Abstracts

Rationale: Genetic knowledge and testing technology has advanced considerably over the past several years, resulting in significant growth of the commercial genetic testing industry, as well as expansion and improvement of test offerings. Next generation sequencing (NGS) panels have been particularly useful in identifying genetic diagnoses in patients with non-specific clinical findings by allowing for analysis of several distinct genes at once. The available panels for any given phenotype can be quite diverse, with considerable variation of panels between different laboratories. Determining which test to order in the ever changing landscape of genetic testing can be challenging and time consuming, which may result in stagnation of genetic testing within an institution. Failure to remain up-to-date with regards to genetic testing can lead to outdated testing that may require repeating with new methodologies, thereby lengthening the diagnostic odyssey, delaying access to treatment, increasing cost to the institution, and decreasing patient satisfaction. Methods: A quantitative review was performed for eleven large, commonly used CLIA certified clinical laboratories across the country offering one or more epilepsy genetic testing panels. Information was collected through laboratory websites, as well as through direct communication with client services representatives, genetic counselors, and/or clinical specialists at each lab. Laboratories were ranked on a 4 point scale based on cost, turnaround time, depth of coverage, availability of both sequencing and deletion/duplication analysis, and parental testing policies for variant clarification. While there are important qualitative factors that should also be taken into account when choosing a particular lab or test, this primarily quantitative approach serves as a useful and unbiased starting point in evaluating and exploring send-out laboratories. Results: Using this approach, we were able to identify which clinical laboratories surpassed the others in regard to epilepsy genetic testing panels, based on the five aforementioned quantitative measures. We found that one lab received the highest possible ranking in every category, that another lab frequently utilized in our department for other genetic testing panels was ranked lowest overall, and that our current preferred lab was out-performed in multiple areas. These quantitative rankings have proven useful in narrowing down which labs we will utilize moving forward, and have also helped us to provide objective feedback to labs hoping to improve their test offerings. Conclusions: Increasing provider awareness of the available testing options for genetic forms of epilepsy will allow for more appropriate utilization of hospital resources, increased diagnostic yield, and improved patient care. Genetic counselors have expertise in navigating testing panels, and can serve as invaluable resources to the institutions they work in by reviewing the available panels in their area of specialization, and by keeping providers informed and up-to-date regarding genetic testing options. Funding: N/A