A person who has not had cancer may be falsely reassured by a negative test result unless a mutation has first been demonstrated in an affected family member. Finally, a person may be found to have a DNA alteration in the gene not previously reported and hence of uncertain significance. At the present time, DNA testing for a genetic susceptibility to cancer is expensive for the first family member tested. Once the mutation in the family has been identified, the cost of testing other family members is much lower. They are more likely to cover the cost if finding a mutation is likely and if it would alter patient management.
Some patients choose to pay for testing themselves in order to keep their testing confidential.
In a recent clinical trial of BRCA testing conducted by Rowley and Loader, members of 140 Rochester families came for pretest education and 87 proceeded to testing. Thirteen of these families were found to have a deleterious BRCA1 or BRCA2 mutation. These families are being followed to assess whether they benefited from testing. For questions or suggestions concerning the content of these pages, contact the URMC Webmaster .