Why do we do this?
by Martine Huslig on March 1, 2013 in Trixie's Paw Prints
Why? For the love of dogs. There is nothing more heartbreaking than when a dog that is loved and has been invested in dies. This is heart breaking when that dog has lived a long full life beyond the expectancy for his size and breed and when that dog has fulfilled many hopes and dreams planned for them. It is far more devastating when that loss is premature due to genetic disease. It is devastating when a much anticipated and planned for litter results in a puppy or puppies that die at a day or weeks old. It is worse still when serious problems occur at a year or two years of age, when that puppy is already a part of their owners' life, plans or family. Whether a beloved companion, part of the family, a beautiful show prospect full of potential, a working dog where hours upon hours have been spent in developing their inborn skills to serve an important purpose, or a performance dog trained to (or not quite to) perfection (as the case may be for many of us) it is tragic when this time, energy, love, hope, money, potential is dashed due to premature death or disability caused by genetic disease.
No one hopes to produce a puppy with mucopolysaccharidosis, Severe Combined Immune Deficiency (SCID), blindness, seizures or any of the over 100 genetic disorders that will be tested for at Paw Print Genetics™. When these problems occur, people often do not know how to react, why the problem occurred, what to do or who to blame.
Sadly, to some degree more or less, disease, including genetic disease, is an inevitable part of life. Genetic disease occurs in much wanted and planned for human children and genetic disease occurs in puppies and dogs. Each breed of dog is like a large extended family and because of this, most breeds are known specifically to be at risk for certain diseases. Unfortunately, we cannot anticipate the occurrence of all genetic disease, but by knowing our breed of dog, we can attempt to anticipate the possibility of certain disorders and do testing to eliminate the chance of our dogs or our breedings developing or producing these particular conditions, disorders or diseases. Just as you may know that your own family has an increased risk for cystic fibrosis, heart disease or certain types of early onset cancer--many dogs of many breeds have a higher risk for certain disorders (and actually a decreased risk for others).
Helping people test for the diseases that their dogs may be at risk for (and not the diseases they are not at risk for) and understand the implication of the results is the goal, mission and purpose of Paw Print Genetics. As the Definitive Resource for Canine Genetic Health©, Paw Print Genetics is committed to the genetic health and well-being of dogs using state-of-the -art equipment in a laboratory environment equivalent to that used in human diagnostics to insure test results are accurate.
As quoted from Paw Print Genetic founder and CEO, Lisa Shaffer, PhD: "Very few people consider the genetic health of their dogs, even though there are over 150 known genetic mutations in canines. Our Canine Genetic Health Certificate© is a major step towards improving the health and longevity of man's best friend."
So the reason we all breed, buy, train, exhibit, work and share our lives with our dogs is the same reason that we at Paw Print Genetics want to offer them accurate, comprehensive, state-of-the-art genetic testing---for the LOVE of dogs. Our best friends, our protectors, our service animals, our furry heads to cry on, our loves us when it seems like no one else does, our partners, our sniffers, chasers, herders, hunters and racers, our champions and our companions deserve nothing less.
by Martine Huslig on March 1, 2013 in Trixie's Paw Prints
Why? For the love of dogs. There is nothing more heartbreaking than when a dog that is loved and has been invested in dies. This is heart breaking when that dog has lived a long full life beyond the expectancy for his size and breed and when that dog has fulfilled many hopes and dreams planned for them. It is far more devastating when that loss is premature due to genetic disease. It is devastating when a much anticipated and planned for litter results in a puppy or puppies that die at a day or weeks old. It is worse still when serious problems occur at a year or two years of age, when that puppy is already a part of their owners' life, plans or family. Whether a beloved companion, part of the family, a beautiful show prospect full of potential, a working dog where hours upon hours have been spent in developing their inborn skills to serve an important purpose, or a performance dog trained to (or not quite to) perfection (as the case may be for many of us) it is tragic when this time, energy, love, hope, money, potential is dashed due to premature death or disability caused by genetic disease.
No one hopes to produce a puppy with mucopolysaccharidosis, Severe Combined Immune Deficiency (SCID), blindness, seizures or any of the over 100 genetic disorders that will be tested for at Paw Print Genetics™. When these problems occur, people often do not know how to react, why the problem occurred, what to do or who to blame.
Sadly, to some degree more or less, disease, including genetic disease, is an inevitable part of life. Genetic disease occurs in much wanted and planned for human children and genetic disease occurs in puppies and dogs. Each breed of dog is like a large extended family and because of this, most breeds are known specifically to be at risk for certain diseases. Unfortunately, we cannot anticipate the occurrence of all genetic disease, but by knowing our breed of dog, we can attempt to anticipate the possibility of certain disorders and do testing to eliminate the chance of our dogs or our breedings developing or producing these particular conditions, disorders or diseases. Just as you may know that your own family has an increased risk for cystic fibrosis, heart disease or certain types of early onset cancer--many dogs of many breeds have a higher risk for certain disorders (and actually a decreased risk for others).
Helping people test for the diseases that their dogs may be at risk for (and not the diseases they are not at risk for) and understand the implication of the results is the goal, mission and purpose of Paw Print Genetics. As the Definitive Resource for Canine Genetic Health©, Paw Print Genetics is committed to the genetic health and well-being of dogs using state-of-the -art equipment in a laboratory environment equivalent to that used in human diagnostics to insure test results are accurate.
As quoted from Paw Print Genetic founder and CEO, Lisa Shaffer, PhD: "Very few people consider the genetic health of their dogs, even though there are over 150 known genetic mutations in canines. Our Canine Genetic Health Certificate© is a major step towards improving the health and longevity of man's best friend."
So the reason we all breed, buy, train, exhibit, work and share our lives with our dogs is the same reason that we at Paw Print Genetics want to offer them accurate, comprehensive, state-of-the-art genetic testing---for the LOVE of dogs. Our best friends, our protectors, our service animals, our furry heads to cry on, our loves us when it seems like no one else does, our partners, our sniffers, chasers, herders, hunters and racers, our champions and our companions deserve nothing less.
Who To Test? - Canine Autosomal Recessive Genetic Diseases
by Casey Carl on Sept. 27, 2016 in The Veterinarian's CornerGenetics play an enormous role in the health of dogs walking through the doors of any veterinary hospital. However, the treatment of an animal with an inherited disease rather than proactive testing of the genetic mutations responsible for disease has been the traditional role of the veterinarian. With an increase in the availability of canine genetic disease testing and great improvements in the ease and convenience of ordering genetic testing through Paw Print Genetics, more and more dog breeders and their clients are having genetic testing performed prior to being symptomatic and learning the benefits of these powerful technologies. As a veterinarian, understanding the basics of genetic testing and how genetic test results can be used to prevent and diagnose disease will keep you current and prepared for your clients as these technologies inevitably become a more significant part of clinical veterinary practice.
One of the more challenging but important aspects of canine genetic testing is deciding what recommendations to make when a dog or one of its relatives are found to be at risk for (or affected with) a particular inherited disease. Appropriate testing recommendations for the relatives of affected dogs may be crucial for prevention of additional affected puppies and identification of other dogs that may also be at risk of disease.
A Diseased Littermate
A pet owner arrives at your veterinary hospital with their young dog, Lucky and tells you that they were recently informed by Lucky’s breeder that one of Lucky’s littermates, Hope, has been diagnosed with an autosomal recessive inherited disease. Lucky has been completely healthy, but the client is obviously concerned that he is at risk. The client would also like to hear what genetic testing recommendations you would have for Lucky and Hope’s breeder. You conduct some online research and discover that the genetic mutation causing the disease is known for the breed and genetic testing is available. In order to make the most appropriate genetic testing recommendations for Lucky’s relatives and to fully understand Lucky’s risk for this disease, one has to consider how the disease is inherited, its age of onset, and whether or not the disease displays variability in the way it is physically expressed.
Inheritance
Genetic diseases can be inherited in a variety of ways (here’s a quick refresher). However, diseases inherited in an autosomal recessive fashion, such as the one described here, are most common. If the disease Hope is diagnosed with is autosomal recessive, by definition, both of Lucky and Hope’s parents would have to carry at least a single copy of the mutation and Hope would have inherited one copy of the mutation from each of her parents. However, depending on the disease and its clinical presentation, it is possible that one or both of Lucky’s parents could also be at risk for, or affected with, the same disease without obvious clinical signs.
Variable Expressivity
Some recessive inherited diseases display a phenomenon known as variable expressivity in which individual dogs affected with the same disease display variability in disease severity, age of onset or in the clinical signs associated with the disease. One example of a common canine disease displaying variable expressivity is the clotting disorder known as von Willebrand disease I (vWDI). Though it is understood that dogs need to have inherited two copies of the associated mutation to display the characteristic problems with clotting, some dogs have such a mild phenotype that they can go undiagnosed for years.
Other recessive inherited diseases display significant variation in their age of onset. One example of such a canine disease is a form of progressive retinal atrophy known as cone-rod dystrophy 4 in which affected dogs have been described to develop disease between 1 and 15 years of age. Therefore, using our example, it would be entirely possible for Hope to develop clinical signs of this type of disease long before her parents or other littermates might.
Testing Recommendations
Recessive diseases are particularly troubling for breeders because dogs inheriting a single copy of a disease causing mutation (“carriers”) do not show signs of the disease themselves, but can produce puppies with the disease if bred to another carrier of the same mutation. Based upon statistics, the breeding of two carriers results in all possible genotypes in their puppies; approximately 25% “clear” (no copies of the mutation), 50% carriers (one copy of the mutation), and 25% at risk/affected (two copies of the mutation). Therefore, all littermates of a dog affected with a recessive disease should also be tested in order to understand each individual’s risk. When dealing with a recessive disease that displays variable expressivity, it would also be strongly indicated to test the parents of affected puppies in order to determine their risks related to the disease as they may not yet show obvious clinical signs. In addition to determining health risks of the parents, in order to safely breed either of the parents again, determining whether they have inherited one copy or two copies of the associated mutation through genetic testing is particularly important.
Dogs carrying one copy of a recessive mutation can be safely bred to dogs clear of the associated mutation without fear of producing affected dogs. However, it should be understood that approximately 50% of the puppies from this pairing will be carriers of the mutation. In general, it would not be recommended to breed dogs with two copies of the mutation. However, in some cases breeding these dogs to clear dogs (rather than removing them from the gene pool) should be considered to prevent loss of genetic diversity within the breed (e.g. small breed populations, high mutation frequency in the population, etc.). It should be understood that 100% of the puppies from this pairing will be carriers of the mutation.
Preventing Inherited Disease Before It Happens
When it comes to genetic diseases, Ben Franklin had it right when he stated, “An ounce of prevention is worth a pound of cure.” In a perfect world in which every dog breeder performed genetic disease testing on their breeding stock and made selective breeding decisions using these results, diseases caused by over 200 known canine genetic mutations could be completely prevented. Therefore, recommending extensive genetic testing to your dog breeding clients might be one of the most impactful recommendations you will make all week!
Importance of Canine Genetic Testing Anytime You Breed
by Martine Huslig on April 22, 2013 in Trixie's Paw PrintsMany people with a "cute little dog" who are going to breed it to their friend's "cute little dog" and sell the puppies will say, "I don't need to do genetic testing on the dogs/parents, I am not a breeder." If you plan a litter of puppies, you are a breeder.
Other people will say, "There is nothing wrong with the mother and father, they are perfectly healthy. I do not need to do genetic testing." Carriers of genetic problems are often invisible and without testing; you cannot predict whether your litter will be at risk for disease.
Some people will say, "I am only breeding pets and I have never seen any issues in the puppies I produce. I do not need to do genetic testing." Pets are just as likely to get the genetic diseases associated with their breed as show or working dogs and in any scenario, people are quite obviously emotionally attached to their pets. $53.33 billion was spent in the US last year on pets with $13.67 billion of that spent on veterinary care alone (source). Many genetic issues do not get diagnosed as a genetic issue or may develop years after you have bred that dog. Health and genetic screening on the parents is important to minimize the chance that these issues will occur. It is just as important for pet owners, as it is to serious show dog owners, to have the healthiest dog possible. Health issues are health issues and often heartbreaking and expensive. Every measure possible should be taken to avoid health issues especially when genetic testing is as cost effective and readily available as it is from Paw Print Genetics™.
Some people will say, "I am only buying a pet. I do not need to get my puppy from a responsible breeder." A responsible breeder being one who does, amongst other things, health screens and genetic testing on their breeding dogs as indicated based on the family history and breed in order to ensure that they produce the healthiest puppies possible. Most often these potential buyers are saying this because they want to spend less on the purchase price of the puppy and feel that puppies from a "responsible breeder" cost too much. They are often failing to look at the long-term financial and emotional costs potentially involved in having a dog with health issues. Many of these people will not think twice about spending thousands on veterinary care, training, and grooming, but will balk at the purchase price of the puppy.
At the same time, high purchase price does not necessarily mean that the puppy is well bred or that genetic testing has been done. It is important for potential puppy buyers to look at the pedigree (genetic family history) of their new puppy, ask questions, and see documentation on health and genetic testing that has been done on the parents such as the Canine Genetic Health Certificate© that is offered by Paw Print Genetics™. They should request documentation of hip, elbow, and other breed specific health clearances available from organizations like the Orthopedic Foundation for Animals and PennHip. Prospective buyers should ask questions, research, and learn about the issues for which their puppy may be at risk. In some cases (especially if considering breeding their dog in the future) they may wish to have genetic testing done before they purchase the puppy. Because Paw Print Genetics&trade can screen for multiple genetic diseases with simple cheek swabs, this testing is easily done on puppies at relatively early ages. If the puppy purchased is not intended for breeding, the buyer may still be concerned that their new dog may develop an inherited condition. If the buyer intends on breeding the new puppy, remember that all living creatures carry gene mutations and non-working genes that have a potential to be an issue if they are bred with another carrier. However, from a health perspective, carriers should not be symptomatic (should not have the disease) and will make great pets. They may not be suitable under certain breeding circumstances to produce litters but being identified as a carrier of a recessive disorder in no way affects their suitability as a pet.
If you are producing puppies, those puppies have a risk for genetic disease. If you are producing puppies, you are a breeder. "Not being a breeder" does not remove the potential risk of genetic disease that comes with reproduction. This risk is why every expectant couple says "We want a boy (or "we want a girl)...but we do not care as long as the baby is healthy". By breeding purebred dogs, dogs of known heritage or intentionally bred dogs, there is an opportunity to screen for diseases to reduce the risk for genetic health issues as much as possible. By purchasing a puppy of known heritage, you have the opportunity to determine if testing has been done for diseases for which they are at risk based on their breed(s). With genetic testing you can avoid the diseases for which you tested. Although it will not exclude all possible inherited and acquired diseases, this is your best available option to increase the odds of having a healthy dog. With disease like ichthyosis, hyperoxaluria, severe combined immune deficiency and the many others that have genetic testing available, knowing this information could be critical to your puppy’s success and health.
Why Canine Genetic Testing is so Valuable
by Martine Huslig on April 26, 2013 in Trixie's Paw PrintsAs a continuation of my last blog related to reasons that breeders give for not needing to do genetic testing, I felt that one of these deserved an entire blog of its own. Some breeders will say, "no problem has ever occurred in this family of dogs and I have been breeding this line for 20, 30, 40 years. I don't need to do genetic testing." From my perspective, these breeders either have not been looking very hard, aren't being particularly forthcoming, or denial is a wonderful thing (and a river in Egypt). When I started getting involved in what was referred to as a "very healthy breed" (per the people who had been breeding them for 20, 30, 40 years), I recognized 3 problems in my first 2 dogs that I would consider "genetic". I had not been told to look out for or ask about any of these issues in my extensive research on the health of the breed. In fact as I was at the breeder's home being told of this issue in my new puppy's mother and grandmother I was thinking, "Gee, that is a genetic problem that no one ever told me to ask about." Two years later two of her littermates had died due to the complications of this issue and yet, 17 years later, this issue is still not acknowledged as "genetic." People did acknowledge that the condition occurred "in the breed" but failed to acknowledge a genetic connection to the occurrence of the condition. It was labeled as "just a breed problem" or "that problem is just due to the size of the breed." The other was not acknowledged to occur in the breed at all, but I later discovered that people would whisper here or there about this dog or that puppy with the defect. I spoke pretty openly about the second problem including my experience with the female that I had bred that produced a puppy with the issue (I had not gotten the memo that this was a big no-no in certain parts of the dog world). Interestingly, it was ultimately dubbed by many as "just her dogs have this issue." Even more interestingly, the problem was identified as a significant concern in the breed in Germany about 7 years later and screening has been instituted throughout Europe. It is still not acknowledged in the US by the breed club as a specific issue in the breed. It does not appear to be common but that is difficult to say because an affected puppy could die young and go undiagnosed. It no doubt exists since reports of symptomatic dogs exist back many generations in US bred lines. The frustrating thing is, how many affected dogs could be avoided if people could readily speak openly about health issues that occur in their dogs/puppies? For whatever reason when a dog or puppy with a health issue is produced there seems to be a natural tendency to blame the breeder of the dog(s) for that problem. Instead of people applauding others for speaking up about an issue, in many breeds such people are castigated and blamed. Those who highlight only the good health of their dogs are applauded while those who speak honestly and openly about any negative aspect of their dogs are quite often ridiculed for having experienced "issues." From my perspective this is just the opposite from the approach that would be best for the dogs and the breeds. To be fair, there are some breeds that have been extremely proactive as a group in openly discussing and addressing the health issues that have cropped up in their dogs and in fostering an environment where such problems are openly discussed. As I have said before, the occurrence of health issues is an inevitable reality. If an environment of sharing can be fostered, issues can potentially be caught earlier rather than later (earlier being when fewer affected dogs have been produced). As a health issue is recognized and acknowledged many things can be done to address the issue. One, if a condition is difficult to recognize or diagnose, people who know there may be a risk have the potential to accurately diagnose affected animals. Two, as affected dogs are identified across the breed, breeding measures can be instituted to minimize the risk. Three, since many of the health issues in dogs mimic health issues found in humans, human research dollars can be accessed in addition to canine research dollars to identify the genetics of the condition. With this acknowledgment of disease, a causative gene mutation can potentially be identified to allow for genetic testing (as has occurred with so many of the disorders for which Paw Print Genetics™ offers testing). The ultimate subsequent benefit can be for both humans and dogs. One example (and there are many) is a disorder referred to as congenital stationary night blindness (CSNB) found in Briards. The gene mutation is in the same gene as a condition in humans called Leber congenital amaurosis type 2. Since this gene has been identified, researchers have been able to go steps further and use this discovery to attempt gene therapy on affected dogs with ultimate success in restoring vision in affected dogs. These are exciting results regarding the potential to treat children affected with this and other forms of hereditary vision loss while the availability of genetic testing has allowed Briard breeders to avoid producing affected puppies. A win-win for all involved. If people truly develop an understanding of health and genetics and acknowledge that genetic issues are a part of life and a part of breeding, an open environment of sharing information can be used to the greatest benefit of all especially the dogs. In some cases, the genetic diseases that Paw Print Genetics™ is offering testing for are conditions that many people in the breed have not heard of, but each of the gene mutations have specifically been identified in certain dogs of the breed. Screening for uncommon issues when the prevalence is low and few affected dogs have been produced can prevent the issue from becoming spread throughout the breed. Should a particularly lovely and talented male happen to carry an uncommon recessive gene mutation, this can be spread throughout the breed rapidly and not be identified until it has been passed to many offspring in many lines. Identification of and testing for a condition before it becomes widespread is a valuable option for breeders.
What is a “Carrier” of a Recessive disease?
Dogs inheriting one copy of the mutation from a single parent are considered “carriers” of the disease and will not develop clinical signs of the disease themselves. However, when bred with another dog which carries the same mutation, approximately 25% of the offspring will inherit two copies of the mutation and will be at risk for or affected with the associated condition. Therefore, in general, it is recommended to only breed a carrier to a dog which did not inherit the same mutation. Using statistics as a guide, this strategy is expected to result in a litter consisting of approximately 50% carrier offspring and 50% normal or “clear” offspring. Thus, avoiding the removal of the carrier dog and its unique combination of genetic variants that contribute to the overall genetic diversity of the breed while limiting the number of puppies born with the known, disease-associated mutation.
by Casey Carl on Sept. 27, 2016 in The Veterinarian's CornerGenetics play an enormous role in the health of dogs walking through the doors of any veterinary hospital. However, the treatment of an animal with an inherited disease rather than proactive testing of the genetic mutations responsible for disease has been the traditional role of the veterinarian. With an increase in the availability of canine genetic disease testing and great improvements in the ease and convenience of ordering genetic testing through Paw Print Genetics, more and more dog breeders and their clients are having genetic testing performed prior to being symptomatic and learning the benefits of these powerful technologies. As a veterinarian, understanding the basics of genetic testing and how genetic test results can be used to prevent and diagnose disease will keep you current and prepared for your clients as these technologies inevitably become a more significant part of clinical veterinary practice.
One of the more challenging but important aspects of canine genetic testing is deciding what recommendations to make when a dog or one of its relatives are found to be at risk for (or affected with) a particular inherited disease. Appropriate testing recommendations for the relatives of affected dogs may be crucial for prevention of additional affected puppies and identification of other dogs that may also be at risk of disease.
A Diseased Littermate
A pet owner arrives at your veterinary hospital with their young dog, Lucky and tells you that they were recently informed by Lucky’s breeder that one of Lucky’s littermates, Hope, has been diagnosed with an autosomal recessive inherited disease. Lucky has been completely healthy, but the client is obviously concerned that he is at risk. The client would also like to hear what genetic testing recommendations you would have for Lucky and Hope’s breeder. You conduct some online research and discover that the genetic mutation causing the disease is known for the breed and genetic testing is available. In order to make the most appropriate genetic testing recommendations for Lucky’s relatives and to fully understand Lucky’s risk for this disease, one has to consider how the disease is inherited, its age of onset, and whether or not the disease displays variability in the way it is physically expressed.
Inheritance
Genetic diseases can be inherited in a variety of ways (here’s a quick refresher). However, diseases inherited in an autosomal recessive fashion, such as the one described here, are most common. If the disease Hope is diagnosed with is autosomal recessive, by definition, both of Lucky and Hope’s parents would have to carry at least a single copy of the mutation and Hope would have inherited one copy of the mutation from each of her parents. However, depending on the disease and its clinical presentation, it is possible that one or both of Lucky’s parents could also be at risk for, or affected with, the same disease without obvious clinical signs.
Variable Expressivity
Some recessive inherited diseases display a phenomenon known as variable expressivity in which individual dogs affected with the same disease display variability in disease severity, age of onset or in the clinical signs associated with the disease. One example of a common canine disease displaying variable expressivity is the clotting disorder known as von Willebrand disease I (vWDI). Though it is understood that dogs need to have inherited two copies of the associated mutation to display the characteristic problems with clotting, some dogs have such a mild phenotype that they can go undiagnosed for years.
Other recessive inherited diseases display significant variation in their age of onset. One example of such a canine disease is a form of progressive retinal atrophy known as cone-rod dystrophy 4 in which affected dogs have been described to develop disease between 1 and 15 years of age. Therefore, using our example, it would be entirely possible for Hope to develop clinical signs of this type of disease long before her parents or other littermates might.
Testing Recommendations
Recessive diseases are particularly troubling for breeders because dogs inheriting a single copy of a disease causing mutation (“carriers”) do not show signs of the disease themselves, but can produce puppies with the disease if bred to another carrier of the same mutation. Based upon statistics, the breeding of two carriers results in all possible genotypes in their puppies; approximately 25% “clear” (no copies of the mutation), 50% carriers (one copy of the mutation), and 25% at risk/affected (two copies of the mutation). Therefore, all littermates of a dog affected with a recessive disease should also be tested in order to understand each individual’s risk. When dealing with a recessive disease that displays variable expressivity, it would also be strongly indicated to test the parents of affected puppies in order to determine their risks related to the disease as they may not yet show obvious clinical signs. In addition to determining health risks of the parents, in order to safely breed either of the parents again, determining whether they have inherited one copy or two copies of the associated mutation through genetic testing is particularly important.
Dogs carrying one copy of a recessive mutation can be safely bred to dogs clear of the associated mutation without fear of producing affected dogs. However, it should be understood that approximately 50% of the puppies from this pairing will be carriers of the mutation. In general, it would not be recommended to breed dogs with two copies of the mutation. However, in some cases breeding these dogs to clear dogs (rather than removing them from the gene pool) should be considered to prevent loss of genetic diversity within the breed (e.g. small breed populations, high mutation frequency in the population, etc.). It should be understood that 100% of the puppies from this pairing will be carriers of the mutation.
Preventing Inherited Disease Before It Happens
When it comes to genetic diseases, Ben Franklin had it right when he stated, “An ounce of prevention is worth a pound of cure.” In a perfect world in which every dog breeder performed genetic disease testing on their breeding stock and made selective breeding decisions using these results, diseases caused by over 200 known canine genetic mutations could be completely prevented. Therefore, recommending extensive genetic testing to your dog breeding clients might be one of the most impactful recommendations you will make all week!
Importance of Canine Genetic Testing Anytime You Breed
by Martine Huslig on April 22, 2013 in Trixie's Paw PrintsMany people with a "cute little dog" who are going to breed it to their friend's "cute little dog" and sell the puppies will say, "I don't need to do genetic testing on the dogs/parents, I am not a breeder." If you plan a litter of puppies, you are a breeder.
Other people will say, "There is nothing wrong with the mother and father, they are perfectly healthy. I do not need to do genetic testing." Carriers of genetic problems are often invisible and without testing; you cannot predict whether your litter will be at risk for disease.
Some people will say, "I am only breeding pets and I have never seen any issues in the puppies I produce. I do not need to do genetic testing." Pets are just as likely to get the genetic diseases associated with their breed as show or working dogs and in any scenario, people are quite obviously emotionally attached to their pets. $53.33 billion was spent in the US last year on pets with $13.67 billion of that spent on veterinary care alone (source). Many genetic issues do not get diagnosed as a genetic issue or may develop years after you have bred that dog. Health and genetic screening on the parents is important to minimize the chance that these issues will occur. It is just as important for pet owners, as it is to serious show dog owners, to have the healthiest dog possible. Health issues are health issues and often heartbreaking and expensive. Every measure possible should be taken to avoid health issues especially when genetic testing is as cost effective and readily available as it is from Paw Print Genetics™.
Some people will say, "I am only buying a pet. I do not need to get my puppy from a responsible breeder." A responsible breeder being one who does, amongst other things, health screens and genetic testing on their breeding dogs as indicated based on the family history and breed in order to ensure that they produce the healthiest puppies possible. Most often these potential buyers are saying this because they want to spend less on the purchase price of the puppy and feel that puppies from a "responsible breeder" cost too much. They are often failing to look at the long-term financial and emotional costs potentially involved in having a dog with health issues. Many of these people will not think twice about spending thousands on veterinary care, training, and grooming, but will balk at the purchase price of the puppy.
At the same time, high purchase price does not necessarily mean that the puppy is well bred or that genetic testing has been done. It is important for potential puppy buyers to look at the pedigree (genetic family history) of their new puppy, ask questions, and see documentation on health and genetic testing that has been done on the parents such as the Canine Genetic Health Certificate© that is offered by Paw Print Genetics™. They should request documentation of hip, elbow, and other breed specific health clearances available from organizations like the Orthopedic Foundation for Animals and PennHip. Prospective buyers should ask questions, research, and learn about the issues for which their puppy may be at risk. In some cases (especially if considering breeding their dog in the future) they may wish to have genetic testing done before they purchase the puppy. Because Paw Print Genetics&trade can screen for multiple genetic diseases with simple cheek swabs, this testing is easily done on puppies at relatively early ages. If the puppy purchased is not intended for breeding, the buyer may still be concerned that their new dog may develop an inherited condition. If the buyer intends on breeding the new puppy, remember that all living creatures carry gene mutations and non-working genes that have a potential to be an issue if they are bred with another carrier. However, from a health perspective, carriers should not be symptomatic (should not have the disease) and will make great pets. They may not be suitable under certain breeding circumstances to produce litters but being identified as a carrier of a recessive disorder in no way affects their suitability as a pet.
If you are producing puppies, those puppies have a risk for genetic disease. If you are producing puppies, you are a breeder. "Not being a breeder" does not remove the potential risk of genetic disease that comes with reproduction. This risk is why every expectant couple says "We want a boy (or "we want a girl)...but we do not care as long as the baby is healthy". By breeding purebred dogs, dogs of known heritage or intentionally bred dogs, there is an opportunity to screen for diseases to reduce the risk for genetic health issues as much as possible. By purchasing a puppy of known heritage, you have the opportunity to determine if testing has been done for diseases for which they are at risk based on their breed(s). With genetic testing you can avoid the diseases for which you tested. Although it will not exclude all possible inherited and acquired diseases, this is your best available option to increase the odds of having a healthy dog. With disease like ichthyosis, hyperoxaluria, severe combined immune deficiency and the many others that have genetic testing available, knowing this information could be critical to your puppy’s success and health.
Why Canine Genetic Testing is so Valuable
by Martine Huslig on April 26, 2013 in Trixie's Paw PrintsAs a continuation of my last blog related to reasons that breeders give for not needing to do genetic testing, I felt that one of these deserved an entire blog of its own. Some breeders will say, "no problem has ever occurred in this family of dogs and I have been breeding this line for 20, 30, 40 years. I don't need to do genetic testing." From my perspective, these breeders either have not been looking very hard, aren't being particularly forthcoming, or denial is a wonderful thing (and a river in Egypt). When I started getting involved in what was referred to as a "very healthy breed" (per the people who had been breeding them for 20, 30, 40 years), I recognized 3 problems in my first 2 dogs that I would consider "genetic". I had not been told to look out for or ask about any of these issues in my extensive research on the health of the breed. In fact as I was at the breeder's home being told of this issue in my new puppy's mother and grandmother I was thinking, "Gee, that is a genetic problem that no one ever told me to ask about." Two years later two of her littermates had died due to the complications of this issue and yet, 17 years later, this issue is still not acknowledged as "genetic." People did acknowledge that the condition occurred "in the breed" but failed to acknowledge a genetic connection to the occurrence of the condition. It was labeled as "just a breed problem" or "that problem is just due to the size of the breed." The other was not acknowledged to occur in the breed at all, but I later discovered that people would whisper here or there about this dog or that puppy with the defect. I spoke pretty openly about the second problem including my experience with the female that I had bred that produced a puppy with the issue (I had not gotten the memo that this was a big no-no in certain parts of the dog world). Interestingly, it was ultimately dubbed by many as "just her dogs have this issue." Even more interestingly, the problem was identified as a significant concern in the breed in Germany about 7 years later and screening has been instituted throughout Europe. It is still not acknowledged in the US by the breed club as a specific issue in the breed. It does not appear to be common but that is difficult to say because an affected puppy could die young and go undiagnosed. It no doubt exists since reports of symptomatic dogs exist back many generations in US bred lines. The frustrating thing is, how many affected dogs could be avoided if people could readily speak openly about health issues that occur in their dogs/puppies? For whatever reason when a dog or puppy with a health issue is produced there seems to be a natural tendency to blame the breeder of the dog(s) for that problem. Instead of people applauding others for speaking up about an issue, in many breeds such people are castigated and blamed. Those who highlight only the good health of their dogs are applauded while those who speak honestly and openly about any negative aspect of their dogs are quite often ridiculed for having experienced "issues." From my perspective this is just the opposite from the approach that would be best for the dogs and the breeds. To be fair, there are some breeds that have been extremely proactive as a group in openly discussing and addressing the health issues that have cropped up in their dogs and in fostering an environment where such problems are openly discussed. As I have said before, the occurrence of health issues is an inevitable reality. If an environment of sharing can be fostered, issues can potentially be caught earlier rather than later (earlier being when fewer affected dogs have been produced). As a health issue is recognized and acknowledged many things can be done to address the issue. One, if a condition is difficult to recognize or diagnose, people who know there may be a risk have the potential to accurately diagnose affected animals. Two, as affected dogs are identified across the breed, breeding measures can be instituted to minimize the risk. Three, since many of the health issues in dogs mimic health issues found in humans, human research dollars can be accessed in addition to canine research dollars to identify the genetics of the condition. With this acknowledgment of disease, a causative gene mutation can potentially be identified to allow for genetic testing (as has occurred with so many of the disorders for which Paw Print Genetics™ offers testing). The ultimate subsequent benefit can be for both humans and dogs. One example (and there are many) is a disorder referred to as congenital stationary night blindness (CSNB) found in Briards. The gene mutation is in the same gene as a condition in humans called Leber congenital amaurosis type 2. Since this gene has been identified, researchers have been able to go steps further and use this discovery to attempt gene therapy on affected dogs with ultimate success in restoring vision in affected dogs. These are exciting results regarding the potential to treat children affected with this and other forms of hereditary vision loss while the availability of genetic testing has allowed Briard breeders to avoid producing affected puppies. A win-win for all involved. If people truly develop an understanding of health and genetics and acknowledge that genetic issues are a part of life and a part of breeding, an open environment of sharing information can be used to the greatest benefit of all especially the dogs. In some cases, the genetic diseases that Paw Print Genetics™ is offering testing for are conditions that many people in the breed have not heard of, but each of the gene mutations have specifically been identified in certain dogs of the breed. Screening for uncommon issues when the prevalence is low and few affected dogs have been produced can prevent the issue from becoming spread throughout the breed. Should a particularly lovely and talented male happen to carry an uncommon recessive gene mutation, this can be spread throughout the breed rapidly and not be identified until it has been passed to many offspring in many lines. Identification of and testing for a condition before it becomes widespread is a valuable option for breeders.
What is a “Carrier” of a Recessive disease?
Dogs inheriting one copy of the mutation from a single parent are considered “carriers” of the disease and will not develop clinical signs of the disease themselves. However, when bred with another dog which carries the same mutation, approximately 25% of the offspring will inherit two copies of the mutation and will be at risk for or affected with the associated condition. Therefore, in general, it is recommended to only breed a carrier to a dog which did not inherit the same mutation. Using statistics as a guide, this strategy is expected to result in a litter consisting of approximately 50% carrier offspring and 50% normal or “clear” offspring. Thus, avoiding the removal of the carrier dog and its unique combination of genetic variants that contribute to the overall genetic diversity of the breed while limiting the number of puppies born with the known, disease-associated mutation.