The Paw Print Genetics Blog

The Veterinarian’s Corner: Genetic Heterogeneity and Its Importance in Dog Breeding

The Veterinarian’s Corner: Genetic Heterogeneity and Its Importance in Dog Breeding

The discovery of various disease-associated genetic mutations has greatly changed the way some inherited canine diseases are categorized and perceived by the veterinary community. Through the use of genetic testing developed to identify these discovered mutations, various diseases which were once assumed to have a single underlying molecular cause (due to similarity between disease states) have been found in some cases to actually be caused by many different mutations, often in different genes. This phenomenon, known as genetic heterogeneity, elucidates the way genes work together in pathways and how a disruption in different genes of a pathway may result in similar or nearly identical disease states despite seemingly disparate underlying molecular etiologies. Understanding that there may be one of many different genetic mutations responsible for a dog’s clinical signs can help plot a better course for veterinarians to obtain an accurate, definitive diagnosis and in some cases, may alter treatment strategies.

Pet Owner vs Breeder

The accuracy and specificity of an inherited disease diagnosis are particularly important in the world of dog breeding where every potential health issue must be considered prior to breeding. Unlike general pet owners who may not need to know the specific underlying molecular mechanisms of ...

The Complexities of Genetic Testing and Counseling: Accuracy, Penetrance and Validity, Oh My!

The Complexities of Genetic Testing and Counseling: Accuracy, Penetrance and Validity, Oh My!
Photo showing the diversity of coat colors and patterns within the Australian Shepherd.

As a laboratory that works directly with breeders and dog owners, Paw Print Genetics (PPG) is often asked to reassure the customer that our tests accurately determine whether a dog will get a disease.  The customer is actually asking a couple of different questions; one involving the accuracy of the test itself and one regarding the clinical validity of the test. It is important to understand the questions being asked so that the answers make sense.

The first question being asked is: Does the test perform accurately to determine if a dog is normal/clear, a carrier of one copy of the mutation or at risk, having two copies of the mutation. At PPG, our tests are extensively validated and must show 99.9% specificity and sensitivity before being available for ordering. Sensitivity is defined as the proportion of samples with a known mutation that are correctly classified/identified as carrier or at risk by their genotypes. Specificity is defined as the proportion of samples with no known mutation that are correctly classified/identified with the wildtype (normal) genotype for the disease.  This all refers to whether the test result accurately reflects the true genotype of the individual. At ...

Merle Coat Color- What Veterinarians Should Know

Merle Coat Color- What Veterinarians Should Know

While advancements in science, medicine, and agriculture have played a role in decreasing the relative importance of the dog in human survival, their importance as pets, companions, and surrogate family members may be greater than ever. Once more commonly selected for their athletic prowess and behavioral traits, the rise of dog fancying over the past 250 years has elevated the importance of canine aesthetics to previously unprecedented heights. As a result, dog breeders have historically gone to great lengths to produce dogs with unique phenotypic characteristics desirable to potential pet buyers. While most of these characteristics are simple, mendelian genetic traits without health concerns, some desirable and interesting traits such as the merle coat color pattern are unique to domestic animals and bring with them a complexity and potential health concerns that veterinarians should be aware of in their goal of facilitating canine health and wellbeing. 

An Interesting Mutation for an Interesting Haircoat

In 2006, Dr. Leigh Anne Clark and others identified a semi-dominant genetic mutation responsible for the merle coat color pattern commonly seen in numerous dog breeds including the Australian shepherd, collie, border collie, and dachshund. Merle coat color is marked by areas of normal, eumelanistic pigmentation ...

Happy New Year, from the CEO of Paw Print Genetics

Happy New Year, from the CEO of Paw Print Genetics

As one year closes and we begin a new, I like to take this time to reflect on the accomplishments of Paw Print Genetics (PPG).  It still amazes me that in such a short time (PPG was founded in 2012), we have become the most trusted laboratory in the industry.  Even if we didn’t do the testing, breeders come to us for advice and help in figuring out the sometimes complex nature of genetic testing results.  Perhaps this is because we are so accessible. PPG employs PhD geneticists and licensed veterinarians who are on-staff and in our offices, available by phone for consultation about your breeding program, a particular dog that needs testing, or a specific result.  Providing genetic counseling and a helpful ear is so important for assisting breeders in navigating the ever-changing world of canine genetics.

As in previous years, PPG had many accomplishments this year. Only a few are highlighted in the following paragraphs. For me, our biggest accomplishment is how fast we continue to grow and the number of new breeders who tried us for the first time this past year.  These new customers are finding us mostly from you – our current ...

Canine Genetic Disease Testing Prior to Other Health Clearances- Why It Makes Sense

Canine Genetic Disease Testing Prior to Other Health Clearances- Why It Makes Sense

Once only a dream for dog lovers, technological advances in the sciences have now made testing for certain inherited diseases a mainstay of modern dog breeding. With knowledge of specific, disease-associated genetic mutations and an understanding of how these diseases are inherited, tests can be developed to identify dams and sires at risk of producing affected puppies. With this knowledge, informed decisions can be made in selecting mates which can safely be bred together.

As the Associate Medical Director at Paw Print Genetics, I have heard many different strategies employed by our clients to get required or recommended health clearances performed on their dogs prior to breeding. Some choose to break up the testing over time to spread out the cost and many choose one type of health clearance to be performed first with other testing to be completed upon the results of the first round of testing. For a variety of reasons, I propose that performing genetic testing on breeding dogs prior to other health clearances is a practical option that may be in the best interest for many breeders.

Test at Any Age

One advantage to performing genetic health testing prior to other clearances is that genetic testing ...

Muffin Tin, Muffin Tin, oh where did I put my Muffin Tin?

Muffin Tin, Muffin Tin, oh where did I put my Muffin Tin?
Illustration on how to use a muffin tin to dry your samples. On the left shows how to organize the cups and write important identifiers for each sample. On the right illustrates putting the samples into individual bags after they have dried.

Our Paw Print Genetics (PPG) clients frequently share with us some of the great ideas they utilize to help in their quest to produce happy and healthy litters. Recently, one of our wonderful clients (for this blog, I will call her Carol) gave me an awesome tip regarding her method for drying out umbilical cords, docked tails, or dew claws that she intends to send to PPG as samples for DNA extraction and genetic testing.

Carol’s method involves pulling out her old trusty muffin tin and using the paper liners typically used for baking. Carol prepares one paper liner for each puppy by writing the specific puppy’s name (most commonly corresponding to the puppy’s collar color)  as well as the Paw Print Genetics ID number that is generated on the PPG website when a dog is added to an account.  She then places each liner into one of the metal cups in the muffin tin.

As her veterinarian collects each sample, Carol carefully deposits each sample into the labeled liner corresponding to the correct puppy. To prevent DNA contamination between puppies, she requests that the veterinarian clean the tools and change gloves before collecting the sample on the next pup ...

Paw Print Genetics Leads the Pack for Standards and Guidelines for Canine Clinical Genetic Laboratories

Paw Print Genetics Leads the Pack for Standards and Guidelines for Canine Clinical Genetic Laboratories

When Paw Print Genetics (PPG) started our laboratory in 2012, we entered a rather mature market place with other canine genetic testing laboratories well established, some for over 20 years. However, we were shocked and disappointed to learn that there were no quality standards or guidelines in place for these laboratories to follow. As such, each lab was “doing their own thing” and it was very difficult for the breeder or dog owner to discern which laboratory was providing quality genetic testing that was accurate and could be trusted in their breeding program.

The founders of Paw Print Genetics, Lisa G. Shaffer, PhD, FACMG, CEO, Blake C. Ballif, PhD, Director of Operations, and Kyle Sundin, Senior Manager, Development and Laboratory Operations, worked together prior to starting PPG in a human genetics diagnostic laboratory. Human clinical genetics laboratories follow the Standards and Guidelines set forth by the American College of Medical Genetics and Genomics (ACMGG). Because there were no standards in canine testing and our founders were used to working under the guidance of the ACMGG, we set up our laboratory, protocols, policies and procedures as if PPG was a human genetics diagnostic laboratory. As such, every gene mutation has been ...

Who To Test? - Canine Autosomal Recessive Genetic Diseases

Who To Test? - Canine Autosomal Recessive Genetic Diseases

Genetics 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 preemptively 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) an inherited disease. Appropriate testing recommendations for the relatives of affected dogs may be crucial for prevention of additional affected puppies and identification of ...

Keep Breed-Specific Thinking from Delaying Your Diagnosis

Keep Breed-Specific Thinking from Delaying Your Diagnosis

Discovery of disease-associated, canine genetic mutations has greatly increased over the past two decades. As a result, identification of these mutations through genetic testing has quickly become a useful tool for dog kennels and veterinary practices by allowing for the identification of asymptomatic disease carriers, diagnosis of affected dogs, and prevention of inherited diseases through informed breeding practices. However, because mutation discovery is often funded by specific breed clubs with interest in a breed-related disease concern, study investigators may not perform extensive, species-wide population studies for a newly discovered mutation. Therefore, in many cases, additional breeds inheriting the same mutation (and developing the same disease) may remain unknown for quite some time after the initial discovery.

As any modern veterinarian can attest, for better or worse, animal lovers have more veterinary medical information at their fingertips than ever before. Occasionally, at Paw Print Genetics, we are contacted by breeders or owners whose veterinarian had opted not to pursue a diagnosis that the client suspected because of the veterinarian’s historical understanding of a disease’s breed-specific distribution rather than the current knowledge. For veterinarians building a differential diagnosis list, keeping the mind open to a particular inherited disease manifesting in an unexpected ...

Paw Print Genetics Offers Tests for the Alaskan Malamute

Paw Print Genetics Offers Tests for the Alaskan Malamute

Genetic testing is important for any breed, for the dog’s individual health and wellbeing as well as for any breeding dogs to ensure healthy puppies in future generations. Paw Print Genetics offers genetic testing for three diseases known to occur in the Alaskan Malamute. Testing for these diseases provides you the information that you need to keep your dog healthy and to select appropriate breeding pairs to avoid producing affected puppies.

The first disease is the Alaskan Malamute Polyneuropathy. This disease is an inherited neuromuscular condition that affects dogs between the ages of 3 and 19 months of age. The first signs of this disease may be a change in their bark, noisy breathing, exercise intolerance and loss of hindlimb coordination. The disease is progressive resulting in muscle wasting, abnormal gait or inability to walk. Testing of this disease is required for CHIC and using results in your breeding program can eliminate producing affected pups.  This disease is inherited in a recessive manner meaning that two copies of the mutation are required to produce the symptoms of polyneuropathy. Dogs that have one copy of the mutation are carriers and are not affected. Breeding carriers to clear (normal) dogs will ...