Because this test is for healthy individuals without a strong family history of the conditions tested, 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.”
Pathogenic genetic changes are variants that have already been described in the scientific literature as having a known association with a particular health condition. Likely pathogenic variants are genetic changes that are expected to increase the risk of developing a certain disease.
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 guarantee that the individual will develop the disorder.
Receiving a negative result also provides important information. This result indicates that an individual has low genetic risk for developing these conditions according to the genetic information revealed by testing these panels. However, it does not eliminate his or her risk, because other potential causes, such as an individual’s family health history, different genes or nongenetic 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.