Genetic testing has grown dramatically in the past decade, and is increasingly becoming an integral part of health care. Currently, genetic tests for about 1500 diseases are clinically available, and several hundred more are under development. These tests can help diagnose genetic conditions and guide treatment decisions, help predict risk of future disease, inform reproductive decision making, and assist medication choices or dosing.

The advent of genetic testing raises a number of questions about how an individual’s genetic information can be used. In particular, can employers use genetic information to make hiring and firing decisions? Can insurance companies deny people coverage based on their genetic test results?

Despite widespread, longstanding agreement among American citizens and politicians that protection from genetic discrimination should be clear and consistent, individuals’ genetic information is protected only by a largely untested patchwork of state and federal regulations.

With the passage of the Health Insurance Portability and Accountability Act (HIPAA) in 1996, Congress put in place some restrictions on group health insurers’ use of health-related information in making coverage decisions and in setting premiums. Congress specifically recognized and listed genetic information as protected health information. HIPAA further states that genetic information in the absence of a diagnosis – for example, predictive genetic test results – cannot be considered a pre-existing condition. However, HIPAA does not apply to people who need individual coverage (those who are not covered by an employer’s policy), nor would it prevent an entire group from being denied coverage or charged higher rates based on the genetics of one or more of its members.

In a workplace setting, the Equal Employment Opportunity Commission has interpreted the Americans with Disabilities Act to provide some protections from the use of genetic information by employers, but the extent of those protections is largely unclear. In the federal government, executive departments and agencies are prohibited by executive order from using protected genetic information as a basis for employment decisions.

Many states have enacted protections against genetic discrimination in health insurance or employment or both. However, these state laws vary widely in scope and many are untested in court. State laws fail to provide a uniform floor of employment and health insurance protections on which Americans can rely.

Documented instances of genetic discrimination include a case in which workers at Burlington Northern Santa Fe Railroad were subjected to surreptitious genetic testing to determine if they had a supposed genetic basis for work-related carpal tunnel syndrome. In another case, two young children were denied health insurance because they were carriers of a recessive genetic disease, even though they would not contract the illness.

The impact of genetic discrimination reaches far beyond incidents like these: The threat of discrimination hinders both genetic research and clinical practice. Linking gene variants to health outcomes often requires studies involving large numbers of people, but scientists report that many potential subjects are deterred by the fear that their information could be used against them by employers or insurers. Thus research is impeded that would help to bring about the much-heralded era of personalized medicine.

Meanwhile, individual patients who could benefit from genetic testing are in some cases foregoing it out of concern over possible repercussions. A 2003 study of 470 people with a family history of colorectal cancer showed that nearly half rated their level of concern about genetic discrimination as high. Those individuals with high levels of concern indicated that they would be significantly less likely to consider meeting with a health care professional to discuss genetic testing, or to undergo testing. When people opt not to be tested, they lose the opportunity to seek monitoring and preventive care to avoid conditions for which they are at higher risk. In this scenario, genetic discrimination negatively affects not only patients, but also health insurers (who will pay more to treat conditions that are not caught early) and employers (when employees require more sick days and medical leave).

A 2007 Genetics and Public Policy Center survey showed that 93 percent of respondents thought employers should not have access to their genetic test results, and 93 percent opposed letting insurance companies have access to results. Many policy-makers have noted the need to prevent genetic discrimination, including President George W. Bush, who said in 2001, “To deny employment or insurance to a healthy person based only on a predisposition violates our country’s belief in equal treatment and individual merit.” The U.S. Senate unanimously passed comprehensive genetic information nondiscrimination acts in 2003 and 2005, and the House of Representatives passed a similar bill in April 2007, but it has yet to pass the full Congress and be signed into law.

On March 5, 2008, the text of the Genetic Information Nondiscrimination Act (GINA) was added to the Paul Wellstone Mental Health and Addiction Equity Act (H.R.1424). The new bill passed the House 268-148. The future of GINA remains unclear, as the mental health bill may go to a House-Senate conference committee to be reconciled with a mental health bill passed by the Senate last year – a version that does not include GINA. Meanwhile, the uncertainty surrounding genetic discrimination continues.

Last updated April 2008