A genetic risk assessment begins with a review of your family history. We ask about each of your relatives. We will ask about risk factors (such as smoking for heart disease or emphysema). We may also need to check medical records or death certificates for some family members to confirm a diagnosis. Then we build a detailed family tree, called a pedigree.
The next step is estimate your risk of developing a particular condition(s) based on your personal risk factors and your family history. If a disease runs in your family, there is often more than one possible explanation. Genetic testing can help pinpoint the genetic cause of disease in the family.
For example, there are at least six different causes for an inherited risk of breast cancer, and mutations in different genes lead to the genetic susceptibility of each. If a gene mutation is found, this may mean higher risks for breast cancer and other cancers or related conditions for those family members who carry the mutation. There would be no increased risk for those family members who do not carry the mutation.