Each clinical laboratory must have a laboratory director, technical supervisor or medical director on site in the facility who oversees the clinical work, supervises test development and validation, reviews clinical data and signs out the reports. The laboratory director and/or technical supervisor must have an appropriate doctoral degree (PhD, DVM or equivalent) and at least 2 years of training in a clinical genetics laboratory. Medical directors should have their doctorate in veterinary medicine (DVM) and appropriate licenses. Clinical laboratory technologists or technicians must hold an undergraduate degree in a relevant scientific field.
The laboratory has both a laboratory director (or technical supervisor) and a medical director on site. The laboratory director and/or technical supervisor has their certification in a relevant field. Examples include, but are not limited to, the American Board of Medical Genetics and Genomics, The Canadian College of Medical Geneticists, the American Board of Pathology or the American Board of Clinical Chemistry. Medical directors and laboratory directors and/or technical supervisors with a DVM have performed their residency and are certified in a subspecialty within veterinary medicine. Examples of board certification bodies include the American Veterinary Medical Association American Board of Veterinary Specialties or the European Board of Veterinary Specialists. Clinical laboratory technologists or technicians, in addition to having an undergraduate degree in a relevant scientific field, should have at least 5 years of relevant laboratory experience.
Laboratory space, equipment and facilities are sufficient to ensure safe, accurate and acceptable standards of performance. All laboratory equipment (including temperature-dependent equipment) is maintained, cleaned and monitored at appropriate intervals. Records of such maintenance are recorded and kept. Standard operating procedures (SOPs) should be in place for sample handling and for minimizing contamination. A significant source of contamination within laboratories can come from amplified products after PCR. Laboratory areas should be designated and physically separated for reagent preparation, sample preparation, and PCR amplification/detection. Separate rooms should be designated for pre-PCR and post-PCR workspaces with appropriate air handling and dedicated equipment. Workflow should ensure unidirectional flow from pre-PCR to post-PCR areas to reduce the possibility of sample contamination.
A quality manual should be developed and maintained for all laboratory processes and is reviewed annually by all staff and the laboratory director. This manual includes protocols and work instructions for all aspects of the testing process including assay development and validation, specimen handling, receipt and storage, all testing procedures, and data review and reporting. The laboratory has a documented quality management system that includes quality control (QC), quality assurance (QA), quality improvement (QI) and corrective and preventative action (CAPA) plans to assure that all reagents, equipment, methodologies, and personnel operate at optimum levels. These plans must be reviewed annually by the laboratory and/or medical director. In addition, laboratories developing in-house tests must have a development plan, validation plan and SOP for releasing new tests. The development and validation plans may be modified as the test is being developed and validated. The SOP for each test should be reviewed annually and modified if standard practices have deviated from the plan. At a minimum, results of concern or disputed by the customer must be investigated and repeat testing or other actions to confirm the original results when warranted.
The results from genetic testing are often used by breeders and veterinarians to make decisions regarding spay, neuter and euthanasia. As such, laboratories should desire the highest accuracy possible. In the absence of an external proficiency program, implementation of a method-based proficiency testing (Schrijver et al. 2014) protocol for each mutation region is the desired standard within a laboratory. This standard requires the use of two independent methods with non-overlapping primers, when possible depending on the genomics region, between the two assays to minimize allele dropout due to unforeseen polymorphisms in individual samples (Ramirez et al. 2017, 2018). If two different methods are not possible, the laboratory must ensure that the two primer sets used in PCR do not contain significant sequence overlap. Results from the two assays are compared and if the genotypes are the same between the two assays, results are reported. If the genotypes are discordant, a third assay is implemented, or a new sample is obtained to repeat the testing. In addition to the minimum standards, the laboratory has a quality committee that regularly meets to review the quality metrics being measured for the laboratory as well as adverse events and non-conforming products, laboratory errors, customer complaints, quality improvement reports, and corrective or preventative actions due to issues identified by the routine quality assurance and quality control practices. The committee also ensures that laboratory staff are properly trained and that the training is documented as part of the overall quality system. Finally, the quality committee performs routine internal audits of the laboratory to ensure that the established quality system is being followed.
In addition to the minimum standard, laboratory results are released to third parties only after proper written authorization by the owner, breeder or veterinarian.