ABSTRACT
Background: Reduced costs and rapid turn-around times for next generation sequencing testing has resulted in an increase in genetic test utilization for hospital patients. Over the past several years, Duke University Health System has implemented vendor standardization and third party billing agreements with external reference laboratories for outpatients. While these efforts have resulted in a cost savings of approximately 9.6 million dollars annually, send-out expenses for genetic testing of hospital patients remains high. Currently, exome sequencing is the only genetic test that requires pre-approval by laboratory leadership prior to send-out on hospital patients. Purpose: To review the utility of inpatient genetic testing to determine if institutional guidelines and a review process are needed to ensure appropriate utilization. Method: In-patient genetic test orders were retrospectively reviewed to determine the clinical utility of tests ordered during hospital encounters from July 1, 2019 to June 30, 2020. Results: In total, 269 molecular tests were ordered during a hospital encounter in FY2020. The majority of these tests (223) were ordered in blood for germline testing with a minority (46) of tests ordered in tumor for somatic testing. In patients with a clinical suspicion of a Mendelian disorder, gene panels were ordered with the highest frequency (77%). Of the gene panels sent for testing, epilepsy-related gene panels were ordered most frequently with ∼50% of these requested with STAT turnaround. Exome sequencing was approved for send-out 15 times in FY2020 with 6 of these requested with STAT turnaround. Of the 6 STAT exomes, 3 resulted in a diagnosis for the patient, two were negative, and one was uncertain. In total, 70% of test results were received after patient discharge and the diagnostic yield was 15%. Of the results with a positive diagnosis, only 4% were received prior to discharge. Interestingly, 31% of orders were placed within 48 hours of patient discharge and multiple genetic tests were ordered on a single encounter in 7 patients. While the total send-out expense of germline genetic testing was calculated at ∼$585,000, we estimate that the quantity and expense of genetic tests in FY2020 may be lower than normal due to COVID-19 impact. Review of orders for somatic testing identified one physician where 96% of orders did not meet the 14-day rule, a Centers for Medicare and Medicaid Services laboratory date of service policy exception that allows molecular or genetic tests to be ordered on a surgical specimen and billed directly by the performing laboratory when the test is ordered 14 or more days post patient discharge. The physician has since been notified and informed of the 14-day rule and the requirements for send-out testing of molecular tests. Conclusion: Retrospective review of inpatient genetic testing revealed that gene panels, which do not currently require prior approval, are ordered with the highest frequency. Further review revealed that a majority of test results were received after patient discharge and subsequently not utilized for direct patient care during that encounter. As a result, laboratory leadership is working to implement test utilization strategies to improve patient care by developing metrics of appropriate and inappropriate utilization, as well as developing a systematic framework and infrastructure to track the use and clinical utility of genetic testing for inpatients.