On April 30th, you will be able to order genetic testing for your dogs from Paw Print GeneticsTM. Before we could open our doors for clinical testing, we had a lot of work to do, work that involved my entire family and our extraordinary staff. We had to build an entire laboratory from the ground up. Part of that process was validating our tests, which, as I’ll explain, is an important and necessary step – and one that involved many of you.
After more than 20 years of working in human genetic diagnostic testing, I decided to use these skills to improve genetic testing for inherited canine diseases. We are so grateful for the support of the community of dog owners and breeders who participated in our validation studies from December 2012 through March 2013. As unknowns in this industry, we appreciate your trust that we were doing the right thing with your dog’s DNA.
We set up our laboratory, designed our tests and conducted our validation as if Paw Print Genetics were a human diagnostic laboratory. This means that we have all of the validation documentation that would be required if we were regulated by the Federal Government through the requirements of CLIA’88. Although canine genetic testing laboratories currently do not have any oversight, we function every day as if we were highly regulated so as to insure best practices for our testing. In doing so, we treat each sample with the highest level of safety and testing quality found in the canine genetics testing industry.
Some of you might wonder: what does it mean to do test validation? What are we measuring when we perform our test validations? And, those are good questions.
First, we developed a validation plan and determined a role for each of our scientists to verify that we were carrying out our plan. Second, we assessed eight performance criteria for each test: accuracy, precision, analytical specificity, analytical sensitivity, detection limits, reportable ranges, reference intervals and robustness. For example, accuracy refers to getting the right results; whereas, precision refers to the ability to repeat an experiment and get the same results as before. Specificity requires that the right targets (genes or mutations) are identified and sensitivity measures that if a sample has a mutation, the mutation was identified correctly. In other words, are we detecting the correct gene, and if so, are we detecting the mutations when present.
Test validation is a lot of work! But in the end, it must be done and must be done correctly to insure that the laboratory is providing the service they claim to provide. We conducted validation tests using the DNA collected from the cells of cheek swabs from 244 dogs from 115 different breeds. Most of these samples were collected through the Lilac City Dog Training Club in Spokane, Wash or from the Rose City Classic Dog Show in Portland, Ore. Each sample was tested for 103 different mutations in 84 distinct genes representing 87 unique genetic diseases, resulting in 45,822 tests performed! But wait, each was performed at least twice (remember the precision measurement), for more than 100,000 tests in just a few short months!
In the end, based on the measurements discussed above, we have decided to launch 86 tests for 86 mutations found in 73 different genes for 70 diseases. You may wonder, what happened to the other tests that didn’t pass the validation? The answer is: we will continue to work on those until they perform to our specifications. We will not launch a test until it meets or beats all eight performance criteria. When a test is ready to launch, we will announce it on our website, through our Facebook page and in our newsletter.
If you are wondering about the results of the validation, in the 244 dogs we found 118 mutations. Of these, 99 dogs were found to be carriers; these dogs are clinically normal but if bred with another carrier, can pass on the disease to their puppies. Among the 99 carriers, 15 were carriers for two different mutations in two different diseases. This is an important point and the reason that Paw Print Genetics offers the panel approach to testing – dogs can be carriers for more than one mutation putting their puppies at risk for more than one genetic disease.
Often times, breeders and dog owners do not know what diseases their dogs may carry. There are many reasons for this but the main one is that until now, breeders did not test for everything available; they only tested for diseases or mutations known to be in their lines. With the panel approach to testing, panels of genes can be screened in specific breeds and genotypes for all of these disease-causing mutations can be constructed with the help of our genetic counselors. With this information, breeders can then be ‘match makers’ for their dogs and select mates that in combination with their dog’s genetics, will avoid producing affected offspring.
Among these carriers, we identified mutations in certain breeds that had not been previously described. These included multifocal retinopathy1 in a French bulldog, primary lens luxation in a border collie, and alopecia in an Australian cattle dog, greyhound, petit basset griffon vendeen and toy poodle. We are thrilled that we are already identifying novel findings and contributing to the improved genetic health of even more canines!
Finally, in addition to these carriers, we had 19 dogs that were predicted to be affected with genetic diseases based on the results of their genetic testing. This information is important for the owners to know for anticipating future medical problems and being proactive with their dog’s health. In each of our reports, we provided the testing results, interpretation of the results and recommendations for the owners. Comprehensive reports with interpretations and recommendations are important so that the owners can follow up on these critical findings with their veterinarians.
To find out more about the genetic tests offered by Paw Print Genetics, please visit our tests page. If you have any questions about our validation studies or if you participated but did not receive your results, please Contact Us at any time.