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About Genetic Conditions

Many conditions and diseases have a genetic link

Many conditions and diseases are caused by a genetic mutation (sometimes called a variant), which is a change or alteration in a gene. If you have a specific mutation, you may have an increased risk of inheriting a certain type of disease. Examples of inherited conditions include Huntington’s disease, hemophilia, cystic fibrosis and sickle cell disease. In those cases, you may have the condition or be a carrier of the mutation. If you are a carrier you don’t show signs of the condition but you may pass the same mutation on to your children. If you and your reproductive partner carry the same mutation, your children could get the disease.

Sometimes that one mutation by itself is not enough to cause disease. The genetic mutation combined with other factors, such as other genes, and environmental factors (i.e., where you live, lifestyle, diet and exercise, etc.), act together to cause disease. Some examples of diseases with both genetic and environmental factors are certain types of cardiovascular disease, cancer and most cases of Alzheimer’s disease. In these cases, inheriting a genetic mutation for one of these diseases or conditions means you are at higher risk, but doesn’t mean that you will get it.

It’s also important to know that certain types of genetic conditions, such as cancer, are not always inherited from a family member and can be caused by genetic mutations that occur randomly or due to other factors (such as exposure to a toxin or drug) in patients who don’t have any inherited risk.

Genetic testing is available for some of these conditions and diseases, but not all.

A genetic counselor can shed light on how a genetic condition may or may not affect you or your family, as well as explain what testing could tell you. 

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