Testing Pets for Genetic Diseases
I just ran across a fabulous service run by the University of Pennsylvania’s School of Veterinary Medicine — specifically their genetic testing facility operated through the Section of Medical Genetics called PennGen. PennGen is “a collection of laboratories that coordinate as a not-for-profit unit, offering routine testing for a variety of genetic diseases, metabolic screening for inborn errors of metabolism, and a number of other diagnostic genetic services. PennGen also engages in research to uncover the genetic basis of a wide range of diseases in domestic animals.”
That, of course, is very important work when it comes to reducing the incidence of inherited disorders in animals, but what I like most is a feature on the PennGen website that allows veterinarians and owners to quickly search for genetic tests that are available for particular breeds of dogs and cats. I can’t say that I’ve enjoyed all the research I’ve done in the past when faced with a client who is interested in genetic testing. It’s been a multistep process:
- Determine what genetic diseases the breed is at risk for.
- Determine if a test is available for some or all of those diseases.
- Determine which labs offer those tests and how to get samples to them.
This process can sometimes take an inordinate amount of time. I don’t mind doing the research for my breeder clients since they often already have an idea of what they’re looking for and I know I’m going to use the information more than once, but when faced with an owner who “might” be interested in testing their (insert name of breed I’ve never heard of here), I couldn’t help but resent spending my lunch break trolling through references and the internet.
The PennGen site is pretty cool. If you go to the Canine and Feline Hereditary Disease (DNA) Testing Laboratories page, you can search by disease, breed, or laboratory. The “breed” function is the most useful. Just select your pet’s species and breed from the drop down menus and a list of diseases/mutations that can be tested for will appear. A link to information about the condition is even provided, although this feature is not currently available for all diseases.
If you want to make your veterinarian’s day, simply print out the “Disease Gene Mutation Information” and contact information for the laboratories that are provided by the PennGen website and hand it over during your appointment. The doctor will surely thank you for allowing him or her to reclaim a lunch break.
Dr. Jennifer Coates