This test is for healthy individuals without a personal or strong family history of the conditions tested, and so Invitae will only report genetic variants when there is high confidence that they may significantly increase the risk of developing a disease. In these cases, Invitae classifies these variants as “pathogenic” or “likely pathogenic.” We may also report increased risk alleles in our reports.
Genetic changes with an uncertain clinical impact, called a variant of uncertain significance (VUS), are not reported, as these changes are not medically actionable. Over time, if the scientific and medical community identifies new evidence about how likely a particular VUS is to cause disease, a variant may change from VUS to likely pathogenic or pathogenic. If a VUS in a sample is reclassified to likely pathogenic or pathogenic, Invitae will notify the clinician and issue an updated report.
Discovering that an individual carries a pathogenic or likely pathogenic change in one of the genes on this panel indicates that he or she has a significantly elevated risk for the associated condition. However, a positive result does not mean that the individual will develop the disorder.
Receiving a negative result also provides important information. This result indicates that an individual has reduced risk for developing these conditions due to a genetic basis according to the genetic information revealed by testing these genes. However, it does not eliminate his or her risk, because other potential causes, such as an individual’s family health history, different genes or non-genetic factors such as diet or lifestyle, also affect personal risk and health outcomes.
Additionally, the presence of a genetic change that does not increase an individual’s own risk of developing a specific medical condition, but that may be passed within an individual’s family (also known as carrier status), may also be reported.
If your patient receives a positive test result, we offer family variant testing to their first-degree relatives at no additional charge within 90 days of the original patient’s test report. Unlike our diagnostic panels, we do not offer re-requisitions or panel customization with our proactive health tests.