Tag archives: Accurate genetic testing

It is hard to believe that it has been a year since Paw Print Genetics opened its doors and started offering its testing service.  A lot has happened since then.  Prior to offering our testing services for inherited diseases of canines, we had a lot of work to do. We spent many weeks combing the medical literature with the goal of identifying all of the disease mutations associated with medical problems in dogs. After the mutations were identified in the public literature, we developed the tests that showed whether a dog had the normal or mutated DNA sequence. 

For each mutation, two different tests were developed, so that each DNA sequence is examined two times in two different ways. This is how we achieved 100% accuracy and 100% reliability with our testing.  Once the two tests were developed, we then validated the tests. To do this, we enlisted the help from many of our current customers to provide samples on dogs that were known normal, carriers or affected with the diseases for which we developed tests. The results from these samples were submitted to the laboratory directors, PhD geneticists and licensed veterinarians, for review of the data without ...

In the world of human genetics, stories related to hereditary cancer predisposition syndromes have recently made quite a splash in the media.  For example, actress Angelina Jolie made a very public decision to have a double mastectomy in order to reduce her breast cancer risk.  There are other popular stories as well.  Although hereditary cancer predisposition syndromes are not as common in the canine population as they are in the human population, knowing a little information about these genetic conditions and how they work may impact breeding practices. 

What exactly is a hereditary cancer predisposition syndrome?  Those are a lot of complicated words.  Let’s dissect that phrase: 

                  Hereditary – inherited, genetic, passed from parent to offspring. 

                  Cancer – uncontrolled invasive abnormal cell growth. 

                  Predisposition – tendency towards or gravitation to. 

                  Syndrome – a group of symptoms with a single cause.

A hereditary cancer predisposition syndrome gives the affected individual a tendency to develop cancer.  Cancer, for the most part, is multifactorial.  That means there are genetic and environmental influences.  However, hereditary cancer predisposition syndromes have a much greater genetic influence than environmental influence ...

Genetic testing may seem simple on the surface.  Order a test.  If it’s positive, the dog will have symptoms.  If it’s negative, there is no risk for the disease.  Open and shut.  However, there are many molecular details that can make genetic testing extremely complicated.  Today’s topic is reviewing these facts and how they impact the diagnosis of a genetic condition and the chance it may happen again.  My goal isn’t to bestow upon you an honorary degree in genetics, but to help you understand how these diseases are diagnosed and how genetic testing for those diseases is designed and interpreted.

Although genetic testing is expanding at an extremely fast pace, it is not perfect.  Genetic testing can allow you eliminate certain conditions but, unfortunately, nobody has a crystal ball and can therefore, not exclude all possible diseases in any dog. Genetic tests are designed after a mutation causing a disease has been described in the medical literature. It may be a mutation common in a particular breed or it may be very rare. In addition, it may not be the only mutation in that gene, or there may be other genes ...

When it comes to diagnosing genetic conditions in dogs (or in humans), doctors use a variety of clues.  One of those clues may not necessarily be what the physical symptoms are, but when did the physical symptoms start happening.  Today’s blog focuses on the when, not the what, of genetic diseases.  Although the when of genetic disease does not exclude the importance of what; when will be today’s topic.  Now that I’ve thoroughly confused you and you may be thinking about the old slapstick comedy routine “Who’s on First” by Abbot and Costello, let’s get started. 

“Congenital” is a term that often floats around the medical community when discussing disease symptoms.  It simply means “present at birth”.  This complicated word comes from the Latin root “congenitus”, which literally means “born together with”.  Con – with; genitus – to bear, or beget.  If a symptom or group of symptoms is seen right when a pup is born, it is congenital.  When making a diagnosis of an inherited genetic condition, knowing the symptoms are congenital can shorten the list of what genetic condition may be the cause.  Only recently has canine ...

Paw Print Genetics often gets asked about an optimal time to swab a new litter of puppies. When reviewing these tips, please keep in mind that it can take up to two weeks to obtain results once Paw Print Genetics has received the swabs.  Therefore, allow plenty of time for the laboratory to process your samples before promising a specific date that the puppy can join its new home.

Puppies and dogs can be tested at any age. However, it is a good idea to allow the puppies to stabilize after birth, bond with their mother, and demonstrate that they can feed and grow before testing.  You do not have to wait until the puppies are weaned; once the puppies are stable and thriving, they can be swabbed.  For puppies that are not weaned, the puppies should be separated from their mother for at least two hours prior to swabbing. This is to ensure we get the DNA of the puppy instead of the mom's DNA. During this time, they should have plenty of water and should not be allowed food to avoid contamination of samples. Once the swabbing is completed, the pups can rejoin their ...

Have you ever wondered what goes on in a genetic testing laboratory? What kinds of measures are taken to guarantee quality testing? For example, does the laboratory that you use have what is pictured - a clean room? What is a clean room and why should they have one? And why can’t you bring your dog directly to the laboratory for swabbing?

Paw Print Genetics has received a lot of questions about our testing quality and accuracy – and we love it! Ask away! We like to talk about our lab and the careful approach we take to testing to ensure that your results are reliable and accurate. Otherwise, what’s the point?

A genetic testing lab must have accurate and reliable results. They should have performed validation studies for each of the diseases and mutations that they offer. Does your testing lab provide you with the test’s sensitivity and specificity for the diseases you are concerned about? Have you asked for this?

During our validation studies, we assessed eight performance criteria for each test: accuracy, precision, analytical specificity, analytical sensitivity, detection limits, reportable ranges, reference intervals and robustness. For example, accuracy refers to getting the right results; whereas, precision refers to ...

Degenerative myelopathy (DM) can be a devastating disease. Some breeds with this disease will lose the ability to walk in their later years – certainly after the age most dogs are bred. The mutation has been found in more than 70 breeds, which indicates that the original mutation might have occurred hundreds or thousands of years before many of the modern dog breeds emerged.

However, the frequency of the mutation varies between breeds and certainly the risk of developing the clinical disease seems quite distinct and breed-specific. For example, the frequency of carriers and homozygous mutation (affected) dogs in the Kerry blue terrier is about 52%(1), while carriers and affected dogs make up 91% of Pembroke Welsh corgis in Japan (2). Although wire fox terriers have a similar combined carrier and at-risk frequency of 90%, none have ever developed the clinical signs of DM (3).

In a 2001 study by Moore et al., German shepherd dogs had nearly twice the risk for death associated with spinal cord diseases, compared with Belgian shepherd dogs among military dogs (4). Although we don’t know for sure if the spinal cord disease was DM, certainly DM is one of the more common causes of this type of disorder ...

Neuronal Ceroid Lipofuscinosis (NCL) is a group of inherited mammalian diseases characterized by abnormal accumulations of a metabolic byproduct known as lipofuscin in nerve cells and various organs of the body.  The accumulation of lipofuscin eventually leads to progressive nerve cell dysfunction and severe neurological symptoms including behavioral changes, balance issues, muscle atrophy, uncoordinated movement, blindness, head tremors and seizures.  Other organ systems can also be affected to various degrees depending on the severity of lipofuscin build up.  Most dogs will die due the disease or are euthanized when neurologic problems progress to the point of preventing normal daily activities.  While most types of NCL begin to cause clinical signs around 1 to 2 years of age in dogs, the age of onset and speed of progression vary significantly upon the type of NCL.  Variable presentation and progression among NCL types is expected given that multiple genes can cause this clinical condition.

Unfortunately, details about disease incidence and prevalence within a breed are often difficult to obtain including NCL.  Without going into an in-depth discussion about statistics, among other conditions, in order to estimate incidence and prevalence of disease for an entire population, individuals ...

The Spokane Police Department’s K-9 Unit is highly trained to fight crime and help keep our city safe. When highly trained canines used in police work are prematurely retired due to health issues, it costs the department extra resources and manpower to get new canines up to speed. German shepherds and Belgian malinois, two of the most popular breeds used for tracking, suspect apprehension, building and vehicle searches, as well as search and rescue, can cost tens of thousands of dollars. Even if the dog comes with a financial or replacement-dog guarantee, the weeks of specialized and intense training with officers represent an un-recoupable monetary loss in man-hours.

To that end, Paw Print Genetics recently collaborated with our hometown police force, the Spokane Police Department, and their K-9 Unit to genetically screen the six dogs patrolling our streets. While none of the hardworking dogs have displayed any sort of symptom related to genetic disease, the information gathered from the screening will give the department a baseline reading of each dog’s genetic health, which could be useful in future health screenings, any medical issues and treatments.

Additionally, and perhaps more importantly, the Spokane Police Department conducts a small breeding ...

At Paw Print Genetics, we’re seeking to raise the standard of canine genetic diagnostic and carrier screening testing from start to finish. We strive to provide the best customer service in the industry and have implemented procedures that are above and beyond those currently used in the marketplace. Here’s just a quick look at what we’re doing to help serve you and your dog better:

Postal Standards: The U.S. Postal Service has outlined how animal specimens may be shipped, and that includes cheek swab samples tested in labs all across the country. Among those requirements: triple-packaging of samples, a rigid fiberboard or equivalent container to protect the samples, the use of the international biohazard symbol on the second packaging and the words “exempt animal specimen” on the outside of the shipping package. Because these standards are necessary and exact, we provide the kits to you with each order that conforms to the USPS standards.

Reports: Our detailed reports will clearly state the results of every test you ordered and will give actionable information that you can use. These interpretations and recommendations give you the knowledge to breed your dog more conscientiously, information about any known genetic ...