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

The direct medical risks, or harms, of genetic testing are very small, but test results may have an effect 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, such as prophylactic surgery, that have serious long-term implications and whose effectiveness is uncertain.

People who receive a negative test result may experience “survivor guilt,” caused by the knowledge that they likely do not have an increased risk of developing a disease that affects one or more loved ones.

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).

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

Clinical test results are normally included in a person’s medical records. Consequently, individuals considering genetic testing must understand that their results might not be kept private.

Because a person’s genetic information is considered health information, it is covered by the Privacy Rule of the Health Information Portability and Accountability Act (HIPAA) of 1996 (21). The Privacy Rule requires that health care providers and others protect the privacy of health information, sets boundaries on the use and release of health records, and empowers individuals to control certain uses and disclosures of their health-related information. Many states also have laws to protect the privacy and limit the release of genetic and other health information.

In 2008, the Genetic Information Nondiscrimination Act (GINA) became Federal law (see Question 15). GINA prohibits discrimination based on genetic information in relation to health insurance and employment, but the law does not cover life insurance, disability insurance, and long-term care insurance. When applying for these types of insurance, people may be asked to sign forms that give an insurance company permission to access their medical records. The insurance company may take genetic test results into account when making decisions about coverage.

Some physicians keep genetic test results out of medical records. However, even if such results are not included in a person’s medical records, information about a person’s genetic profile can sometimes be gathered from that person’s family medical history.

15. What is genetic discrimination, and are there laws to protect people from this type of discrimination?

Genetic discrimination occurs when people are treated differently by insurance companies or employers because they have a gene mutation that increases their risk of a disease, such as cancer. However, in 2008, GINA was enacted to protect U.S. citizens against discrimination based on their genetic information in relation to health insurance and employment (22, 23). The parts of the law relating to health insurers will take effect between May 2009 and May 2010, and those relating to employers will take effect by November 2009. The law does not cover life insurance, disability insurance, and long-term care insurance. In addition, the law does not cover members of the military.

Some of the protections under GINA with regard to health insurance include the following:

• Premiums or contributions to a group health plan cannot be increased based on the genetic information of an individual(s) enrolled in the plan.
• Insurers cannot require an individual or family member to undergo a genetic test before enrollment in a group health plan.
• Insurers cannot request, require, or purchase genetic information about an individual before the person’s enrollment in a group health plan or in connection with that person’s enrollment in the plan.
• Health insurers cannot use genetic information as the only basis upon which to claim a pre-existing condition is present and, therefore, to deny coverage. Some of the protections under GINA with regard to employment include the following:
• Employers cannot refuse to hire and cannot fire individuals based on their genetic information.
• Employers cannot discriminate against employees with regard to salary, terms and conditions of employment, privileges, and opportunities for the future because of their genetic information.
• Employers cannot request, require, or purchase genetic information about an employee except under specific circumstances.
• Employers cannot disclose an employee’s genetic information except under specific circumstances.

Before GINA was passed, many states enacted laws against genetic discrimination. The amount of protection provided by these laws varies widely from state to state. GINA sets a minimum standard of protection that must be met by all states. It does not weaken the protections provided by any state law.