Theo Ross, senior author of the study, said, "If a variant is reclassified to being pathogenic, then it matters to the patient. A large number of base pairs in each gene means there are myriad potential variations and there are many gaps in knowledge about the significance of individual variations. But knowledge about gene variants is constantly growing and evolving. Physicians need to be aware of how rapidly knowledge about gene variants is advancing and that re-classifications are common. Labs need to review gene variant information on a regular basis and alert physicians to changes.

Source: Economic Times September 26, 2018 13:18 UTC