally I think that is ideal.

 

Deb

 

ETA: How can you say that x% of the population is affected when a good representation has not been sampled? If your sampling is based on National Finals dogs that is a small population with concentrated blood compared to the entire population. Same is true if you limit the sampling to dogs that trial, or dogs that are owned by people that are on the internet. Granted the dogs that trial could end up being used as the flavor of the day, but that flavor is not apt to effect the entire population. It's not like it was overseas where as one top winning stud dog or pups of his would service a large percentage of the population, don't we have a way larger gene pool that is maintaining a strong diversity at this time?

[Mark Billadeau]

ETA: How can you say that x% of the population is affected when a good representation has not been sampled? If your sampling is based on National Finals dogs that is a small population with concentrated blood compared to the entire population. Same is true if you limit the sampling to dogs that trial, or dogs that are owned by people that are on the internet. Granted the dogs that trial could end up being used as the flavor of the day, but that flavor is not apt to effect the entire population.

I never said the precentage would be determined by only testing dogs at the national finals.

[Mark Billadeau]

.... Granted the dogs that trial could end up being used as the flavor of the day, but that flavor is not apt to effect the entire population.......

You may be correct in saying that the gene pool represented by the trialing dogs has a minor effect on the entire population of Border Collies (due to puppy mills, BYBs, sport breeders, etc); however, do you really believe that the gene pool represented by trialing dogs has little effect on the "working" gene pool which is the most important gene pool to the ABCA?

 

 

 

 

The ABCA exists to register, maintain and verify the pedigrees of Border Collies, to promote and foster in North America the breeding, training and distribution of reliable working Border Collies, and to promote stockdog trials and exhibitions.

[Debbie Meier]

I never said the precentage would be determined by only testing dogs at the national finals.

 

I understand that, I guess I should have asked first...Where are your samples coming from? Is it a true representative of the entire population?

 

The only places I've seen sampling is at finals, trials and here. If you are not part of those communities your dogs may not not be included in the population, I have to wonder if there is a large population that would not be included making the percentage of affected dogs actually appear higher then it actually is.

 

 

Deb

[Mark Billadeau]

The affected rate of CEA is about 2.5%; that rate was not determined by sampling dogs at the finals.

In fact, if only the finals dogs were used to determine the CEA affected rate; it would have appeared lower (not higher) than it really is.

 

I would propose that along with the request to add a DNA test notation there be an estimate (based upon confirmable data) of the affected rate.

[Debbie Meier]

You may be correct in saying that the gene pool represented by the trialing dogs has a minor effect on the entire population of Border Collies (due to puppy mills, BYBs, sport breeders, etc); however, do you really believe that the gene pool represented by trialing dogs has little effect on the "working" gene pool which is the most important gene pool to the ABCA?

 

I think that the entire working gene pool needs to be considered and identified by numbers, if you were to make a ruling based on the trial population you are effecting the entire population. I think there is merit in defining what percentage of the working population are trial dogs or dogs that are influenced by dogs that have participated in the National Finals. Yes, there is some cross over, but there is also a percentage of exclusion and a percentage whereas over time the trial dog influence has been greatly reduced by outcrossing.

 

Deb

[Mark Billadeau]

It's easy to define the trialing part of the working gene pool but how would you define the "working but not trialing" part of the working gene pool?

 

Do these dogs need to drive? Do they only need to gather? Do they only need to gather on their home field?

 

How many "working but not trialing" dogs do not come from lines that have trialing dogs?

[Mark Billadeau]

Okay so back to my question. What criteria should DNA tests meet in order to be considered for notation on the pedigrees?

 

Based upon Deb's arguments there should be no notations.

[Denise Wall]

Debbie,

 

It's very difficult to get accurate figures for genetic diseases however in certain instances there are pretty reliable data. One example would be CEA, which is what the OP was asking about. Taking numbers from CERF data over many years, as well as results from dogs examined at the sheepdog finals over many years, a consistent affected rate of around 2.5% was seen. The dogs examined at the finals are not just trial dogs, although they would likely be owned by people who would be at the finals. Any ABCA registered dog is examined for free. Around 200-300 dogs have been examined each year since 1996. The total numbers are now well into the thousands. CERF data would have come from several "disciplines" of border collies. With CERF data, the information is (or was back at the time before we got the CEA DNA test) sent in to CERF's anonymous database by the examining vet regardless of whether the individual submits the exam results to CERF. In both of these situations, the data obtained are unbiased by things like people deciding not to send the information into a database like OFA.

 

The main CEA gene is a single recessive gene. The DNA test is reliable. Dealing with the problem is about as straightforward as it gets.

 

People on the ABCA Health and Genetics Committee try to weigh every angle with each decision in each disease.

[Debbie Meier]

I would propose that along with the request to add a DNA test notation there be an estimate (based upon confirmable data) of the affected rate.

 

What do you foresee breeders and buyers doing with that information?

 

What will be the future of breeders over time that elect to not dna test compared to those that do?

 

What do you anticipate will be the working abilities of the dogs that were a result of selection based on that information to be? Can that be checked by researching the effect of hip testing being indicated on the pedigrees comparing breeders that have elected to continue to have their dogs hips rated, those that did but ceased and those that never participated?

 

Deb

 

ETA: Sorry Mark, we cross posted, I did not say none. I said to check with AQHA who already is active in the practice to see what they consider a high enough percentage. Though they do a dna parentage verification of all breeding stock so their sampling would be pretty accurate.