FAQs: Clinical Interpretation and Reporting

Answers for patients about clinical interpretation and reporting

Discussing genetic information with family members is a personal decision, though sharing this information is often encouraged for at-risk family members. By providing family members with information, you enable them to make informed and educated decisions about their health. There is no one-size-fits-all for having this discussion with family members, and some individuals may not feel comfortable sharing this information. Many genetic counselors and providers can offer advice and help in facilitating this discussion. They may even have a “family letter” that can be used to send this information to your family members. If you are wondering how to best approach this discussion with your family, we would recommend that you discuss this with your provider and/or genetic counselor.

All test results include information about the patient such as name and date of birth, how the test was performed, and the test results. Depending on the type of test you have, results may indicate a variant that is the cause of the disease or symptoms you or your child have. Some results may indicate a variant of unknown significance called a VUS, which may or may not be associated with the disease. It is also important to understand that genetic tests may have limitations in detecting specific types of variants, so it is best to consult with your physician about the testing you are undergoing.

Variants of uncertain significance (VUS) are genomic variants that are possibly related to the patient’s symptoms, but the clinical significance of the variant is unclear at the time of testing. We encourage the ordering provider to include all relevant information about the patient’s symptoms and results of any prior testing when placing a test order. If any additional testing is performed after receiving a VUS result, we encourage the ordering provider to share that information with us, as it may help us determine whether the VUS is the cause of a disease or symptoms. In some cases, testing the patient’s parents or other family members may help us understand if the VUS causes disease and this testing may be offered free-of-charge.