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 ...