What criteria are used by Genetics Home Reference to include or exclude certain information about a particular genetic disorder?
As new data emerge from genetics research, Genetics Home Reference staff relies on some basic guidelines to determine what information to include on the web site: • To include a specific genetic condition, it must be associated with defined genetic variations such as gene mutations or chromosomal changes. • To include a particular gene with a genetic condition, genetic variations must have been identified in two or more unrelated individuals or families. • In most cases, data must be available from human studies whose results have been confirmed by other research (replicated). Research findings are usually excluded if they come from studies done only with animals or with populations of human cells that have been maintained artificially for long periods of time (cell lines).
