Standards and guidelines for canine clinical genetic testing laboratories

Abstract

This publication represents a proposed approach to quality standards and guidelines for canine clinical genetic testing laboratories. Currently, there are no guidelines for laboratories performing clinical testing on dogs. Thus, there is no consensus set of protocols that set the minimal standards of quality among these laboratories, potentially causing variable results between laboratories, inconsistencies in reporting, and the inability to share information that could impact testing among organizations. A minimal standard for quality in testing is needed as breeders use the information from genetic testing to make breeding choices and irreversible decisions regarding spay, neuter or euthanasia. Incorrect results can have significant impact on the health of the dogs being tested and on their subsequent progeny. Because of the potentially serious consequences of an incorrect result or incorrect interpretation, results should be reviewed by and reported by individuals who meet a minimum standard of qualifications. Quality guidelines for canine genetic testing laboratories should include not only the analytical phase, but also the preanalytical and postanalytical phases, as this document attempts to address.

Moving from information and collaboration to action: report from the 4th international dog health workshop, Windsor in May 2019

“…The group identified five major action areas to address via the HGTD and for each, a working group was identified to move the projects forward: Launch of the IPFD Expert Panel by which queries around individual tests and their application in breeds, as well as other technical and genetic counselling aspects could be addressed and shared with the public, will be further developed and beta-tested within 2019–20. Laboratory quality standards and technical proficiency were discussed with particular reference to self-assessment and reports [ 88 ], and a working group was established including both commercial and academic GTPs to take this forward. Proficiency testing is being explored in discussions with the International Society for Animal Genetics (ISAG); decisions made at the ISAG meeting in July 2019 are moving this forward.…”

“…Laboratory quality standards and technical proficiency were discussed with particular reference to self-assessment and reports [ 88 ], and a working group was established including both commercial and academic GTPs to take this forward.…”

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

“…When discussing commercially available genetic screening panels, it is important for practitioners to appreciate that these panels are not regulated and that no quality guidelines currently exist for how test results must be reported. 1 Because public demand for genetic testing of dogs continues to increase, creation of a specialty specifically devoted to veterinary genetics, genomics, and genetic counseling will likely prove necessary. However, until regulations and quality guidelines are universally adopted by genetic testing laboratories, including regulations and guidelines mandating that laboratories transparently report what the results of specific tests truly mean, owners will likely turn to general practitioners to interpret and explain the results they receive.…”