Genetic Discrimination and Health Insurance

The ability to obtain sensitive genetic information about individuals, families, and even populations raises profound and troubling questions about who will have access to this information and how it will be used. With the accelerating pace of gene discovery, we will soon be able to identify quickly a wide range of risk factors, and to find effective preventive and treatment strategies that will lower the personal, social, and perhaps the financial costs of disease in the future. Every human being carries genes that predispose to common illnesses. In many circumstances, as with VHL, knowing this information can be beneficial, as it allows individualized strategies to be designed to reduce the risk of illness.

As knowledge about the genetic basis of common disorders grows, so does the potential for discrimination in health insurance coverage for an ever increasing number of Americans. While health care itself is not in jeopardy for people who live in countries with health care for all citizens, similar concerns frequently arise in obtaining life insurance.

The use of genetic information to exclude high-risk people from health care by denying coverage or charging prohibitive rates will limit or nullify the anticipated benefits of genetic research. In addition to the real and potentially devastating consequences of being denied health insurance, the fear of discrimination has other undesirable effects. People may be unwilling to participate in research and to share information about their genetic status with their health care providers or family members because of concern about misuse of this information. As genetic research progresses, and preventive and treatment strategies are developed, it will be increasingly important that discrimination and the fear of discrimination not be a roadblock to reaping the benefits.

Genetic information has already been used by insurers to discriminate. In the early 1970's, some insurance companies denied coverage and charged higher rates to African Americans who were carriers for the gene for sickle cell anemia. Recent studies have documented cases of genetic discrimination against people who are healthy themselves but who have a gene that predisposes them or their children to a later illness such as Huntington's disease. In a recent survey of people with a known genetic condition in the family, 22% indicated that they had been refused health insurance coverage because of their genetic status, whether they were sick or not.

Because of the high costs, insurance is essentially required to have access to health care in the United States. Over 40 million people in the United States are uninsured.3 Group insurance, individual insurance, self-insurance, and publicly financed insurance (for example, Medicare and Medicaid) are the principal forms of health insurance in the United States for the ~240 million Americans with coverage. Most people get their health insurance through their employer. For individuals and small groups, insurance providers use medical history as well as individual risk factors, such as smoking, to determine whether to provide coverage and under what terms. This is known as underwriting. Insurers argue that underwriting is essential in a voluntary market to prevent "adverse selection," in which individuals elect not to purchase insurance until they are already ill or anticipate a future need for health care. Insurers fear that individuals will remain uninsured until, for example, they receive a genetic test result indicating a predisposition to some disease such as breast or colon cancer.

While some states have enacted laws to protect individuals from being denied health insurance on the basis of genetic information,4 (See Fig. 1) Insurers can use other phenotypic indicators, patterns of inheritance of genetic characteristic, or even requests for genetic testing as the basis for discrimination. Meaningful protection against genetic discrimination requires that insurers be prohibited from using all information about genes, gene products, or inherited traits to deny or limit health insurance coverage.

Fig. 1. State laws on the use of genetic information in health insurance. States shown in lightest gray were the first states to enact legislation addressing genetic issues in insurance. Florida and Alabama laws prohibit insurers from denying coverage on the basis of the sickle cell trait. North Carolina prohibits insurers from denying coverage because the applicant has the hemoglobin C or sickle cell trait. Maryland prohibits discrimination in rates based on any genetic trait unless there is actuarial justification. California, Oregon, Colorado, Minnesota, Wisconsin, Ohio, Georgia, and New Hampshire prohibit insurers, to varying degrees, from requiring or requesting genetic tests or their results, from denying coverage on the basis of genetic tests, and from using tests to determine rates and benefits. California, Colorado, Oregon, and Wisconsin laws include provisions to protect the privacy of genetic information. Massachusetts and Hawaii have related bills pending.

No federal laws are currently in place to prohibit genetic discrimination in health insurance.5 It is not clear if the current health insurance reform proposals would prohibit insurers from denying coverage on the basis of genetic information. If enacted, current health reform proposals would prohibit denying insurance to those currently suffering from disease or with a past history of disease. But these proposals may not protect people who are healthy but have a genetic predisposition to disease.

Planners of the Human Genome Project recognized from the beginning that maximizing the medical benefits of genome research would require a social environment in which health care consumers were protected from discrimination and stigmatization based on their genetic make-up. Genome programs at both the DOE and the National Center for Human Genome Research, a component of the National Institutes of Health (NIH), have each set aside a portion of their research budget to anticipate, analyze, and address the Ethical, Legal, and Social Implications (ELSI) of new advances in human genetics. The original planners also created the NIH-DOE ELSI Working Group, which has a broad and diverse membership including genome scientists; medical geneticists; experts in law, ethics, and philosophy; and consumers, to explore and propose options for the development of sound professional and public policies related to human genome research and its applications. The ELSI Working Group has long been involved in discussions about the fair use of genetic information. In a 1993 report, "Genetic Information and Health Insurance,"8 the ELSI Working Group recommended a return to the risk-spreading goal of insurance. The Working Group suggested that individuals be given access to health care insurance irrespective of information, including genetic information about their past, current, or future health status. Because denial of insurance coverage for a costly disease such as breast cancer may prove to be a death sentence for many women, the National Action Plan on Breast Cancer (NAPBC), a public-private partnership designed to eradicate breast cancer as a threat to the lives of American women, has identified genetic discrimination in health insurance as a high priority.

Building on their shared concerns, the NAPBC and the ELSI Working Group cosponsored a workshop in July 1995 on genetic discrimination and health insurance.2 Scientists, representatives from the insurance industry, and members of the ELSI Working Group and the NAPBC participated in the one-day session. On the basis of the information presented at the workshop, the ELSI Working Group and the NAPBC developed the following recommendations and definitions for state and federal policy-makers to protect against genetic discrimination:

1) Insurance providers should be prohibited from using genetic information, or an individual's request for genetic services, to deny or limit any coverage or establish eligibility, continuation, enrollment, or contribution requirements.

2) Insurance providers should be prohibited from establishing differential rates or premium payments based on genetic information or an individual's request for genetic services.

3) Insurance providers should be prohibited from requesting or requiring collection or disclosure of genetic information.

4) Insurance providers and other holders of genetic information should be prohibited from releasing genetic information without prior written authorization of the individual. Written authorization should be required for each disclosure and include to whom the disclosure would be made.

The definitions are as follows. Genetic information is information about genes, gene products, or inherited characteristics that may derive from the individual or a family member. Insurance provider means an insurance company, employer, or any other entity providing a plan of health insurance or health benefits including group and individual health plans whether fully insured or self-funded.

These recommendations have been endorsed by the National Advisory Council for Human Genome Research (NACHGR). The NACHGR stresses the positive value of genetic information for improving the medical care of individual patients and the need to ensure the freedom of patients and their health care providers to use genetic information for patient care. The NACHGR views the elimination of the use of genetic information to discriminate against individuals in their access to health insurance as a critical step toward these goals.

The recommendations presented here for state and federal policy-makers are intended to help ensure that our current social, economic, and health care policies keep pace with both the opportunities and challenges that the new genetics present for understanding the causes of disease and developing new treatment and preventive strategies.

l. Reporting an article in Science, 270:391-393 (20 October 1995).

2. "Genetic discrimination and health insurance: A Case study on breast cancer," Bethesda, Maryland, 11 July 1995, workshop sponsored by the NAPBC, and the NIH-DOE Working Group on the ELSI of Human Genome Research. 3. Employee Benefit Research Institute Special Report SR-28, issue brief number 158, February 1995. 4. K. H. Rothenburg, J. Law Med. Ethics, in press.

5. The March 1995 EEOC guidance on the term "disability" extends protection to individuals who are discriminated against in employment decisions solely on the basis of genetic information. This is the first broad federal protection against unfair use of genetic information.

6. "Genetic information and health insurance: Report of the task force on genetic information and insurance (NIH-DOE Working Group on the ELSI of Human Genome Research, 10 May 1993).

As published in the VHL Family Forum, 4:1, March 1995. For permission to reprint, please contact the VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.