Mapping Public Policy for Genetic Technologies

chapter 5. Challenges in Drafting

This chapter was written by Sonia Suter, J.D., M.S., Greenwall Fellow; Lawrence Gostin, Professor of Law of the Georgetown/John Hopkins Program on Law and Public Health; and Rosemary Quigley, Georgetown/John Hopkins Program on Law and Public Health.

Information Contained in this chapter
Sickle Cell Screening: A Case Illustration
Overview of the Genetics Legislation
Genetic Testing: Informed Consent and Counseling
Conclusion
Notes

Legislation of any sort requires scrupulous attention to the meaning and implications of language. In issuing rules or regulations, courts and administrative agencies scrutinize a legislature's choice of words to determine the significance and intent of statutory provisions. Conflicts over the meaning of a single phrase or word in a statute have spawned cases and even entire bodies of law.

Although language is important in drafting any legislation, it may be critical for laws that concern scientific matters, particularly those involving genetics. Legislators may have little training or background in the sciences, which may affect policy development in at least three ways. First, because of the highly technical topic, legislators may use genetic terms imprecisely or without full appreciation of the broader implications of a particular word choice. Second, statutes may be based on incorrect assumptions about, for instance, genetic carrier states, genetic propensities, or the meaning or accuracy of genetic testing. Third, genetic knowledge and technology are constantly changing, quickly outdating some legislative language.¹

Sickle Cell Screening: A Case Illustration

Legislation enacted in the 1970s that either mandated or made available sickle cell screening illustrates some of the difficulties.² Much of the legislative language revealed confusion about basic patterns of inheritance and the pathology of the disease. In particular, the statutes often failed to distinguish between sickle cell disease and sickle cell trait, instead lumping them together under the term "sickle cell anemia."³ An individual with sickle cell disease, an autosomal recessive condition, has two copies of the disease gene (one from each parent). In contrast, a carrier (someone with sickle cell trait) has only one copy of the gene. Carriers are unaffected, although they have a heightened (25 percent) risk of having a child with sickle cell disease if their partner also is a carrier. Misunderstanding of the science helped perpetuate popular stereotypes, and resulted in stigmatization and discrimination. Some life insurers charged higher premiums for sickle cell carriers, even though no evidence existed (or currently exists) that carrier status diminishes life expectancy.

There were other problems with sickle cell legislation. Some states required neonatal screening for sickle cell disease although, at that time, testing during the first months of life did not always identify a child with the disease.⁴ Premarital screening programs also were directed to "Negroes" and "persons not of the Caucasian, Indian, or Oriental races," although many people of Middle Eastern or Mediterranean descent may carry the gene.⁵ Some statutes required sickle cell screening before children could enter the public schools, under the misconception that sickle cell anemia is infectious.⁶ Scientific technology had produced a new and potentially beneficial tool, fueling enthusiasm to make available and sometimes even require use of it.⁷

The 1990s have generated new legislation to promote the benefits of genetic technology, and to protect against abuses. Today's legislators, to be sure, are much more sophisticated and well understand the potential social consequences of discrimination and loss of privacy. Yet, in some ways, modern legislatures may inadvertently be repeating the mistakes of their predecessors. A zealous focus on the new technology has captured the public imagination, just as it did in the 1970s. To protect against abuses of genetics information, some legislators are drafting statutes without sufficient forethought to the consequences. Again, a need may exist for more judicious and cautious use of language, and for more attention to long-term ramifications.

Creation of Property Rights

Occasionally, the legislatures' desire to grant individuals control over their genetic information has led to provisions proclaiming that individuals have a property interest in their DNA samples or genetic information. A number of statutes state that genetic information is the unique or exclusive property of the individual to whom the information pertains.³⁰

Penalties

Testing without consent or disclosing genetic information without authorization may be subject to legal penalties. These regulations apply mainly to physicians and insurers, and, sometimes, researchers. Relief includes civil damages ³¹ as well as compensation for bodily and emotional injury,³² or equitable remedy, such as issuance of insurance.³³ Reasonable attorney fees and the costs of litigation also may be awarded,³⁴ and more severe penalties may be imposed in instances of willful violation or of disclosure for profit.³⁵

Definitions: Genetic Information, Tests, and Characteristics

Legislation often uses such phrases as "genetic information," "genetic characteristics," "genetic conditions," and "genetic tests." These terms are interconnected and often are used synonymously. The definitions are fundamental to determining the scope of protections created by these statutes. Therefore, considerable attention is given to the syntax.

Carrier vs. Affected

A few statutes retain some confusion of the earlier genetics-related legislation by assuming that carrier status means having a genetic disease. Other legislation uses the term "condition" whether referring to individuals who carry a single recessive gene, two copies of recessive genes, or susceptibility genes (like the breast cancer genes). For the most part, however, current statutes define these terms with greater sophistication than did their predecessors.

Genetic Information

The statutes that define genetic information commonly describe it as "information about genes, gene products, or inherited traits that may derive from an individual or family member."³⁶ This definition is broad enough to unwittingly encompass information that goes beyond health matters. Inherited traits, for instance, include, among other things, appearance and some aspects of personality. Moreover, the definition potentially includes conditions that do not fall within the traditional notion of genetic disease as a single gene disorder.³⁷ For example, genetic information so defined could include information about a family history of disease that has strong genetic components, but that also may be heavily influenced by environmental factors (e.g., heart disease, diabetes or schizophrenia).

Other statutes define genetic information simply as "information derived from the results of a genetic test"³⁸ or the "results of DNA analysis."³⁹ These definitions, however, may be narrower than legislatures intend, and may exclude some genetic information that legislatures may be trying to protect. For example, a family history that reveals that someone's father and brother had Huntington's disease is genetic information in the traditional sense, because it indicates that the individual has a 50 percent chance of carrying the gene for Huntington's. Yet, under the definition, this information would not be considered genetic information.

Unfortunately, both types of definitions fail to differentiate between types of susceptibilities. Specifically, these definitions do not distinguish among people who have a genetic condition, people who are at increased risk of developing such a condition (because they carry a gene that predisposes them), people who are presymptomatic (because they carry a gene that has not yet expressed, but that will result in disease in the future), and people who are carriers (meaning that they have only one recessive deleterious gene, and therefore are not--and will not be--afflicted with the condition, although they may have increased risk of having affected children and kin). This may or may not be problematic, depending on the goal of the genetics legislation--that is, whether the legislators want to protect as much genetic information as possible or focus only on predictive genetic information. Legislators, nonetheless, ought to be aware of the full consequences of the language.

Genetic Tests and Characteristics

Many statutes do not define genetic information, but define instead genetic tests. Virtually all statutes that do so define "genetic test" as analysis of DNA, RNA, mitochondrial DNA, chromosomes, genes, or gene products to look for the presence or absence of genes, variations, alterations, or mutations of the DNA, RNA, mitochondrial DNA, chromosomes, genes or gene products. What distinguishes the various definitions, however, is the nature of the information obtained from the test.

Many statutes try to limit the scope of the statute's reach by drawing distinctions. For example, many of these laws address certain types of genetic testing, such as presymptomatic, asymptomatic, or predispositional testing. Others, however, use broad definitions that go beyond predictive testing and include diagnostic tests. Each type of classification is discussed below.

Broad definitions. Some statutes describe a genetic test as a test "of a person's genes, gene products, or chromosomes for abnormalities or deficiencies, including carrier status, that are linked to physical or mental disorders or impairments, or that indicate a susceptibility to illness, disease, impairment, or other disorders, whether physical or mental, or that demonstrate genetic or chromosomal damage due to environmental factors."⁴⁰ This definition includes a range of testing, including testing for predisposition or susceptibility to disease, presymptomatic testing, testing clinically to diagnose symptomatic individuals, prenatal testing, and carrier testing.

Other definitions are broader still. One statute does not refer to genetic testing, but to "DNA analysis", which it defines as "the medical and biological examination and analysis of a person to identify the presence and composition of genes in that person's body. The term includes DNA typing and genetic testing."⁴¹ This definition theoretically includes testing to detect not only predisposition to or the existence of genetic disease, but also testing for predisposition to or the existence of non-disease characteristics such as temperament and personality or physical traits.

Ironically, these broad definitions tend to be narrow, in that they limit genetic testing to a particular kind of test. Yet, sometimes more "routine" tests-such as x-rays-can provide as much genetic information as analyses of DNA, RNA, genes, chromosomes or gene products. When the statutes do not specifically exclude routine tests from the definition, however, they might be construed to include a broader range of testing. For example, one statute describes genetic tests as "including tests of nucleic acids such as DNA, RNA and mitochondrial DNA, chromosomes or proteins,"⁴² which, although not suggestive of radiographs, does not specifically exclude them.

Presymptomatic or predisposition testing

Several statutes narrow the definition of "genetic tests" to "predictive tests," focusing on predisposition or presymptomatic testing. In the clinical setting, predisposition (or susceptibility) testing is testing for genes that predispose one to a certain condition. Presymptomatic testing is generally understood to be testing for genes that are not yet expressed, such as genes associated with late-onset disorders like Huntington's disease. Both types of tests usually are performed on individuals who currently are healthy to determine whether they carry genes that will lead to increased risks of developing disease or genes that will be expressed in the future.

For example, one statute defines a genetic test as a "laboratory test . . . to identify . . . alterations in the DNA, RNA, proteins, or chromosomes that are associated with a predisposition for a clinically recognized disease or disorder."⁴³ Others define it similarly, though circuitously, by defining a genetic test in terms of predisposing genetic characteristics,⁴⁴ defined as "any inherited gene or chromosome, or alteration thereof, that is scientifically or medically believed to predispose an individual to a disease, disorder or syndrome or to be associated with a statistically significant increased risk of development of a disease, disorder, or syndrome."⁴⁵ A Minnesota statute defines a genetic test as a

[p]resymptomatic test . . . for the purpose of determining the presence or absence of a gene or genes that exhibit abnormalities, defects, or deficiencies, including carrier status, that are known to be the cause of a disease or disorder, or are determined to be associated with a statistically increased risk of development of a disease or disorder.⁴⁶

The ambiguity in definitions lies in whether they include testing for genetic conditions in symptomatic individuals. Since presymptomatic or predisposition testing is usually performed on asymptomatic individuals, one might presume that such definitions are so limited. It is possible, however, to conduct tests for late-onset or susceptibility disease genes on an individual whose condition suggests a particular disease or condition. The Minnesota statute, for example, could be interpreted in several ways. Although the definition is limited to presymptomatic testing, it also could include testing for genes that are known to be the cause of a disorder. Such testing conceivably could encompass testing for genes other than late-onset or susceptibility genes in other words, genes that currently cause symptoms of disease. Given the qualifying word "presymptomatic," however, the legislature may have been attempting to distinguish between presymptomatic testing for late-onset genes that cause disease--such as the Huntington's gene and testing for predisposing or susceptibility genes that lead only to an increased risk of disease--such as some cancer genes. This is precisely the ambiguity that leaves unclear the reach of the statute's protection: Does the statute protect only genetic information obtained from testing asymptomatic individuals or does it include information from diagnostic testing of symptomatic individuals as well?

Some statutes avoid such ambiguity by expressly stating that the definition is limited to testing people who are asymptomatic. For example, one statute defines genetic testing as testing for a genetic characteristic, defined as "any scientifically or medically identifiable gene or chromosome, or alteration thereof, which is known to be a cause of a disease or disorder, or determined to be associated with a statistically increased risk of development of a disease or disorder, and which is asymptomatic of any disease or disorder."⁴⁷ Similarly, New York defines genetic testing as "[l]aboratory testing . . . to diagnose the presence of a genetic variation linked to a predisposition to a genetic disease or disability in the individual or the individual's offspring." Genetic predisposition is defined as

the presence of a genetic variation in the composition of the genes of an individual or an individual's family member which is scientifically or medically identifiable and which is determined to be associated with an increased statistical risk of being expressed as either a physical or mental disease or disability in the individual or having offspring with a genetically influenced disease, but which has not resulted in any symptoms of such disease or disorder.⁴⁸

Another statute defines a genetic test as a

[l]aboratory test of human DNA or chromosomes for the purpose of identifying the presence or absence of inherited alterations in genetic material or genes which are associated with a disease or illness that is asymptomatic at the time of testing and that arises solely as a result of such abnormality in genes or genetic material.⁴⁹

These definitions actually are quite narrow because they exclude several genetic tests typically used in genetics clinics. These definitions would not, for example, include diagnostic tests to determine whether an individual is currently afflicted with a genetic illness. Thus, a genetic test (even one that analyzes DNA) to learn whether a child with failure to thrive has cystic fibrosis would not qualify as a genetic test, nor would prenatal tests for Down syndrome or other chromosomal abnormalities because they are not presymptomatic tests.⁵⁰

Technically, a definition that limits genetic testing to presymptomatic testing should not include testing for carrier status if carrier status is defined as carrying a single copy of an autosomal recessive disease gene.⁵¹ Carriers are not presymptomatic or predisposed to a genetic condition because they do not, and will not, have symptoms of a genetic condition. They are, however, asymptomatic in the sense that they have no symptoms of the disease. Yet, some statutes specifically include carrier testing within the definition.⁵² Others are ambiguous on this point, describing predisposition testing as testing for, among other things, "an increased statistical risk of ... having offspring with a genetically influenced disease, but which has not resulted in any symptoms of such disease or disorder."⁵³ This definition leaves unclear whether the carrier (the one with the increased risk of having a child with a genetic disease) or the offspring must be asymptomatic. For instance, does the definition include only the risk of having a child who will be predisposed to a genetic condition--but who will be initially asymptomatic or does it refer to the fact that a carrier will have no symptoms of the condition, although he or she has an increased risk of having an affected child?

In some ways, the narrow definitions that focus on predictive testing reflect sophistication; they attempt to distinguish among different types of genetic testing. In addition, they reflect an effort to focus on what has been said to make genetic information different from other medical information--the idea that genetics "provides information about an individual's predisposition to future disease."⁵⁴

Carrier testing, however, does not reveal information about an individual's future health problems. Yet, information based on such testing is predictive regarding offspring and may pose the same kinds of discrimination problems as information from presymptomatic or predisposition testing. Just as a health insurer may make underwriting decisions based on genetic predisposition for otherwise healthy individuals, so may it make such decisions based on a heightened risk that an otherwise healthy individual will have a child with a medical condition. In either case, the insurer would be making underwriting decisions based on possible but not definite future increased health care expenditures.

These statutes reflect efforts to distinguish genetic information from nongenetic medical information by focusing on the predictive nature of genetic testing; however they also exclude routine medical testing from the definition. Thus, testing that happens to "be associated with a genetic variation, unless conducted with the intent to identify such genetic variation,"⁵⁵ is not considered genetic testing. Genetic testing so defined does not include cholesterol tests or "other tests not conducted for the purpose of determining the presence or absence of a person's gene or genes."⁵⁶ Moreover, it rarely includes physical measurements,⁵⁷ chemical, blood or urine analysis.⁵⁸

This legislative drafting suggests an awareness that some nongenetic tests (e.g., cholesterol) also may be predictive. However, the line these statutes are trying to preserve between genetic and nongenetic medical information is not as stable as is sometimes believed. For example, routine tests or general medical information (such as family history) may provide important predictive genetic information. Definitions that attempt to circumscribe the notion of genetic testing or information may eliminate relevant information, rendering them under-inclusive. Conversely, efforts to include all relevant genetic information may be over-inclusive and fail to adequately distinguish nongenetic medical information. These difficulties demonstrate the inherent problems of trying to separate genetic from nongenetic information and of treating genetics as an exceptional area of medicine.

Genetics, the Health Care System and Antidiscrimination

Genetics legislation may have important effects on the health care system, including testing, counseling, clinical practice and discrimination. Many of these effects are intended by the legislature. Unfortunately, some are not.

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