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Getting a Handle on Genetic Tests

Utilization management around genetic testing is difficult because genetic diseases are rare and the testing is esoteric. Thus, they don't lend themselves to easy, blanket policies. In general genetic testing can and should be used to:
  • Diagnose disease
  • Predict the risk for future disease
  • Inform reproductive decision making
  • Manage patient care
Many tests can be considered genetic tests, including routine tests for infectious diseases. We can categorize genetic testing into eight categories:
  1. Diagnostic
  2. Predictive
  3. Phamacogenomic (tests that show how a patient will metabolize a particular drug)
  4. Prenatal (tests done on fetal DNA)
  5. Carrier
  6. Preimplantation (testing done on embryos)
  7. Newborn
  8. Research (not yet clinical, purely investigational)

When to Test
UM teams will need to develop strategies and policies around appropriate use of genetic testing. Some common policies that teams may want to endorse or enact include:
  • The patient must have a personal history of the specific condition (Medicare prohibits testing on asymptomatic individuals).
  • The patient must be expected to have at least a 10% likelihood of having the genetic anomaly for which the test is used.
  • The test meets criteria for clinical validity and/or is recommended by Evaluation of Genomic Application in Practice and Prevention (EGAPP) or comparable agency.
  • Genetic counseling must be initiated before the test is ordered.
  • The results of the test will impact health outcomes for the patient or patient's 1st-degree relative in at least one of the following ways:
    • Change in the treatment
    • Change in the patient's monitoring
    • Treatment decision by providing a prognosis