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The field of canine genetics is a labyrinth of terms that may appear daunting to those unfamiliar with its intricacies. As genetic testing becomes more commonplace, understanding the language used to describe genetic information is crucial. Different genetic testing providers also use different terminology, contributing to this confusion. These terms can be interchangeable, with subtle differences. This article aims to provide an overview of key genetic terms found in canine genetic reports.

 

Variations of Normal Results

  1. Wild Type
    • The Wild Type represents the standard, most common form of a gene or genetic sequence found in a population.
    • In genetic testing, a result aligning in the Wild Type suggests that the individual’s genetic makeup is in line with the norm, showing no significant variations or mutations.
    • This interpretation can be confusing as more genetic information becomes available. What dogs are used to determine normal? The Wild Type could also vary by breed.
    • The Wild Type is commonly abbreviated as WT.
  2. Clear
    • In the context of genetic testing, “clear” often signifies the absence of a particular mutation or variant (both will be defined below).
    • For instance, if a genetic test for a hereditary condition comes back clear, it means the individual does not carry the genetic mutation associated with that disorder.
  3. Normal
    • A term commonly used in genetic testing to denote that the results fall within the expected range for a particular gene or genomic region.
    • It is essential to note that what is considered normal may vary depending on the specific genetic test and the population being assessed.

 

Variations of Abnormal Results

  1. Mutant
    • The term “mutant” describes a gene or genetic sequence that deviates from the Wild Type.
    • Mutations can be benign, harmful, or even beneficial, depending on their impact on the function of the gene.
  2. Variant
    • A genetic alteration that is different from the Wild Type may not necessarily be associated with disease or dysfunction.
    • Variants are part of natural genetic diversity within a population and can be classified based on their impact on health.
  3. Carrier
    • A carrier is an individual who possesses a copy of a genetic variant associated with a recessive condition but does not show clinical signs of the disorder.
    • Carriers can pass the mutated gene to their offspring, potentially leading to the expression of the disorder in the next generation if both parents are carriers.
  4. Affected
    • An affected individual refers to a dog that exhibits clinical signs of a genetic disorder.
    • In genetic testing, determining whether a dog is affected is crucial inn understanding the clinical implications of a particular genetic variant.
  5. Incomplete Penetrance
    • Incomplete penetrance occurs when individuals carrying a genetic mutation to not express the associated phenotype (observable characteristics) of the disorder.
    • This phenomenon adds complexity to genetic testing interpretation, as the presence of a mutation may not always correlate with the manifestation of the associated condition.
  6. At-Risk
    • The term “at-risk” is often used in the context of genetic testing to identify dogs that have an increased likelihood of developing a particular genetic disorder due to family history or other risk factors.
    • Genetic testing can help determine whether a dog is indeed at risk based on their genetic makeup.
    • At-risk genetic tests will become more common as canine genetic testing advances in the coming years.

 

Understanding these key genetic terms is crucial for making informed breeding decisions. Genetic counselors play a vital role in helping individuals navigate the complexities of genetic information, providing support and guidance in interpreting test results. As the field of canine genetics continues to advance, a nuanced understanding of these terms empowers breeders, puppy buyers, veterinary professionals, and the public to engage with genetic information responsibly and proactively.