Have you ever wondered what goes on in a genetic testing laboratory? What kinds of measures are taken to guarantee quality testing? For example, does the laboratory that you use have what is pictured - a clean room? What is a clean room and why should they have one? And why can’t you bring your dog directly to the laboratory for swabbing?
Paw Print Genetics has received a lot of questions about our testing quality and accuracy – and we love it! Ask away! We like to talk about our lab and the careful approach we take to testing to ensure that your results are reliable and accurate. Otherwise, what’s the point?
A genetic testing lab must have accurate and reliable results. They should have performed validation studies for each of the diseases and mutations that they offer. Does your testing lab provide you with the test’s sensitivity and specificity for the diseases you are concerned about? Have you asked for this?
During our validation studies, 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. Specificity requires that the right targets (genes, regions of the genome, or mutation sites) are being examined and that mutations are not identified in samples that are known to be normal or negative for the mutation in question. Sensitivity measures whether or not a sample with a known mutation was identified correctly. In other words, are we detecting the correct gene, and if so, are we detecting the mutations when present. You can discuss with your testing laboratory if they performed these rigorous validation studies before offering their tests.
Our laboratory also takes a human genetics approach to all of the disease testing that we perform. What does this mean? Well, in the human genetic testing world, if a laboratory is searching for a specific mutation, once that DNA sequence is identified, they must use a second, independent method to confirm the DNA sequence. Thus, for ALL of the diseases and mutations that we test for, each test is performed using two independent methods to ensure that your results are reliable and accurate. When you receive your test results, you can be confident that they accurately reflect your dog’s genotype and you can use that information to assist you in your breeding program, or if your dog is affected, this information can be discussed with your veterinarian and used to predict medical problems that your dog may develop in the future. Furthermore, both a PhD geneticist and a licensed veterinarian review all test results at Paw Print Genetics to ensure accurate interpretations and recommendations. Finally, Paw Print Genetics is the only canine genetic testing laboratory that has a Laboratory Director that is board certified by the American Board of Medical Genetics.
So what is a clean room and why should a laboratory have one? Almost all DNA testing methods require that additional copies of the dog’s DNA are made through a process of amplification. During this amplification process, there is a risk that the laboratory may become contaminated with DNA from other samples (other dogs). To ensure that contamination does not occur, DNA samples and the chemical reagents that go into the testing, are prepared in two separate clean rooms and then brought together for the actual test in a third, separate room. This process is the standard convention among human testing laboratories and required for accreditation, which allows the laboratory to perform and bill for the test. Paw Print Genetics built its laboratory with these human genetic testing standards in mind. These standards have been around for decades and were created to ensure the accuracy of results and to minimize possible contamination between samples. How else will you know that the results you receive on your dog are actually on YOUR dog? Does your canine genetic testing laboratory have clean rooms?
Speaking of contamination, this is why no dogs are allowed in our laboratory. I would love to be able to bring Trixie The Wiener Dog to work with me, but we do not want any chance of the laboratory becoming contaminated with DNA from another source. Every cell of our bodies, including our skin and hair cells, contains DNA. This is why some laboratories request blood, because white blood cells contain DNA (red blood cells typically do not). Paw Print Genetics exclusively uses cheek cells (skin cells), collected using a buccal or cheek swab the inside of the dog’s mouth. We use such small quantities of DNA in our novel methods that we do not need blood samples (that typically give more DNA than a laboratory would ever need to do a diagnostic test). So Trixie is not welcomed and not allowed to come to work with me because we want to make sure we are testing your dog’s DNA, and besides, I already know her genome because she participated in our validation studies.
Paw Print Genetics loves the interactions that we have with our clients. Ask us anything and we will be happy to answer questions about how we perform our tests, how we ensure accuracy and reliability, and how we can help you improve your breeding program, and more importantly, how we can help you improve the genetic health of your breed. We also welcome feedback on the information posted on our website as well as on your customer experiences if you have already used our services. Our desire is to provide you with the best testing experience possible. Please send your questions, comments, and suggestions to AskUs@pawprintgenetics.com.