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Reducing duplicate genetic testing across a safety-net hospital system

Genetic testing has increased significantly in the past two decades. Genetic tests tend to be costly, and inappropriate use can lead to misdiagnosis and patient harm. Furthermore, repeat genetic testing performed in error can cause financial stress and undue anxiety for patients awaiting results. Because patients’ germline genetics will not change during their lifetime and genetic tests have a high degree of sensitivity and specificity, duplicate testing is rarely indicated. However, it may be necessary if sample integrity is a concern, a limited panel of genetic tests is initially submitted, or mosaicism is suspected. But more often, repeat testing occurs because physicians are unable to readily review previous test results in the EHR. Duplicate genetic testing can be reduced by requiring a physician to obtain input from a genetic counselor before ordering genetic tests. However, this practice can be costly and resource intensive. An alternative approach is to provide electronic clinical decision support, which uses alerts to restrict duplicate orders. The authors conducted a study at a large safety-net hospital system as part of an effort to develop a systemwide EHR intervention to reduce wasteful duplicate genetic testing. They designed an EHR alert that would trigger when a clinician attempted to order any of 16 specified genetic tests for which there was a previous result in the EHR system. The authors measured the proportion of genetic tests that were duplicates and alerts per 1,000 tests. Data were then stratified by clinician type, specialty, and inpatient versus ambulatory settings. The authors found that the rate of duplicate genetic testing decreased from 2.35 percent (1,050 of 44,592 tests) to 0.09 percent (21 of 22,323 tests) (96 percent relative reduction [P<.001]). The alert rate per 1,000 tests varied between inpatient and ambulatory orders (277 and 64, respectively). Among clinician types, residents had the highest alert rate per 1,000 tests (166) and midwives the lowest (51) (P<.01). Among clinical specialties, internal medicine had the highest alert rate per 1,000 tests (245) and obstetrics and gynecology the lowest (56) (P<.01). The authors concluded that a low-effort, high-yield EHR intervention can reduce duplicate genetic testing. Future interventions targeting departments and clinician types with higher alert rates may further reduce those rates.

Manchego PA, Krouss M, Alaiev D, et al. Reducing duplicate genetic testing in inpatient and outpatient settings across a large safety-net system. Am J Clin Pathol. 2023;160:292–296.

Correspondence: Dr. Peter Alarcon Manchego at alarconp@nychhc.org