Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines

Abstract

There is currently no oversight for canine clinical genetic testing laboratories. We published an initial set of standards and guidelines with the goal of providing a basis for which canine testing laboratories could evaluate their quality assurance programs. To further those standards and guidelines, we have developed a checklist that can be used as a self-evaluation to identify gaps in their programs for continual quality improvement over time. Because there is currently no organization willing to oversee an external proficiency program, the checklist provides the first step toward an internal, self-assessment that can be used periodically to monitor improvements. In addition, we attempt to address concerns from the canine community regarding rare or private mutations, genetic screening using array-based technologies, non-peer reviewed tests that are being offered, and the clinical validity of certain mutations in particular breeds. Through coordination, conversation and hard work, the canine genetic testing community can strive to organize to improve testing and to provide more transparency to consumers and better outcomes for dogs. Electronic supplementary material The online version of this article (10.1007/s00439-019-02013-9) contains supplementary material, which is available to authorized users.

Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs

“…The second way is for the individual laboratories to implement protocols that help ensure high-quality testing and for providing critical resources to the customer. In this issue of Human Genetics, standards and guidelines have been proposed to assist in guiding the industry as a whole towards common, achievable standards (Shaffer et al 2018) with a checklist that can be used for self-assessment and continual improvement within individual laboratories (Shaffer et al 2019). Both the standards and guidelines and the checklist form a baseline for testing standards, with the goal of bringing together the clinical laboratories to continue to discuss and improve these documents to provide consistency and high accuracy across the entire industry.…”

“…Both the standards and guidelines and the checklist form a baseline for testing standards, with the goal of bringing together the clinical laboratories to continue to discuss and improve these documents to provide consistency and high accuracy across the entire industry. These publications (Shaffer et al 2018(Shaffer et al , 2019 are open access, available to all laboratories , and should assist in providing a structure by which the laboratories can begin to develop or enhance their quality assurance programs under which new tests are developed, validated and launched.…”

Genome-wide association studies and genetic testing: understanding the science, success, and future of a rapidly developing field

“…To further complicate matters, even genetic tests for disease-causing mutations can have limitations, particularly when testing for diseases that have incomplete penetrance. For these reasons, the tests in commercially available genetic screening panels should only be considered screening tests, 24 and it is critical that any positive results for these tests be confirmed through additional clinical evaluation, as determined by the disease in question. Clinical signs, signalment, and history are also important considerations when interpreting the results of these screening tests.…”

“…Clinical signs, signalment, and history are also important considerations when interpreting the results of these screening tests. 24…”

“…Pet owners must understand that most of the tests included in commercially available genetic screening panels are only screening tests and that, for these tests, a negative result does not necessarily mean their pet is free from genetic disease and a positive result must be confirmed through other diagnostic testing before any particular action is considered. 24 Genetic screening tests provide an assessment of an individual's genotype, but are only reflective of disease risk. This is in contrast to diagnostic genetic tests, which are used to identify a specific genetic disease on the basis of an established disease-causing genotype and can be undertaken after a disease is suspected on the basis of clinical signs.…”