Clinical Genomics Program

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.

Genomic sequencing, including whole-exome sequencing, has been particularly successful in pediatric settings when a patient’s suspected genetic condition has eluded diagnosis. Many families with genetic diseases have benefited from the power of this technology and its ability to identify the underlying cause of their or their child’s condition.

If the initial analysis of your whole exome does not uncover a diagnosis, the test can be reanalyzed annually so that the patient’s sequencing data can be compared to newly discovered genetic variants. With reanalysis, we can continue to make diagnoses for years to come.

Stanford has a long history of expertise in genomic sequencing analysis and interpretation, as well as with clinical genetic testing. Stanford Health Care and Stanford Children’s Health are two of a small number of U.S. hospitals that offer clinical whole-exome sequencing in-house. By offering this testing in-house, the Stanford team that is responsible for interpreting the test will be in close communication with your care team. With such a complicated test, this communication is critical to ensure the test results are the most meaningful and accurate possible.