When people have certain types of health or developmental issues, it is possible that these issues are caused by changes in their genes. Genes are the instructions that tell the body how to grow and develop properly. Genes are found inside each cell of the body and are made of DNA. People get half of their genes from their biological mother and half from their biological father.
This NIH fact sheet provides basic background information on the genome and "Studying Genes."
Genetic Changes and Human Health
Though everyone’s DNA code is very similar, there will always be changes from person to person. We can find these changes by doing genetic testing. Sometimes, genetic tests will find changes in the DNA code have no effect on the gene’s ability to do its job. These types of changes are called “benign variants.” Benign variants do not have any affect on a person’s health or development. Other times, genetic tests will find changes in the DNA code of a gene cause them not to work properly. These types of changes are often called "pathogenic variants" or “mutations.” Pathogenic variants can cause certain health or developmental issues. Still other times, genetic tests will find changes that doctors and researchers have never seen before, or don’t know much about. This happens because we are still learning about our genetic code. These types of changes are often called “variants of uncertain significance,” because doctors are not sure if they might affect your health or not.
It is very important that clinicians and researchers are able to determine whether particular DNA changes are benign or pathogenic when trying to interpret the results of genetic testing. Interpreting a DNA change incorrectly can have serious implications for an individual’s health. For example, if a DNA change that is really pathogenic for a specific condition is called “benign,” a patient may not be referred for any preventative care that may be associated with that condition.
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.