By Mary R. Anderlik
Health Law & Policy Institute
Since the launch of the Human Genome Project in 1990, knowledge concerning genetic factors in disease has increased dramatically. In the absence of a federal framework addressing potential uses and abuses of genetic information, states continue to grapple with a range of thorny issues.
Genetics and health. Genetic mutations that cause or contribute to disease may be either inherited or acquired in the course of a lifetime. When a reproductive or "germ" cell is damaged, the mutation may be passed on to a child, in which case it will be present in virtually every cell of the body. Scientists estimate that inherited genetic mutations play a role in over 4,000 diseases. By way of contrast, mutations that are acquired arise in individual cells and are only passed on to the "descendent cells" created when those cells divide. They may nevertheless be lethal. For example, all cancer is genetic, i.e., triggered by altered genes, but only about 5-10% of cancers are thought to be closely linked to a particular set of inherited genetic defects.
The health consequences of having a genetic mutation, even an inherited one known to be associated with a serious disease, vary considerably. Some genetic defects have no consequences for an individual’s health, but may be relevant to reproductive choices. In some cases, mutations increase the likelihood of disease but do not invariably lead to disease, while in others, different mutations to the same gene are associated with very different degrees of severity of disease.
Genetic testing. In addition to studying chromosomes or genes, genetic testing in a broad sense includes biochemical tests for abnormal gene products (such as proteins) that signal a defect. Types of genetic testing include newborn screening, for example, for phenylketonuria; carrier testing for couples contemplating having children, especially when both partners come from families affected by inherited disorders such as cystic fibrosis or sickle-cell anemia; in clinical research, testing of cancer or precancer cells for purposes of early detection, diagnosis, and prognosis; and predictive genetic testing. These examples also are a reminder that information about a person’s genetic makeup can be gleaned from sources other than tests, such as a family history or a record of frequent medical check-ups.
Most attention recently has been focused on predictive genetic testing. This kind of testing permits the identification of people who are at heightened risk of disease before they display any symptoms of disease, and often before the genetic defect detected by the test has manifested itself as a disease such as breast cancer or Alzheimer’s. The benefits of predictive genetic testing are obvious: relief from anxiety for recipients of negative test results, increased knowledge and ability to plan for recipients of positive test results, and related to health care, better decisions about the prevention and treatment of disease. The harms include the cost of testing (raising the question of who should pay), negative psychological and emotional reactions following testing (which may be exacerbated where testing is required rather than voluntary), and fear of discrimination and actual discrimination.
Recent State-Level Legislative Activity
The Health Policy Tracking Service of the National Conference of State Legislatures reports that 34 states have laws governing genetic testing and information. In 1998, 11 states (California, Connecticut, Delaware, Maine, Missouri, New Mexico, Oklahoma, Rhode Island, South Carolina, Vermont, and Wisconsin) passed new laws or strengthened existing laws addressing confidentiality and discrimination concerns in the areas of employment and insurance, and this year bills have been introduced in at least 23 states. Among the issues currently under consideration are the following: (1) refinement of definitions; (2) expansion of the scope of insurance anti-discrimination protections; and (3) provisions that prevent employers and/or insurers from requesting information or testing.
Definitions. State laws typically protect "genetic information." A number of states have passed or are considering bills that expressly include family histories (e.g., Louisiana, Montana H.B. 111) and requests for genetic services (e.g., Delaware, New Mexico). A few states expressly exclude family histories from protection. (The federal regulations implementing the Health Insurance Portability and Accountability Act of 1996 specify that genetic information includes information derived from physical medical examinations and family histories.) Definitions may also be used to limit protections to inherited genetic conditions or to persons who are presymptomatic or asymptomatic for disease.
Scope of insurance protections. Texas and a few other states limit anti-discrimination protections affecting health insurance to group plans. None of the laws enacted in 1998 appear to contain this limitation, and the same is true of bills introduced this year. Insurers other than health insurers may have a strong interest in compelling individuals to undergo genetic testing or gaining access to genetic information. For example, long-term care insurers may be eager to find out whether applicants have a genetic predisposition to Alzheimer’s disease. Given the potential for abuse, a number of states have passed anti-discrimination laws governing life, disability, and/or long-term care insurance (e.g., Colorado, Maine, New Mexico, Vermont). At a minimum, these laws require an actuarial basis for distinctions based on genetic factors and establish procedural safeguards where insurers request genetic testing.
Requests for information/testing. Many states protect a refusal to reveal information as well as a refusal to submit to a test. Also, some laws prohibit employers and insurers from even requesting genetic testing or genetic information (e.g., Missouri, Rhode Island). The 1998 Delaware law makes it unlawful for an employer to "intentionally collect" genetic information unless it can be demonstrated that the information is job-related and consistent with business necessity or is sought in connection with a bona fide employee welfare or benefit plan. Del. Stat. Ann. tit. 19, § 711. An Oklahoma law passed the same year states that no employer shall "seek to obtain," or use, a genetic test or genetic information. Okla. Stat. Ann. tit. 36, § 3614.2. Kansas S.B. 22, enacted March 29, 1999, adopts a similar approach.
The most comprehensive approach to preventing genetic discrimination in employment involves permitting employer access to medical information only when it is job-related. Laws such as the Minnesota Human Rights Act prevent employers from requiring "blanket releases" of medical records in the possession of employees’ personal physicians. See Minn. Stat. Ann. § 363.01-.20. This approach eliminates the need to distinguish genetic information from other types of sensitive medical information and avoids stigmatizing genetic conditions by treating them differently.