Genetic Testing for BRCA1 and BRCA2, Part 2

by National Cancer Institute

(Page 2 of 3)

What are the options for a person who tests positive?

Several approaches are available for managing cancer risk in individuals with alterations in their BRCA1 or BRCA2 genes. However, limited data exist on the effectiveness of these approaches.

Surveillance — If cancer develops, it is important to detect it as soon as possible. Careful monitoring for symptoms of cancer may be able to catch the disease at an earlier stage. Surveillance methods for breast cancer may include mammography and a clinical breast exam. Some health professionals also recommend breast self-exams, but this surveillance method should not be used in place of clinical exams. Studies are currently being conducted to test the effectiveness of other breast cancer screening methods in women with an altered BRCA1 or BRCA2 gene. With careful surveillance, many cancers will be diagnosed early enough to be successfully treated.

For ovarian cancer, surveillance methods may include transvaginal ultrasound, CA-125 blood testing, and clinical exams. Surveillance can sometimes find cancer at an early stage, but it is uncertain whether these methods can reduce a person's chance of dying from ovarian cancer.

Prophylactic Surgery — This type of surgery involves removing as much of the at-risk tissue as possible in order to reduce the chance of developing cancer. Preventive mastectomy (removal of healthy breasts) and preventive salpingo-oophorectomy (removal of healthy fallopian tubes and ovaries) do not, however, offer a guarantee against developing these cancers. Because not all at-risk tissue can be removed by these procedures, some women have developed breast cancer, ovarian cancer, or primary peritoneal carcinomatosis (a type of cancer similar to ovarian cancer) even after prophylactic surgery.

Risk Avoidance — Behaviors that may decrease breast cancer risk include exercising regularly and limiting alcohol consumption. Research results on the benefits of these behaviors are based on studies in the general population; the effects of these actions in people with BRCA1 or BRCA2 alterations are not yet known.

Chemoprevention — This approach involves the use of natural or synthetic substances to reduce the risk of developing cancer, or to reduce the chance that cancer will come back. For example, the NCI-supported Breast Cancer Prevention Trial found that the drug tamoxifen reduced the risk of invasive breast cancer by 49 percent in women at increased risk for developing the disease. Few studies have been performed to test the effectiveness of tamoxifen in women with a BRCA1 or BRCA2 alteration. One study found that tamoxifen reduced the incidence of breast cancer by 62 percent in women with alterations in BRCA2. However, the results showed no reduction in breast cancer incidence with tamoxifen use among women with BRCA1 alterations. Additional chemoprevention studies with tamoxifen and other substances in women with an altered BRCA1 or BRCA2 gene are anticipated.

Gene Therapy — At present, altered BRCA1 and BRCA2 genes cannot be repaired. Some day it may be possible to fix or manipulate the genes or sets of genes that increase one's risk of cancer.

What are some of the benefits of genetic testing for breast and ovarian cancer risk?

There can be benefits to genetic testing, whether a person receives a positive or a negative result. The potential benefits of a negative result include a sense of relief and elimination of the need for special preventive checkups, tests, or surgeries. A positive test result can bring relief from uncertainty and allow people to make informed decisions about their future, including taking steps to reduce cancer risk. In addition, many people are able to participate in medical research that may, in the long run, decrease the risk of death from breast cancer.

What are some of the risks of genetic testing for breast and ovarian cancer risk?

The direct medical risks of genetic testing are very small, but test results may have an impact on a person's emotions, social relationships, finances, and medical choices. People who receive a positive test result may feel anxious, depressed, or angry. They may choose to undergo preventive measures that have serious long-term implications and whose effectiveness is uncertain. People who receive a negative test result may experience "survivor guilt" caused by avoiding a disease that affects a loved one. They may also be falsely reassured that they have no chance of developing cancer, even though people with a negative test result have the same cancer risk as the general population. Because genetic testing can reveal information about more than one family member, the emotions caused by test results can create tension within families. Test results can also affect personal choices, such as marriage and childbearing. Issues surrounding the privacy and confidentiality of genetic test results are additional potential risks (see below).

What can happen when genetic test results are placed in medical records?

Clinical test results are normally included in a person's medical records, and the inclusion of genetic test results in a patient's records may have serious implications. For example, when applying for medical, life, or disability insurance, people may be asked to sign forms that give the insurance company permission to access their medical records. The insurance company may take genetic test results into account when making decisions about coverage. An employer may also have the right to look at an employee's medical records. Individuals considering genetic testing must understand that when test results are placed in their medical records, the results might not be kept private.

Some physicians keep test results out of medical records. However, even if genetic test results are not included in a person's medical records, there may still be some risk of discrimination. Information about a person's genetic profile can sometimes be gathered from that person's family medical history.

What is genetic discrimination, and what laws protect people from this type of discrimination?

Genetic discrimination occurs when people are treated differently by their insurance company or employer because they have a gene alteration that increases their risk of a disease, such as cancer. People who undergo genetic testing to find out whether they have an alteration in their BRCA1 or BRCA2 gene may be at risk for genetic discrimination.

A positive genetic test result may affect a person's insurance coverage, particularly their health insurance. A person with a positive result may be denied coverage for medical expenses related to their genetic condition, dropped from their current health plan, or unable to qualify for new insurance. Some insurers view the affected individual as a potential cancer patient whose medical treatment would be costly to the insurance company.

The Health Insurance Portability and Accountability Act (HIPAA) of 1996 provides some protection for people who have employer-based health insurance. The Act prohibits group health plans from using genetic information as a basis for denying coverage if a person does not currently have a disease. However, the Act does not prohibit employers from refusing to offer health coverage as part of their benefits, or prevent insurance companies from requesting genetic information.

In 2000, the Department of Health and Human Services released the HIPAA National Standards to Protect Patients' Personal Medical Records. This regulation covers medical records maintained by health care providers, health plans, and health care clearinghouses. Although the standards are not specific to genetic information, they provide the first comprehensive Federal protection for the privacy of health information.

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