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Genetic Mutation Testing

Why is genetic mutation testing important?

  • ­Mutation testing identifies the type of mutation associated with a GIST cancer
  • ­It is ESSENTIAL to know the mutation type in order to optimize GIST treatment
  • ­Mutation identification may also have prognostic value
  • ­Mutation testing is the standard of care as defined by NCCN and ESMO, but is still underutilized, so patients need to self-advocate for this test
  • ­In a recently study from the US, less than 50% of patients receiving tyrosine kinase inhibitor (TKI) for GIST had mutation testing
  • ­Of the patients who received testing, the results of the test led to a decision to change the TKI in 32% of patients and discontinue treatment in 9% of patients

How is the test done?

  • ­A tissue sample from biopsy/surgery is to the lab for testing

How and where can a patient get the test?

  • ­Discuss this test with your oncologist. Some centers automatically send tissue samples for genetic testing. If this has not been done, ask if you can have the test done.

How much does it cost?

  • ­The cost of the test is covered by public health insurance in Canada

What if my physician doesn’t think that this test is needed?

  • This test is important for optimizing care and should be carried out if possible. Please contact us for assistance.