Once your medical team determines that whole-exome sequencing is an appropriate test, they will request authorization to establish whether insurance will cover the test. Once authorization is completed, the provider (often a genetic counselor or a doctor or nurse who is experienced in genetic testing) will meet with you to discuss the test’s risks and benefits. They will explain the testing process and review the types of results you can expect. Your blood sample will then be collected at one of the Stanford blood draw stations to start the testing process. Blood samples from other family members, such as parents, may also help with interpreting the test.
Whole-exome sequencing typically takes a few months. Once the test is complete, a written report of the results will become part of your electronic medical record and your doctor who ordered the test will follow up with you to discuss the results. If the test finds the genetic cause for your medical condition, that information could change how the medical team cares for you. The test may also provide beneficial information about the risk that the condition will affect other family members. If the test does not find the genetic cause of your medical condition, the clinical care team can request reanalysis in the future.