Duplicate Checking for Genetic Tests

Effective Tuesday, September 14, 2010, a Best Practice Advisory warning in Epic will appear when there is an attempt to order certain genetic tests that have been previously ordered and resulted for a patient. An analysis of test ordering has found many cases where patients have had the same germ-line genetic test done more than once. Most commonly, this has occurred with the Factor V Leiden/Prothrombin ("FACTOR 5/FACTOR 2 PCR", Epic # LAB346) and hemochromatosis ("HEREDITARY HEMOCHROMATOSIS PCR", Epic # LAB2466) gene mutation analyses. In general, these genetic tests should not to be re-done as they are reflective of germ-line DNA that does not change throughout a patient's life.

The Best Practice Advisory will state "[Test name] is a genetic test that has been performed on this patient in the past. In general genetic testing should not need to be repeated. Please reconsider ordering this test."

There are two prompts that allow the orderer to either cancel the test or continue to order after providing an explanation for why the test needs to be done again. One of the few instances where this type of duplicate testing may be indicated is if a previous genetic result is thought to be in error. However, in this case, for quality control and patient safety purposes, it would generally be advisable to notify the laboratory that a genetic test result is being questioned as an incorrect genetic result can have long-lasting implications for the patient.

Please note that this warning does NOT apply to any somatic mutation analyses (e.g., tests on tumor mutations) or to cytogenetic tests, only to repeat orders of a test that characterize a germ-line genetic mutation.

Questions should be directed to Matthew Krasowski, MD, PhD, medical director of the Clinical Chemistry
(384-9380, matthew-krasowski@uiowa.edu).