Tag archives: risk

In the first part of this examination of risk assessment and genetic testing, I dissected the concept of risk.  Although relative risk is incomplete without the perspective provided by absolute risk, logistical constraints within veterinary research often limit this perspective.  There is still value to these tests. In this next entry, I want to look at specific genetic tests where the result is functionally a risk assessment.  Hopefully, you will better understand how to use the information provided by these tests with the goal of producing better dogs with each generation.    

Genetic testing for dermatomyositis (DMS) is a true risk assessment test. Results from this test place a dog in risk categories of low, medium, high, and unknown.  This type of risk assessment is uncomplicated.  For each possible genotype listed in the report, the percentage of affected dogs in that group has been determined. Based on the genotype, the likelihood of an individual dog developing DMS is classified as low (0% - 5%), moderate (33% – 50%), or high (90% – 100%).  These percentages correlate with the absolute risk for these dogs. With this test result, decisions about breeding a dog can be made ...

Paw Print Genetics offers tests that can be categorized into two types.  Most tests offered directly test for a DNA change (or mutation) that causes a disease. For a small number of diseases, we test for a mutation that increases “the chance” that a dog will develop a disease. These have been termed risk variants. Recently, we have been getting a lot of questions about these risk variants and what a positive result means for your dog.  One example is dermatomyositis (DMS) testing, which generates an associated risk (low, moderate, high, or unknown) for this skin condition.  Chondrodystrophy (CDDY) is another example in which the test is for a mutation that causes abnormal cartilage formation and having the mutation may put a dog is at an increased risk for intervertebral disc disease (IVDD).  If you have a Labrador that carries one or two copies of the ATP7B mutation for copper toxicosis, this mutation puts a dog at a greater risk of developing the disease compared to dogs without the mutation. This risk may be mitigated if the dog also has one or two copies of the ATP7A protective mutation for copper toxicosis, which may reduce the ...

Degenerative myelopathy (DM) is a chronic, progressive neurologic condition that typically develops in the latter third of a dog’s life. DM starts in the central portion of the spinal cord then gradually progresses to involve all spinal cord segments. ¹ Although DM is unique to the dog, it is a natural-occurring model of human amyotrophic lateral sclerosis (ALS) also known as Lou Gehrig’s Disease.^3,4 In dogs, the common form of DM results from a DNA change (mutation) in the SOD1 gene. This is a recessive condition, meaning that dogs with two copies of the mutation are at risk for developing DM. For most affected dogs this condition develops late in life, however a change in the DNA at a different gene than the SOD1 gene has been identified in some dogs that modifies the risk for DM in the Pembroke Welsh corgi. In dogs that have two copies of the at-risk DM mutation and have one or two copies of a mutation found in the SP110 gene, will reduce the age of onset for DM.   

Typical DM presents with dysfunctional and abnormal movements of the pelvic limbs around 8 years of age or later. Dogs may ...