What to expect with whole-exome sequencing

Once we determine that whole-exome sequencing is an appropriate test, the medical team will request authorization to establish whether insurance will cover the test. Once authorization is completed, the provider (often a genetic counselor or a doctor who is experienced in genetic testing) will meet with the patient to discuss the test’s risks and benefits, explain the testing process and review the types of results they can expect. The patient’s blood will then be drawn to start the testing process. Blood samples from other family members, such as parents, may also help with interpreting the test.

Next steps

Whole-exome sequencing typically takes a few months. Once the test is complete, a written report of the results will become part of the patient’s electronic medical record, and the provider who ordered the test will follow up with the patient to discuss the results. If the test finds the genetic cause for the patient’s medical condition, that information could change how the medical team cares for the patient. It may also allow the patient’s family members to learn about the chances that the condition will affect them. If the test does not find the genetic cause of the patient’s medical condition, the care team can request reanalysis in the future.