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Ovarian Colorado

Information for Patients

Genetic Testing

It is estimated that humans have approximately 30,000 genes, which control or influence many physical characteristics such as eye color, hair color, skin tone, etc. Genes are passed down from generation to generation. Each person inherits half of his genetic makeup from his mother and half from his father. By studying families that are prone to cancer, some altered genes, called mutations, have been discovered that greatly increase the chance that cancer will develop. In particular, mutations in two large genes called BRCA1 and BRCA2 have been linked to risk for breast and ovarian cancer.

When a mutation is identified in a person with cancer, then each of her children has a 50/50 chance of carrying the gene that increases cancer risk. If a son or daughter carries the altered gene, he or she is at increased lifetime risk for cancer, but it does not mean that cancer will definitely occur. It does mean that the chance is much higher compared to a person who does not carry the mutation. Some “at-risk” individuals would want to know if they inherited the abnormal gene and what they can do to minimize their risk of getting cancer.

If there is a strong family history of certain cancers, genetic testing might be available. For example, when several members of the family have had breast or ovarian cancer, a test for the BRCA mutations might be considered.

The Genetic Testing Process

There are several steps involved in genetic testing of unaffected individuals for hereditary cancer susceptibility.

First Visit: Information Session
Meet with a genetic counselor to review the family history and get an estimate of the individual’s risk for developing cancer. It may be necessary to obtain medical records on the family members with cancer in order to provide accurate information. Some individuals are surprised to learn that their risk is lower than they thought. At this time the pros and cons of testing are explored, and questions are answered. Be prepared to provide as much specific information as possible.

Second Visit: Blood Drawn
Usually, the person considering testing will take some time to think through the information that was presented, and to decide whether she wishes to proceed with testing. If she decides to go ahead, a blood sample is drawn and sent for genetic testing. This test looks for the presence of specific mutations that have been identified in other family members or that are more common in familial breast and ovarian cancer.

Third Visit: Getting Results and Interpreting Them
Testing the blood sample typically requires several weeks. The results are discussed in person. If she inherited the mutation, she may be referred to a specialist to discuss options to minimize her risk. If she did not inherit the mutation that is known to be in the family, then she is not at any higher risk to develop cancer than the risk that any woman faces. In other words, she still has some risk for breast or ovarian cancer, but it is not substantially higher for her compared to other women. In some cases, a genetic change is identified, but the significance of this change is unknown.

Follow-up
The decision to be tested can be a very emotional experience, regardless of the results. For this reason, follow-up visits to discuss one’s reactions to the results and to review the information is helpful. This may be the time to consider how to share the information with other relatives who may benefit from knowing if they are also at risk.

Insurance
Some insurances will cover the costs of genetic testing and some will not. It is important to investigate whether your insurance will cover these costs prior to any counseling sessions or testing.

Note of Caution:

It is extremely important to test a family member with cancer first, so that the results are meaningful in the rest of the family. While many familial cases of breast and ovarian cancer are linked to BRCA1 and BRCA2, not all are. Suppose a woman has a history of ovarian cancer at an early age. If she herself tests negative for BRCA1 and 2, then it will not be helpful to test other family members.