Tag Archives: health testing

Guide to Genetics Testing

A Clinical Genetics Approach to Understanding
Genetic, Multiplex and Health Testing

Jerold S. Bell, DVM

     The increasing availability of genetic screening tests, DNA tests,
and now multiplex test panels also requires an understanding
of what the tests tell you.       Join us in this webinar and learn:

– The practical applications for using the results of these tests
to improve the health of dogs

– The dangers for the inappropriate use of genetic tests to dog health
– The roles of the breeder, dog owner and veterinarian
in utilizing genetic tests

Running time: 75 mins

Free registration compliments of

Veterinary Professionals can earn CE credit (Approved by AAVSB RACE,
NY State, NJVMA) by logging into VetVine (it’s free to join)
and registering to view the video on this page

AKCCHF – Clinical Genetics & Health Testing

Click the link above to access this video seminar.

 

Death by a Thousand Health Tests

Food for thought is always a good thing, at least in my world, it keeps my mind open to new ideas. As I’ve aged I’ve found it’s ever more important not to get stuck in my ways and thinking about what other people have to say on a topic keeps me out of ruts.  So when I read the article I’m sharing with you today about health testing, I found myself thinking. Now, a word of warning, some of my close friends would tell you, “Sally’s thinking takes some rather weird detours now and again, so when she says “I was thinking” you might wanna run for cover!”

We all talk about being a responsible breeder, and of course, we consider a part of that responsibility to be health testing of the parents. Now mind you, I’m getting to that place where I’m almost old as dirt, so I’m one of those breeders who started in the game long before the majority of the health tests of today were available. While I’m all for health testing to gain knowledge of what is in the genes I’m about to mix together, I’m also one of those breeders who will tell you to use a good ole dose of common sense when breeding. While I’d never throw health testing to the side, I am also realizing that as the population of Gordon Setters declines, so follows our number of breeding options. This is a big conundrum we face folks, and it will take dedication, smart decisions and some good old common sense to preserve the best of our breed.

Sally Gift, AZ              Photograph by Susan Roy Nelson, WY

With that said, I don’t know as I agree with everything in this article, but I do know it will give you some food for thought so I’m sharing, for your reading and thinking pleasure.  If you’d like to share your thoughts after reading this feel free to use the comment section!

Breeder On The Edge

Death From a Thousand Health Tests by Amanda Kelly

AUTHOR:  A dedicated hobby breeder in a terminally rare breed, Amanda Kelly perpetually finds herself on the edge of everything from ecstasy to bankruptcy, quitting and insanity.

I had a really interesting conversation with a geneticist the other day that got me thinking: science is offering us more and more great ways to evaluate the health of our dogs…but when does enough turn into too much? When do we cross the threshold from helpful information to complete paralysis? Or outright bankruptcy? How do we avoid both?

Prioritization
The test we were discussing is quite a new one in my breed (Toy Manchester Terriers). It is for a condition called Xanthinuria that causes dogs to form a very rare form of kidney stone. There have only been three clinically affected dogs that I am aware of (full disclosure: we bred one). After encountering the issue, a fellow breeder did a little digging and discovered that a marker associated with the condition in humans worked for our breed as well. Kudos to her for being proactive and finding out more! The American and Canadian breed clubs helped proof the test and voila, it is now available commercially at quite a reasonable cost.

When I looked at dogs in my own breeding program that came up as carriers however, I was surprised as I would have expected more of our puppies to have or be forming stones than was the case.  So, what does that say about the disease? Do all affected puppies form stones? If not, what is the rate?  I found the answers to those Qs simultaneously helpful and troubling.

Apparently, current thinking is that approximately 50% of males with two copies of the mutation form stones or have associated kidney issues, while very few females with the same status have a problem (likely because they do a better job of emptying their bladders). Now, these are just rough estimates because the disease as a whole is rare and hasn’t been extensively studied, but it does raise an important question: what are we as breeders to do with this information and associated results of the genetic test?

The Jigsaw
The simple fact is that the more tests we have, the more pieces of info we have to try and reconcile when planning a breeding. At present, Toy Manchester breeders as a group are variously clearing things like hips, patellas, eyes, thyroid, and hearts plus DNA testing for von Willebrand’s Disease, and, now, potentially xanthinuria. That’s 7 tests, some with questionable value based on anecdotal and surveillance evidence, if we’re being honest. We’re also actively working to identify a test for juvenile cardiomyopathy.

The end result of all of that testing is a ton of information, which is great from the perspective of evaluating the health of individual dogs but also creates a number of very real problems for breeders in areas like liability, reputation and cost.

In the past, these factors were certainly in play but their effects were somewhat muted. Breeders worked for years to learn about their breed and their lines so they could make informed decisions and minimize the risk of producing issues. Health tests initially concentrated on measuring phenotype as an indicator and we worked with what we had. The important thing was that we could confidently tell puppy buyers we had done everything possible to produce healthy, happy puppies and if a problem appeared we were solid in the knowledge we had used all available tools to their best advantage.

Enter the genetic test. In my breed, the first one was for von Willebrand’s Disease (a blood clotting disorder). For years this disease was monitored by assay testing that measured the actual amount of the specific type of clotting factor in the blood and projected genetic status based on corresponding ranges. It was a pain to do but everyone muddled through as it was one of the few standard health tests most breeders did in the 1980s and 90s. When the genetic marker was identified, some breeders lost their ever loving minds. Dozens of valuable dogs were promptly spayed and neutered while breeders across North America began making pronunciations about “never” breeding a carrier even to a clear.

There’s no question, needless damage was done to the gene pool — especially when you consider there had never been a documented case of a Manchester actually bleeding out because it was vWD affected (at least not one I am aware of). Eventually breeders learned how to work with the DNA results and things calmed down. Our new test allowed us to easily avoid producing “affected” puppies (i.e., a dog with two copies of the gene, not necessarily clinically affected) and, regardless of the actual effects of the condition itself, doing so quickly became “right” and “just”.  It was an approach we ourselves endorsed and followed because, after all, “responsible breeders” test.

And thus, the line in the sand was drawn. It’s a line we in the dog community drew ourselves and it’s one most of us dare not cross.

Unlimited Liability
The scientific advancements that brought us more genetic tests took place against an active backdrop that included the rise of animal rights, increasing anthropomorphization of pets, emergence of puppy lemon laws, and the advent of social media. Now, it may seem odd to bring those factors into a discussion of genetic testing, but they each play a very important role in describing the environment within which we are working. An environment that values reputation above all else and that pits breeding decisions against financial liability in a way many breeders don’t consider.

Any breeder with two licks of sense knows that when it comes to breeding dogs, the most important possession you have — more important than any ribbon you may ever win — is your reputation. Your reputation affects everything you do, from access to stud dogs and puppies to demand for same. In a subjective sport like ours, it can even affect your ability to succeed in the show ring.

Protecting, fostering and growing a reputation can become all-consuming. Let’s cut to the chase here: We’re operating in an environment that can make a competition out of anything — which is why sometimes reputation management, and by extension health testing, becomes as much about one upmanship and moral superiority as it is the well-being of the dogs in question. That probably explains why many of the tests done in my breed are done by rote…because they are available, not because we have objectively identified a need for them. Not because we have established that rates of thyroid problems or eye issues, for example, are any higher in our breed than in the general dog population. No, we do them because we can and because we feel (tell one another?) that we should. And why is that? It’s because we have established as fact within our community that good breeders test and bad breeders don’t. So, we all work extra hard to make sure our conduct is above reproach.

That core belief is just as strong outside of the dog community, where we have worked hard to battle animal rights messaging by establishing health testing as a key feature differentiating responsible breeders from backyard breeders. And it’s a great message — easy to understand and easy for the public to actively measure when they are talking to breeders. The trouble is, that message comes pre-loaded with expectations we can never live up to. Expectations that if you buy from a good breeder your dog will never ever have health issues. That health tested parents won’t produce problems. That responsible breeders can be God.

And therein lies the problem. The more health testing we do, the bigger the gap grows between public expectations and the reality of what we can deliver…and with it, our financial liability. Because hey, don’t forget, in addition to health testing, responsible breeders also guarantee their puppies. Whether through provision of a replacement puppy or return of purchase funds, those guarantees do carry financial risk and can’t be dismissed at the best of times and even less so as puppy lemon laws increasingly make puppy health a legal matter. So, tell me…how do you think small claims court would view a breeder that knowingly produces a problem? Or one that unknowingly produces one because they failed to use the tests available? It’s a perfect catch 22 in the making.

Risk Reduction
It’s a simple axiom that the more health testing available, the less we talk about what we’re trying to avoid producing and the more we talk about what we are willing to risk producing. There isn’t a perfect dog out there and every biological organism possesses deleterious genes for something, regardless of whether we can test for it or not.  The more tests available, the more complicated planning breedings becomes because we all naturally want to avoid the chances of producing any problem at all.  But is that a realistic goal?

What did I say we were up to in my breed – seven tests? Eight? Heck, even I lose track sometimes. And all of these tests in an era when the number of puppies being produced continues to drop at an alarming rate. Under 200 Toy and Standard Manchester Terriers “combined” were produced in North America last year, so I’m sure you can image how difficult it might be to match test results for potential breedings (particularly if we’re testing for everything under the sun). Or what the costs of doing those breedings might be as we look further and further afield, let alone the relative cost of doing the health screening to begin with in a breed with relatively small litter sizes and low purchase prices. The financials would rock your world and have you questioning my sanity, so we won’t go there other than to say red is a better quality in a new coat than a ledger (but I digress…).

I asked a few researchers and vets what they felt breeders should do with test results when there are many to consider.  The consistent response was that we need to prioritize — and that’s a completely reasonable thing for a scientist to say…and a very difficult thing for a devoted dog breeder to actually do.

Never mind the costs, appearance or liability — I genuinely don’t want to be responsible through conscious decision for producing a sick puppy. It is one thing to employ testing, tools and techniques to theoretically reduce disease and quite another to look at a plethora of results and say “This one I can live with.”

And what happens once the die is cast?  If we use Xanthinuria as an example, I could choose to breed two carriers together and test all of the puppies…but then what? Sure, knowing a puppy has two copies of the gene and is at higher risk of forming stones will be helpful to an owner who could keep the dog on a low purine diet and perhaps avoid issues altogether…but could I sell a puppy like that? For how much? Would anyone take it if I was giving it away? What level of financial responsibility do I hold if it does develop an issue two, five or 10 years down the road? What if there are multiple puppies with two copies of the gene in the litter?

And that, ladies and gentlemen, is the ethical dilemma of the future.  Perhaps we in smaller, rarer breeds are dealing with it sooner, but it is a dilemma I truly believe every breed and breeder will face at some point.  It has the potential to be absolutely paralyzing as we seek to do the right thing in a world where that is increasingly less black and white than it seemed a few short years ago.

I don’t know exactly how we can or should approach it — perhaps I’m hoping you’ll be able to tell me. I suspect that monitoring of actual breed health through health surveys and breeders sharing information on what they are seeing will be increasingly important if we wish to prioritize according to real information. And I do know that one of the things we absolutely must do is change how we discuss health testing. The way we talk about each other (oh Lordy, put a star next to that one!) and to each other as well as how we portray ourselves to the public. Just as important, we have to think about health tests and results holistically in the context of our breed and gene pool. In our rush to erase problems through testing, we are shown again and again that the devil we don’t know is often worse than the devil we can test for.

What To Do?
This article isn’t intended to form the cornerstone of a campaign against health testing. Far from it. I truly believe we need to use the tools available to us, particularly if they are able to help us avoid devastating issues facing our dogs and puppies. In fact, I and others in my breed have worked hard for more than a decade to see a genetic test developed for juvenile cardiomyopathy because it is a brutal, deadly disease and I want all of us to have a tool that will allow us to make informed choices and stop guessing at how to avoid it.

But I’m also a realist. Health management is a tough nut to crack even for trained geneticists let alone the average breeder doing their best to navigate an increasingly complex and technical landscape. Giving us the test results is the easy part, it seems — figuring out what to do with them is our next great challenge.

Do breeders need to change?

The face of breeding, as I’ve known it, has changed considerably since I first joined the ranks of Gordon Setter breeders in the 70’s. So much more information is readily available, resources for every question can be found at the touch of a keyboard, cross-country breeding is accomplished without shuffling the bitch off to the airport, and the availability of genetic tests is growing quickly to theoretically help us breed healthier dogs. But are we, the breeders, utilizing the results of those tests with a consciousness that will improve the overall health of the breed or could misguided perception and dwindling numbers cause the downfall of the breed instead?

Photo by Susan Roy Nelson
Photo by Susan Roy Nelson “Four Ladies in a Row”

I just read, and then reread an article written by a Corgi breeder Joanna Kimball – “How We Must Change as Breeders and Why – A Football Field of Dogs”  published in Best In Show Daily (point and click on the bold title to link to the article). Joanna raised some valid points regarding breeding that I believe bear discussion among Gordon Setter breeders. I hope you’ll join me here in considering some of those points and then by sharing your own perceptions, agreements or disagreements as they be.

First the assumption that as a breeder we should all agree that only a very few dogs should ever be bred – is this true? The breeder’s thought process as Joanna wrote is “I should be as picky as possible, first health-test everybody, prove that each dog is healthy, make sure that only the ones who are incredibly high-quality in terms of conformation and show success are allowed to breed. I should build the next ten thousand dogs from the most elite pool of this one.” That’s the conventional wisdom, the way “good breeders” do everything, right?

In fact, Joanna says we should bear in mind thatEVERY DOG WHO IS REMOVED FROM THE POPULATION HURTS THAT POPULATION.” To maintain health in any breed we need to understand the need for genetic variation, and to retain genetic variation we need to be breeding from many lines, to many sires not only the one or two most popular sires and so on.

crufts 2
Photo by Silvia Timmermann

I often want to go back to when I was younger, just starting out, and in this case I’m talking about the days when breeding wasn’t a four letter word and the propaganda of animal rights activists hadn’t put us all under their spell. The spell that makes breeders feel self-righteous for eliminating as many dogs as we can from the breeding pool because breeding is, after all, a very bad word. As the battery of DNA tests for genetic disorders continues to rise breeders are feeling satisfied as we believe we are gaining ground on health issues. But, should we also be considering that we might be losing ground on genetic diversity as we eliminate more and more dogs from the breeding pool with those tests?

Joanna states in another  point “SINCE EVERY DOG THAT IS REMOVED FROM THE POPULATION HURTS THE POPULATION, WE MUST REMOVE ONLY THOSE WHOSE PRESENCE WOULD HURT IT EVEN MORE.” To me this is like saying “Don’t throw the baby out with the bath water”. A common sense approach would include knowing what health condition could cause the death of our Gordon Setters, or what health condition would ruin the quality of life for our dogs, before making breeding choices based primarily on health testing, testing that if used incorrectly could eliminate other necessary qualities from the breed’s gene pool. Using testing to learn what, if any, health condition might be passed from one generation to the next is a wonderful tool, but it is not the only tool that a breeder should be using. Utilizing health testing to obtain the appropriate result in breeding requires very judicious application on the part of the breeder, who must also keep in mind the continued genetic diversity of the gene pool, as well as the overall soundness of the breed both physically and mentally.

Why, for example, would one choose to breed an OFA fair bitch to a dog because he had OFA good or excellent hips but also carried an unsound front, instead of breeding her to an OFA fair dog who is sound and beautifully moving both front and rear? In this case the breeder might get one or two additional puppies with better hip ratings (might) but the breeder will also be adding some puppies with those unsound fronts? Did the breeder really improve the breed or the gene pool with that breeding? Or, what about choosing to breed the Rcd4 carrier bitch to the Rcd4 clear dog whose parents both died of cancer at age 7, instead of breeding to the Rcd4 carrier dog whose parents died of old age at 13. We don’t have DNA tests for cancer available for Gordon Setters, but we do know that cancer causes the death of many Gordon Setters before their time, and we know the history of certain cancers can be prevalent in families. By theory, 25% of the puppies in the Rcd4 carrier to carrier litter could be affected, and at age 10 there may be one, perhaps even two of those affected dogs who might (there’s that word might again)  go blind from late onset PRA. Doesn’t the carrier to carrier litter – as a whole – have a better chance of living a healthy, happy life until old age takes them from us? Which choice does a breeder make and how does it affect the diversity of the gene pool? What if the breeder decides not to do either breeding because they don’t like the health choices? Can the diversity and size of the gene pool continue to be maintained if this were to be the constant decision?

Photo by Silvia Timmermann
Photo by Silvia Timmermann

So, why all this fuss about the gene pool, and gene pool diversity, and strength and size of the gene pool? A relatively simple example to help us understand is to look at the mixed breed population, and their reputation for being “healthier” than their purebred counterparts. Why is that? Genetic diversity is solidly at play. Odds are there are no common ancestors for generations in the pedigree of any mixed breed dog. A huge and diverse gene pool lies behind the mixed breed.

Before you decide I might be plumb crazy talking here about an issue with the size of gene pool let me ask you if you’ve read and absorbed, yes absorbed to the point where it makes perfect sense to you, the article at the Institute of Canine Biology by Carol Beachat PhD “Is your breed drifting?” (point and click on the bold printed title to link to this article)

As I look at the Gordon Setter in general, comparing them to other purebred dog breeds, I believe that Gordon Setters have relatively few genetic health issues that occur regularly. We are lucky in that respect. However, we cannot hope to improve the health characteristics we’d like to change, if our gene pool continues to shrink to the point where the majority of dogs are related, where there is not sufficient diversity to enact change. We need a diverse and a large population and we need responsible breeders who understand how to accomplish those health driven goals while maintaining the integrity of the breed.

by show ring
Photo by Bob Segal

As I look at dog show entries, where the rubber meets the road when it comes to proving the merit of our breeding stock, I find an ever decreasing number of Gordon Setter entries along with a decreasing number of new faces joining the ranks of breeders. Those who are showing today find ourselves scrambling to locate shows where there will be points, majors are difficult if not impossible to find unless sometimes you can bring your own entry – which accomplishes what exactly as far as improving the breed when you’ve finished a dog simply by winning over your own breeding? Specialties are struggling to build 5 point majors and many are no longer able to do so, despite offering two shows in one day. Our National Specialty entries have dropped from all time highs of between 450 to 550 dogs in ’93, ’94, and ’95 to approximately 220 entries for 2015, half the number that were participating 20 years ago.  Fewer entries, fewer breeders, fewer litters equals a smaller gene pool and thus loss of genetic diversity. To me this issue is two-fold; as breeders we need to appropriately and wisely utilize health testing without the elimination of too many dogs from the gene pool, and secondly we need to address the shrinking gene pool by understanding that we need to bring new breeder/exhibitors on to follow in our footsteps, to pick up the reins and drive on.

Many of you have been at this breeding/exhibiting thing for a while now. I’m curious how you feel about these concerns or better yet do you even believe there are such concerns? What would you change if you believe change is needed? How would you drive change? What do you think could be utilized to bring about improvement? Who do you believe is responsible for leading change in the breed? Can or should breeders accept responsibility for driving change?  How can breeders mentor others? So many questions and opinions, let’s start a discussion by sharing them, discussion is the first step. Your thoughts and comments are very welcome here, do remember to be respectful of others please.

For those of you who are Gordon owners but perhaps not involved in breeding and showing, what might entice you to change your focus, what would drive your interest in showing/breeding Gordon Setters? How would you want to learn? Who would you want to learn from? As above, your respectful thoughts and comments are welcome here.

To share your thoughts you may use the reply field at the very bottom of this article or click “Leave a Comment” at the very top of this article.

I’d like us to talk to each other people, as I believe change is needed and that is why I write this blog for you…to bring change through the sharing of information, common goals, and a love for our breed, the Gordon Setter.

Sally Gift, Mesa AZ

 References:

Part 2 – Do Breeders Need to Change?

CHIC for DUMMIES – What is it – why should I use it?

This ought to be good – and yes that’s sarcasm!  I’m going to try to take all the long words and even longer sentences that describe CHIC (Canine Health Information Center) and boil them down to a few bullet points that briefly explain who, what, when, where, and how this thing works. To get a full explanation and a complete understanding of CHIC and it’s importance to the Gordon Setter you must read their home page for which I’ve supplied a link below.

WHO

WHAT

  • CHIC collects information about health issues (Gordon Setters).
  • CHIC gives advice about the health screening tests we (owners) need to do to improve the chances of Gordon Setters being born without those health issues.
  • CHIC keeps records of the dogs that are screened and a database of all those test results.
  • CHIC issues a number  when all screening tests are done on a dog – this number does not mean all tests were negative or clear.

WHEN

  • We (owners) screen or test Gordon Setters for the health issues CHIC told us about before breeding.
  •  We send our dog’s test results and DNA samples to the CHIC database and storage bank.
  • We send CHIC updated health information on our dog when a new or different issue comes up.

HOW

  • CHIC sends researchers our dog’s DNA when it’s needed for new research projects.
  • CHIC keeps parent club (owners) up to date on current health trends in the breed based on the data that we sent them.
  • Researchers find new answers to breeding healthy Gordon Setters.

And they all lived happily ever after…the End!

CHIC - breed health improvement plan

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