AKC eNewsletter

DNA and the Simple Sample

Is there an easier way to get DNA to researchers who need it? Yes, says Newfoundland breeder Patti McDowell

It started with Evie. And the mailman.

We had not produced a puppy with sub-aortic stenosis (SAS), a genetic and congenital heart condition, in close to nine years. So, when Evie failed her puppy cardiac screening, I was devastated. Devastation quickly turned to investigation: Who is doing a study on SAS, and where should I send a DNA sample? I also realized that not only would Evie’s DNA be potentially valuable, but her sire, dam, and littermates would also be important to researchers.

Courtesy Patti McDowell

But which researchers? And what about future research? If Evie died, how would I store enough DNA for research that might come down the road?

A few days later, the mailman brought a few envelopes. All were research requests for DNA on all of my dogs for a variety of projects. I groaned as I opened the envelopes. Yes, I would cooperate and participate. But by the time I filled out the last of those tiny swab envelopes—where they never give you enough room to write the dog’s name and number!—I was grumbling and swearing that there has to be a better way.

This led me directly to the Canine Health Information Center (CHIC) DNA Repository. I had seen it in passing, found it very interesting, but never gave extensive thought to how this storage system applied to my dogs and my breed. Suddenly the “light bulb” came on. Not only was this the answer to What do we do with the DNA of Evie and all of her relatives?, it also answered the question How do we store enough DNA on all of the dogs so researchers will have it when they need it without having to mail me dozens of swabs in teeny envelopes?

I kept studying the database and wondering why there were only two Newfs submitted. When I asked other Newf people about it, most had no idea what the Repository is, and had, like me, never thought about its potential for the breed overall or to how it directly related to their own dogs.

A firm believer in never asking people to do something I’m not willing to do myself, I ordered kits for all of my dogs. This gave me the opportunity to learn more about the process and see where potential questions and pitfalls might be before asking others to do it.

The next step was a letter to everyone who had one of our dogs. Realizing how difficult it would be if there were 25 dogs in the database all named Bear, I encouraged owners to send in their AKC individual registrations if they had not already done so. I was amazed at two things: the number of people who had wanted an AKC-registrable dog who had never bothered to register, and how quickly people responded and not only ordered DNA kits but registered their dogs—many paying hefty late fees!

Courtesy Patti McDowell

The letter emphasized that every dog was important, that even if a dog has no health problems it might be related to another dog in a study someday, and that each sample increases the value of the others. It was also pointed out that though a dog may have no health problems today, it is always possible it might someday tragically develop a problem, perhaps a torn cruciate ligament, or bloat, or cancer. It seems far wiser to be proactive and have the DNA stored in advance of a potential illness or crisis situation.

When thinking proactively, we realized that there is no reason not to start at the very beginning: Why not store every puppy? We began filling out a form for each puppy buyer at the time of pick-up with the owners. The form required that the pup have a sample drawn and submitted at 16 weeks old. We also added a stipulation to our stud contract that offspring from our stud dogs must follow the same procedure.

One key component was our asking that the AKC papers be filled out at the time of pick-up. In this way, the pup has an AKC number and name for the CHIC DNA Repository, and there is no problem later with trying to get people to send in their paperwork, which they often can’t even find!. It’s much simpler to take care of all paperwork at the beginning.

Making It Work
Once the dogs began appearing in the database, it was time to start spreading the word. Obviously, this was not going to be a valuable resource for the whole breed if only one kennel was represented. We began numerous posts to online Newf bulletin boards and chat groups. We sent a letter to friends in the Newf community, describing the repository, explaining what we were doing, and encouraging others to do the same. We also discussed why we were requesting all of “our people” to submit blood samples, as opposed to the cheek swabs, and, in the case of new offspring, making it a contractual requirement.

Courtesy Patti McDowell

The Newfoundland Club of America (NCA) generated support and interest at its national specialty by providing a reduced-cost DNA clinic, an event that was completely booked. Articles are appearing in regional-club newsletters, complete with kit-request forms. A full article on DNA collection and storage will appear in our next issue of Newf Tide, the NCA’s quarterly magazine.

Newf owners were quick to embrace the first genetic test for our breed when the cystinuria test (cystinuria is an inherited autosomal recessive disorder characterized by the formation of cystine stones in the kidney, ureter, and bladder) was developed. The NCA was the driving force behind the test, providing education as well as a substantial rebate for the first three years. Thanks to the efforts of the NCA, and individual breeders and owners, it’s now possible to eliminate the chance of ever producing another Newf affected with this disease. With such a proven track record by owners in their enthusiastic support of research and testing, it’s no surprise that we rapidly went from only two Newfs in the Repository to over 100 in just a few months, with new additions seen every week.

As happened with cystinuria testing, particularly with the continued support of our parent club, when more people learn about DNA storage of blood samples, as they find out this is not the same as AKC DNA profiling (a common misconception), as they realize the potential for future research, the numbers will continue to grow by leaps and bounds.
DNA. Totally unique. Completely irreplaceable. One dog at a time. One owner at a time. One breeder at a time.

That’s the plan.

Patti McDowell’s Council Cup Newfoundlands have been top winners at important venues in the United States, Canada, and Europe since 1994. The Council Cup breeding program has produced several influential sires and dams.

  Ronald N. Rella, director, Breeder Services
Email: AKCbreeder@akc.org
Customer Service | Phone: 919-233-9767 | Email: info@akc.org

© The American Kennel Club 2007