The Genetic Information Nondiscrimination Act: a new look at an old problem.

Author:Ziskind, Sagit

    Following more than a decade of continuous academic and congressional debate, congress has finally settled the issue of health insurers' access to genetic information by adopting the Genetic Information Nondiscrimination Act of 2008 (GINA). (1) GINA provides comprehensive protection, outlawing the use of genetic information by health insurers when making coverage determinations. Unlike previous genetic nondiscrimination laws, GINA's definition of "genetic information" is all-embracing, and encompasses a wide spectrum of medical data that can indicate an individual's predisposition towards a particular illness. One of the central changes established by GINA is an across-the-board prohibition of the use of family health history by the health insurance industry. (2)

    This article offers a new framework for understanding the merits of GINA and the appropriateness of its scope. Drawing on economic rationales, it explains why GINA's extensive prohibition on the use of family medical history by health insurers represents a substantial improvement over the preexisting legislative scheme, which largely left family medical information unprotected. (3) It examines the nexus between family medical history and other innovative sources of genetic information, and shows that the former exclusion of family medical information from legal protection had considerably impeded the effectiveness of genetics legislation.

    The past few years have been marked by significant progress in understanding the role of genetic factors in human health and disease. Scientific and technological advancements in genetics have made possible increasingly accurate statistical predictions about an individual's future health risks. (4)

    As innovative genetic technology has become increasingly ingrained in medicine, health insurers' access to genetic information has sparked major concerns. In the wake of public fear that utilization of genetic services will adversely affect health insurability, statutes banning the use of genetic information by the health insurance industry have been enacted at both the state and federal levels. (5) Yet, no consensus has evolved on the statutory definition of genetic information.

    State laws have adopted conflicting approaches. Some legislatures defined the term "genetic information" narrowly, only prohibiting the use of innovative laboratory techniques that can detect inheritable characteristics or "genetic testing". (6) Other legislatures used a more comprehensive definition, also banning the use of genetic information derived from sources that have been an integral part of the underwriting process for generations, such as family medical history. (7)

    Splitting genetic information into two categories has been repeatedly criticized by commentators, who often called for comprehensive and uniform protection against health insurers' access to genetic information. (8) Yet, while those who tried to confront the definitional dilemma typically agreed that the traditional family medical history is genetic in nature, they have treated it as simply another piece of genetic information. The distinctive features of family medical information and its contemporary role in medical genetics have been largely overlooked by legal academics. This omission was troubling, as it contributed to an incomplete understanding of the social and economic dynamics underlying the regulation of genetic information in the area of health insurance.

    GINA has proscribed health insurers in both the individual and group markets from making coverage determinations based solely on individuals' genetic predisposition to develop a future disease. GINA's scope of protection is remarkably broad. In addition to outlawing health insurers' access to a wide variety of predictive genetic tests, GINA places a wide spectrum of family medical information off-limits. (9) Family health information protected under GINA includes information about the genetic tests of family members, the manifestation of disease or disorder in family members, information about any fetus carried by a pregnant woman and any embryo held by the individual or family members. (10) GINA's definition of "family members" covers up to fourth-degree relatives. (11)

    This article argues that by filling the family history gap, GINA has effectively cured some of the major deficiencies in the prior genetic legislative fabric. As this article will show, the limited protection previously provided to family health information undercut the principle policy objectives genetic legislation claimed to serve, i.e., protecting the confidentiality of sensitive genetic test results, and maximizing the social and economic value of genetic research.

    Part II provides necessary background information about the various sources of genetic information and their value to the health insurance industry. It also reviews the arguments that have been made by scholars for and against legislation prohibiting the use of genetic information by health insurers, and the laws that were enacted in the wake of this debate. The discussion demonstrates that prior to the enactment of GINA, genetic information derived from family health history was largely left unprotected.

    Part III shows that privileging innovative genetic testing, while leaving traditional family medical information unprotected, is at odds with notions of economic efficiency. The discussion draws attention to the prominent role of family history in medical genetics, and the extensive amount of family health information that is required for a reliable interpretation of genetic testing. These aspects have received little legal attention. Part III concludes that banning the use of family health history by the health insurance industry is a key component in the effort to realize the full potential of genetic research.

    Part IV shows that even if drawing a sharp line between family medical history and genetic testing is defensible, it is virtually impossible. Having a hereditary disease in the family does not provide conclusive evidence that all family members are carrying the familial "defective genes." The results of genetic testing can determine an individual family member's risk for developing that particular genetic condition with greater certainty.

    When health insurers are free to use "second best" evidence, i.e., family health history, to assess applicants' risk, applicants with questionable family history have incentives both to undergo genetic testing, and to disclose favorable results to the insurer, thereby escaping the high-risk pool. Selective disclosure of favorable genetic test results will lead insurers to infer that those who remain silent are withholding unfavorable test results. Paradoxically, even in the absence of direct access to genetic test results, sensitive genetic information is likely to surface. Attempts to protect the confidentiality of sensitive genetic testing without simultaneous protection of family medical history are therefore doomed to fail.


    1. Sources of Genetic Information

      In April 2003, scientists announced the successful completion of the Human Genome Project. (12) Information generated by the Human Genome Project, together with the recent development of sophisticated genetic technologies, promises to revolutionize medicine and health care. Understanding the genetic contributions to the risk of diseases may ultimately allow the development of effective strategies for diagnosis, prevention and treatment of them. The more insights scientists get into the mysteries of human genes, the more genetic information is expected to be utilized in the practice of medicine.

      Genetic information can potentially be derived from many difference sources. (13) One major way to attain genetic information is by means of genetic testing, which involves a variety of laboratory techniques that analyze biological materials such as DNA, RNA, chromosomes, and proteins. (14) The analysis is conducted in order to identify abnormalities associated with inheritable conditions. (15)

      Genetic tests are increasingly becoming an integral feature of health care. At present, there are more than a thousand clinical genetic tests available, and several hundred more are available in a research setting. (16) Genetic testing can help predict risk for a wide range of diseases such as Huntington's disease, cystic fibrosis, hypercholesterolemia, sickle-cell traits, some forms of Alzheimer's disease, colon cancer, melanoma, breast and ovarian cancer. (17) A positive test result for breast cancer type 1 (BRCAI) or breast cancer type 2 (BRCA2) for example, can indicate that an individual has a greater than average risk of developing breast cancer. (18) Genetic tests can also be utilized to confirm diagnosis of medical conditions, guide treatment of affected individuals, help determine medication dosages and inform reproduction decisions. (19)

      Another source of information that can provide hints about one's genetic profile is the family medical history. A pattern of inheritable illnesses affecting one's family members may suggest that one is also at risk for developing the particular condition. Family health history is perhaps the most traditional tool used by physicians to identify possible genetic conditions and develop prevention strategies.

      Though genetic technology continues to evolve, the traditional family health history still provides a telling source of information in medical genetics. (20) To begin, the manifestation in the family of a disease that has a genetic basis is often the first "red flag" that other family members have an increased risk for that hereditary condition. Individuals with genetic diseases in their families may therefore be among the most likely candidates for genetic testing. (21)

      Further, and perhaps more importantly, family health information is "a critical factor in determining...

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