Genetic testing is offered when the patient’s personal and/or family history of cancer meets specific criteria. Genetic counselling is an important part of a decision to have genetic testing.
Genetic testing looks for an inherited change (mutation) in a gene that is known to increase the risk for specific types of cancer. It is usually done on a blood or saliva sample. Only about 5-10% of all cancers are linked to an inherited gene mutation.
The first (index) test in a family is usually most informative if offered to someone who has had cancer. Storage of a blood sample may be prudent for a person with uncertain health if s/he might be the best index for genetic testing in a family. For more information on the storage of blood samples, expand the "Urgent storage of a blood sample - when, why and how?" section above.
Most index genetic testing is currently done using a panel of hereditary cancer genes. The genetic counsellor will review which genes are being tested and the possible results.
If a hereditary cancer gene mutation is found, then a specific carrier test is available for family members. A carrier test looks only for the specific gene mutation that has been confirmed in a relative.
Hereditary cancer genetic testing is usually offered to adults. It is available to children if the results will change their medical care (see specific syndromes).