The results may help to diagnose a disease, find genetic differences that have caused your already diagnosed disease or find genetic differences that may increase your risk for getting a disease. Genetic tests can be divided into different types. Diagnostic testing is used to precisely identify the disease that is making a person ill. The results of a diagnostic test may help you make choices about how to treat or manage your health. Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a person’s likelihood of developing diseases. The results of these tests provide you with information about your risk of developing a specific disease. Such information may be useful in decisions about your lifestyle and healthcare.

Carrier testing is used to find people who “carry” a change in a gene that is linked to disease. Carriers may show no signs of the disease; however, they have the ability to pass on the gene change to their children, who may develop the disease or become carriers themselves. Some diseases require a gene change to be inherited from both parents for the disease to occur. This type of testing usually is offered to people who have a family history of a specific inherited disease or who belong to certain ethnic groups that have a higher risk of specific inherited diseases. Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases. For this kind of testing amniotic fluid that is around the baby during pregnancy is obtained via a procedure called amniocentesis. The most frequent reasons for genetic testing are:

• Having a family history of an inherited disease, such as muscular dystrophy or sickle cell anemia
• Having a history in your family of cancer, particularly breast or colon cancer (some of them are hereditary)
• Having parents, brothers or sisters or other relatives who have developed common diseases, such as heart disease or Parkinson’s disease, before they were 50 years old
• Thinking of having a baby and you or your partner have a family history of an inherited disease, or if either of you belongs to an ethnic group with an increased risk of certain genetic diseases

If you’re affected by one of the above standing conditions, we can probably help answering your questions by our partnering Human Genetics Institute.