When customers contact us about the accuracy of genetic testing, we typically have to ask them to clarify their questions. The reason is that they could unknowingly be referring to two different aspects of dog genetic test accuracy that are very different. One version of the question relates to the level of accuracy in the genetic testing process, and the other relates to the accuracy in determining disease progression when the mutation is present. It is really important to understand that these two versions of the same question are very different and the answer can vary based on the mutation being tested. In essence, genetic tests are not always a test of disease status.
When talking about the level of accuracy of the genetic testing process, a company needs to be able to determine if the test accurately detects whether a specific genetic mutation is present or absent. This requires careful control of the entire testing process including how the sample is taken. When it comes to the at-home-testing industry in general, we can control and measure our accuracy from the time a sample reaches our laboratory but the one part of the process we cannot fully control is verifying sample collection. Any issues at this stage of testing can impact accuracy in unknown ways that make it nearly impossible to determine a true level of test accuracy. Here at GenSol, we are constantly improving both our laboratory processes as well as guiding customers to assist them in providing the best samples so we can continue to improve our overall level of test accuracy. For more detailed information see our accuracy blog, The True Meaning of Accuracy, and our blog on how customers are part of the testing process, Customers are Part of the Laboratory Team at GenSol.
Sometimes when customers contact us about test accuracy, they are referring to what is known as clinical validity which is how well the genetic mutation being analyzed is related to the presence, absence, or risk of a specific disease. This is a more complex question and the answer can vary between mutations and between breeds. Some mutations have a straightforward effect in that any dog within the affected breed that inherits the mutation is known to progress to the disease. An example of this type of mutation would be Neonatal Encephalopathy in Poodles. Other mutations are not as simple to predict disease progression due to either the genetic background or environmental factors. By genetic background, we are referring to the fact that different breeds may carry the same mutation but the rest of their DNA is different enough to prevent disease progression. An example of this type of mutation would be Degenerative Myelopathy. Many breeds test positive for this mutation but only certain breeds (German Shepherds, Boxers, Bernese Mountain Dogs, etc.) routinely succumb to the disease while other breeds that have the mutation never show symptoms. Environmental factors such as diet can also impact disease progression with Copper Toxicosis in Labrador Retrievers being an example.
We also often refer to the clinical utility of a dog genetic test, which describes whether the test can provide helpful information about the diagnosis, treatment, management, or prevention of a disease. This essentially means that the mere presence of the mutation is not enough to provide actionable information. It is important to know if the mutation has been shown through research and testing to lead to disease in the breed being tested. This is why at GenSol, we offer breed-specific recommended panels that have mutations both known to be found in the breed as well as scientific evidence that the mutation leads to disease. We believe that this is the best way to support better breeding and healthcare decisions based on the best available information. So, whether you have questions about the accuracy of our testing process or test validity for your breed, don’t hesitate to contact us. We’re here to help.