Key Genetic Tests Provide the Standard of Care for Patients

lab technicians performing genetic testing

Humana’s Genetic Guidance Program (GGP) is dedicated to staying abreast of the changes in genetic testing. Previous articles in Humana’s YourPractice (here, see page 4) discussed how the GGP provides guidance and assistance to health care providers who are faced with an increasing number of genetic tests.

Genetic testing is now the standard of care for some conditions for which a test can help determine whether a patient is a good candidate for treatment with specific drugs or chemotherapeutic agents. It also can be used to monitor the impact of treatment to confirm that it is benefiting the patient. Internal analysis of Humana claims and independent research show that some of these standard-of-care genetic tests are not being utilized as recommended. To further Humana’s mission to provide the right care to the right patient at the right time, Humana encourages physicians to consider the following underutilized tests for their patients:

  • BCR-ABL1 genetic test: The BCR-ABL1 gene (also known as BCR-ABL) is an abnormal fusion of two genes (BCR and ABL1) that are normally not joined together. This fusion stems from a reciprocal translocation between chromosomes 9 and 22, or the exchange of a segment of chromosome 9 with a segment of chromosome 22, which results in an abnormal BCR-ABL1 gene located on chromosome 22. The new, abnormal chromosome 22 is referred to as the Philadelphia chromosome. Most patients with chronic myelogenous leukemia (CML) and some patients with acute lymphoblastic leukemia (ALL) have the BCR-ABL1 gene, and this test identifies which patients have it.

    Standard CML treatment is tyrosine kinase inhibitor (TKI) therapy, including imatinib mesylate (Gleevec®), dasatinib (Sprycel®), bosutinib (Bosulif®) and nilotinib (Tasigna®). TKIs inhibit protein activation to suppress cancer growth.

    Physicians use BCR-ABL1 testing to help diagnose, establish a baseline and monitor drug treatment response for patients with CML and ALL. Unlike most genetic tests, BCR-ABL1 testing is usually performed more than once in a lifetime. One study showed that only 60 percent of patients with CML had BCR-ABL1 testing once during an 18-month period, and only 14 percent received testing during consecutive quarters. The National Comprehensive Cancer Network (NCCN®) recommends that follow-up testing should be done every six months for the first two to three years after remission is established and yearly thereafter.

  • EGFR and ALK pharmacogenomic tests: Mutations in the epidermal growth factor receptor (EGFR) gene are associated with lung cancer. A rearrangement of chromosome 2 can lead to a fusion of the anaplastic lymphoma kinase (ALK) gene with another gene called EML4; this rearrangement also is associated with lung cancer. In patients with metastatic nonsmall cell lung cancer (NSCLC), tumor samples can be tested to detect the ALK rearrangement and mutations in EGFR to predict treatment response to TKIs.

    These tests help determine if a patient is a good candidate for treatment with erlotinib (Tarceva®), gefitinib (Iressa®) or afatinib (Gilotrif®) based on the EGFR test result, or with crizotinib (Xalkori) based on the ALK test result. Humana’s internal analysis comparing data from genetic test preauthorization requests and drug claims suggests that EGFR and ALK tests are not performed as often as they should be.

To submit a genetic testing preauthorization request, contact Humana at 1-800-523-0023 or log into Humana's secure provider website at or (registration required).