Genetic testing to identify a specific gene alteration may be recommended for high-risk families. It is typically performed using a blood sample. Not all people who pursue cancer risk assessment decide to have genetic testing.
Like all tests, genetic testing has benefits and limitations and entails many practical, medical and emotional implications. The most information can be gained when a family member with cancer is tested first so the gene alteration can be identified. However, this may not always be possible.
Even if an individual at high risk is found to carry an altered gene, genetic testing cannot determine if cancer is present or when it may develop. It can only confirm an inherited predisposition for the disease.
Despite its limitations, genetic testing can be valuable. Results can help individuals make some medical decisions, such as determining the best plan for cancer screening or whether to pursue preventive medical or surgical therapies.