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An Urban Experience
Various websites on dog health and breeding make claims that dogs have the highest number of genetic disorders among domesticated animals, with numbers ranging from 225 to as high as 619. The message being sent is that there are a large and increasing number of genetic diseases in dogs. To keep things in perspective, the OMIM catalog of disease phenotypes (humans) lists approximately 8500 identi ed mutations and the WHO estimates that over 10,000 human diseases are known to be monogenic. Remembering that humans and dogs share 84 percent of their DNA, why should we be so shocked at the number of conditions in dogs?
The relationship between human and dog genetics however has an even bigger impact on our understanding of inherited disease in dogs. Here are quotes from refereed publications:
•A majority of canine genetic diseases have their counterparts in humans and thus dogs are considered as a very important ... animal model in human biomedicine (4).
•Millions of children worldwide are born with rare and debilitating ... disorders each year. .... Dogs are coming to the rescue ... Hundreds of spontaneous genetic conditions have been described in dogs, most with close counterparts to human rare disorders. ... examples include the canine models of human Caffey (SLC37A2), van den Ende-Gupta (SCARF2) and Raine (FAM20C) syndromes.(5)
The cautions we should take-away include: many of
the diseases studied in dogs and the resultant DNA tests, came/come about because of research focused on (and funded because of) corresponding diseases in humans. Many of these are rare in humans and extremely rare in dogs. There is a heavy emphasis on monogenic conditions. The number of inherited conditions so far discovered in any species or breed is primarily in uenced by research funding and focus. Just because a disease has been studied and a test has been developed does not mean it is an important disease for the breed or
the dog population in general. There will always be an increasing number of inherited diseases discovered. We must learn to balance evidence on importance, application, validity etc. to appropriately take advantage of the tremendous potential for advanced technologies to inform our practice.
Purebreds vs. mixed breed dogs
It is important to realize that many inherited conditions occur across all dogs; some breeds have an increased risk of speci c conditions. A study from 2013 compared mixed and purebred dogs (6). Results indicated that:
Of the 24 disorders assessed, 13 had no signi cant difference in the mean proportion of purebred and mixed-breed dogs with the disorder when matched for age, sex, and body weight. Potentially inherited disorders without a signi cant predisposition included, e.g. all the
neoplasms, several cardiac conditions; hip dysplasia and patellar luxation; hypo- and hyperadrenocorticism; and lens luxation. Ten disorders were more prevalent in purebred dogs, e.g. aortic stenosis and dilated cardiomyopathy, hypothyroidism, elbow dysplasia and IVDD, and atopy or allergic dermatitis, bloat, cataracts, epilepsy, and portosystemic shunt. Some of the odds ratios were not large, indicating that even if there is an increased risk for purebreds, the conditions also occur in mixed breed dogs. This study and others show that the situation is complex; we cannot blame all inherited disease on selective breeding; and inherited disease is common in all dogs.
There are several other questions that need to be considered.
•Is it just about purebreds vs. non-purebred dogs? What about source?oIn many countries less than 20% of apparent purebred dogs come from breeders associated with a national kennel or breed club; the majority come from other sources, including commercial breeders. This has major implications on the options to institute programs aimed at health breeding.
•What are the human-animal interactions in breed popularity and inherited disorders, especially those related to appearance and personality?
•Have the profession and individual veterinarians been complicit in problems of inherited disease purebred dogs? Each veterinary practitioner should consider what they can do - from being aware of the messages they send on their clinic Facebook page to whether they implicitly or explicitly accept as ‘normal’ abnormalities in certain breeds, and whether they comply with efforts to improve data sharing.
It is clear that no veterinarian in practice can keep
up with all developments in genetics, genomics and epigenetics; burgeoning numbers of tests and labs;
or regulations and recommendations. Veterinarians
must avail themselves of all strategies at their disposal, including partnership building with clients, recognizing when the situation is beyond their experience or expertise, and knowing where to go to  nd help (experts or information). All stakeholders in dog health must
work to develop and share information and tools to help practitioners (e.g. WSAVA Hereditary Disease Committee and database ( and the International Partnership for Dogs and their Harmonization of Genetic Testing for Dogs initiative ( There are exciting multi-stakeholder, international efforts underway and together we can make a difference in the health and welfare of our cherished pet populations.

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