How we choose what content to include

We rely on some basic guidelines to determine what information to include on the Genetics Home Reference website:

  • To include a specific condition, it must have a known or suspected genetic component. In most cases, this means the condition is associated with defined genetic variations, such as gene mutations or chromosomal changes.

  • To include a particular gene with a 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).