Genetic Testing

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The page below is a sample from the LabCE course Laboratory Effectiveness: Clinical Laboratory Utilization. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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Genetic Testing

Utilization management around genetic testing is such a large issue that it is worthy of its own separate topic. Some large health care organizations may even have a separate utilization management team specifically for genetic testing. Patients can easily access information on hundreds of diseases on the Internet and consequently, the requests for genetic testing have been increasing steadily. Estimates of U.S. annual spending on genetic testing and molecular diagnostics vary depending on the kinds of tests used to define the market but annual spending is now well over 5 billion dollars per year.
Testing for inherited diseases represents the largest portion of molecular and genetic testing. Next is molecular testing for infectious diseases, followed by testing genetic material in tumors (cancer). Notice the representative graph from a large health care organization. This graph shows a scenario in which genetic testing accounts for only a small fraction (7%) of the total send-out test volume, yet it takes up more than half of the send-out testing budget. This of course, is because the average cost of a genetic test is high (around $1200). If patient requests for genetic testing and doctor orders for these tests continue at the current pace, it does not seem sustainable.