edited by R.A. Goodman and M.A. Rothstein (2002)
Integrating Genomics into Public Health Policy and Practice
by Laura M. Beskow, Marta Gwinn, and Mark A. Rothstein
The Human Genome Project, an ongoing collaborative effort to unravel the mysteries of human DNA, has generated high expectations among scientists and the public. Rapid advances in human genetics and accompanying technologies (such as “gene chips”) are expected to bring about major new developments in medicine and public health. Dr. Francis Collins, Director of the National Human Genome Research Institute, envisions a future where disease prevention and treatment advice are tailored to patients' genotypes, with such advice taking the form of more frequent or earlier medical surveillance, lifestyle or dietary modifications, or targeted drug therapy (1). Collins and McKusick predict that genetic assessment of individual disease risks and responses to drugs will reach mainstream health care as soon as the next decade (2).
Along with excitement about the prospect of tailored interventions, however, is some uncertainty. What do gene discoveries—seemingly announced daily—mean for public health? Until recently, the field of genetics had been confined largely to the realm of rare disorders caused by mutations in single genes. Even so, the public health community included genetics components in some of its work, experiencing noteworthy successes in birth defects prevention, newborn screening for inborn errors of metabolism, and development of genetic services capacity. Today, the mounting accomplishments of the Human Genome Project call for reassessment of the role of genomics in every condition of public health interest. Virtually all human disease results from the interaction between genetic susceptibility factors and the environment, broadly defined to include any exogenous factor—chemical, physical, infectious, nutritional, social, or behavioral. This concept of gene-environment interaction may help explain why, for example, some health-conscious individuals with “acceptable” cholesterol levels suffer myocardial infarctions at 40 years of age, while others seem immune to heart disease despite years of smoking, poor diet, and lack of exercise. Unraveling the complex interplay between genes and environment will lead to better understanding of the biologic basis of disease and to new avenues for improving health and preventing disease. (We use the term “genomics” to denote this expanded view of genes and gene products within a whole system of genes and environmental factors.)Fulfilling this promise represents an ambitious public health leadership agenda. An immense gap exists between the scientific products of the Human Genome Project and our ability to use genetic information to benefit health, and bridging this gap requires a wide range of public health activities. For example
Public health research is needed to translate information about genes and DNA sequences into knowledge about genetic susceptibility to disease and the interactions between these susceptibilities and modifiable risk factors.
- The public health community must help formulate policies that promote the secure and appropriate use of genetic information.
- Public health professionals must work with other healthcare sectors to ensure that valid genetic tests are available and accessible—especially in underserved populations—and to ensure that people have access to proven interventions.
- Public health has an important role in facilitating communication and education about genomics among all stakeholders, including health professionals; the general public; patients; scientists; policy makers; and pharmaceutical, biotechnology, and insurance industry personnel.
- Public health also has a crucial role in evaluating the impact and cost effectiveness of integrating genomics into health promotion and disease prevention programs.
Newborn screening, or more generally mandatory mass screening, is one paradigm for the integration of genomics into public health. Another is mandatory offering of genetic tests, such as laws in California (§125050-125110) requiring that all pregnant women (before a certain point in gestation) be provided information about prenatal screening for birth defects of the fetus. However, for common, complex diseases, the gene-environment interactions involved will most often increase a person's risk for disease but not definitively predict whether he or she has, or will get, the disease. Likewise, environmental interventions based on genotype may help reduce risk but not necessarily prevent or treat the disease. Thus, rather than mandatory screening, another paradigm for the integration of genomics into public health could be similar to that suggested by Dr. Collins, which is to provide individuals who wish to know with information about their personal genetic susceptibilities, together with tailored risk-reduction advice. Pharmacogenomics, the science of understanding the correlation between an individual's genetic make-up and his or her response to drug treatment, represents another potentially widespread application of DNA-based testing. Thus, while programs such as newborn screening will continue to be an important and valuable public health activity, other models may exist for future prevention programs involving genomics, particularly those focused on common, complex diseases.
Integrating genomics into public health research, policy, and practice raises many of the same legal issues discussed throughout this book. Although the addition of a genetic component to these activities does not necessarily change the fundamental legal considerations, society invests enormous power in the concept of genetics. Misplaced ideas of genetic determinism (a person's future is defined and fixed by his or her genetic makeup) and genetic reductionism (all traits, health problems, and behaviors are attributable to genetics) have significant negative implications for public health and prevention messages (3). In addition, genetics and its applications in the name of “public health” bear the historical onus of eugenics, a movement that included racial hygiene laws in Nazi Germany as well as forced sterilization, antimiscegenation laws, and restrictive immigration policies in the United States and around the world (4). Early experiences with adult screening for sickle cell disease also portend issues that must be faced in the application of genetic knowledge (5). These programs were sometimes offered without providing proper education, consent, and follow-up and, as a result, carriers who were identified (and who had no risk of developing the disease) suffered stigmatization and discrimination (6)
Previous commentators have addressed ethical, legal, and social issues associated with genetic testing (7,8) and with genetic research (9,10). This chapter focuses on selected legal issues that arise with the integration of genomics into public health policy and practice.
The promise of genetic information is tempered by several concerns about its misuse and these concerns have been the subject of a variety of legislative activities. The National Conference of State Legislatures provides a regularly updated compilation of state genetic laws related to a number of issues, such as adoption, genetic engineering and cloning, criminal law and forensics, employment, insurance, research and medical testing, paternity, and privacy (11). Here we highlight as examples two categories of such legislative activities: those aimed at genetic discrimination in employment and those involving health insurance at state and federal levels. Concerns about discrimination in insurance and employment may be of particular public health importance because fear of discrimination may prevent individuals from seeking genetic counseling or testing that could benefit their health or from participating in valuable genetic research (12).
In 2000, the American Management Association surveyed 2,133 human resources managers about workplace medical testing of employees. When presented with a specific definition of genetic testing, only seven (0.3%) respondents answered that their firms performed such testing (13). Substantially greater proportions reported testing for susceptibility to workplace hazards and taking family medical histories (15.8% and 18.1%, respectively).
Over half the states have enacted laws prohibiting genetic discrimination in employment (11). All of these ban discrimination based on genetic test results, and all prohibit genetic discrimination in hiring, firing, or terms of employment. Some also cover information about genetic testing, family history, or inherited characteristics. For example, North Carolina (§95-28.1A) prohibits employment discrimination “on account of the person's having requested genetic testing or counseling services, or on the basis of genetic information obtained concerning the person or a member of the person's family.” The statute defines “genetic information” as “information about genes, gene products, or inherited characteristics that may derive from an individual or a family member.” Many of these laws also prohibit employers from requesting or requiring genetic information, performing genetic tests, or obtaining genetic information. In New York (§296.19(a)), for example, it is unlawful for employers to 1) directly or indirectly solicit, require, or administer a genetic test to a person as a condition or employment, or 2) buy or otherwise acquire the results or interpretation of an individual's genetic test results or to make an agreement with an individual to take a genetic test or provide genetic test results.
Twenty-nine states prohibit health insurers from seeking, requiring, or using genetic information to determine eligibility for insurance and 38 states forbid rating, canceling, or denying insurance on the basis of genetic information (11). Maryland law (Ins §27-909) does both, forbidding insurers, nonprofit health service plans, and health maintenance organizations from 1) using a genetic test, the results of a genetic test, genetic information, or a request for genetic services, to reject, deny, limit, cancel, refuse to renew, increase the rates of, affect the terms or conditions of, or otherwise affect a health insurance policy or contract; and 2) requesting or requiring a genetic test, the results of a genetic test, or genetic information for determining whether to issue or renew health benefits coverage. State health insurance laws are preempted by the Employee Retirement Income Security Act (ERISA) (29 U.S.C. Chap. 18) to the extent that they attempt to regulate employer-based group health plans. Thus, the main value of the state laws is to prohibit discrimination in individual health insurance.
Hall and Rich (14) recently evaluated whether these types of laws reduce the extent of genetic discrimination by health insurers. From data collected at multiple sites, they found almost no well-documented cases of health insurers either asking for or using presymptomatic genetic test results in their underwriting decisions, either before or after these laws had been enacted or in states with or without these laws. They concluded, however, that such laws have made it less likely that insurers will use genetic information in the future and that, although insurers and agents are only vaguely aware of the laws, the laws have shaped industry norms and attitudes about the legitimacy of using this information. The authors also noted that the instances of adverse health insurance consequences they uncovered concerned payment for genetic services (e.g., genetic counseling, testing, prevention services) rather than the availability and pricing of health insurance. Payment for genetics-related services is an important barrier to access that genetic discrimination laws do not address.
Although a number of bills have been introduced over the last decade, no federal legislation has yet been passed directly related to genetic discrimination in individual insurance coverage or in employment. The 107th Congress (2001–02) introduced several such bills (e.g., H.R.602, S.318) that would prohibit health plans and insurers from discriminating on the basis of protected genetic information and also make discrimination because of protected genetic information unlawful. These bills define “protected genetic information” as 1) information about an individual's genetic tests; 2) information about genetic tests of family members of the individual; or 3) information about the occurrence of a disease or disorder in family members.
Aside from specific legislation, however, other federal antidiscrimination laws apply to genetics. These include:
- An executive order signed by President Clinton in February 2000 banning discrimination in federal employment on the basis of genetic information (15).
- The Americans with Disabilities Act of 1990 (ADA) (Pub. L. 101-336), which covers individuals who have a physical or mental impairment that substantially limits a major life activity, have a record of such an impairment, or are regarded as having such an impairment. The Equal Opportunity Employment Commission (EOEC)has issued an interpretation of the ADA stating that entities that discriminate against individuals on the basis of genetic information are regarding those individuals as having impairments (16). This interpretation is not binding on the courts, however, and subsequent case law casts doubt on whether it would be upheld. In Sutton v. United Airlines, Inc. (17), the Supreme Court held that in determining the severity of an impairment under the ADA, the condition must be considered in its mitigated state, such as with eyeglasses or medications. Significantly, the Court reasoned that Congress intended the ADA's coverage to be limited to the 43 million Americans Congress estimated as having severe disabilities. According to the Court, if individuals with “mitigated” impairments were included, the coverage would greatly exceed that figure. If similar reasoning were applied to asymptomatic individuals at genetically increased risk of disease, then the conclusion would be that they also are not covered under the ADA. In 2001, the EOEC settled its first court action challenging the use of workplace genetic testing when a U.S. railway company agreed to stop requiring genetic testing of employees who file claims for carpal tunnel syndrome (18).
- The Health Insurance Portability and Accountability Act of 1996 (HIPAA) (Pub. L. 104-191) prohibits employer-based group health plans from using any health status-related factor, including genetic information, as a basis for denying or limiting eligibility for coverage or for charging an individual more for coverage (see Chapter 8). HIPAA also limits exclusions for pre-existing conditions and states explicitly that genetic information in the absence of a current diagnosis shall not be considered a pre-existing condition.
A key question in crafting legislative approaches that promote the appropriate use of genomics is whether genetic information should be dealt with separately or as part of measures intended to address health information more broadly. This controversy has important implications for the integration of genomics into public health surveillance activities.
The challenge of defining the term “genetic” is one of the conceptual difficulties arising from genetic exceptionalism—the practice of treating genetic information as different from other kinds of health information and affording it special privacy and security. Theoretically, anything from the results of a DNA test to routine observations about sex, eye color, and blood type could be classified as genetic information. Narrow legislative definitions (e.g., “the results of DNA analysis”) may not achieve desired policy goals, such as protecting individuals from genetic discrimination because they do not apply, for example, to family health history. On the other hand, broad definitions (e.g., “information about genes, gene products, or inherited traits”) may impede important medical and public health activities. Gostin and Hodge (19) present an analysis of the extent to which genetic information is the same as, or different from, other health information and conclude that it is not so different as to legally and ethically justify special status.
Michigan created the Michigan Commission on Genetic Privacy and Progress in 1997 to advise the governor and legislature on specific issues in genetics. In its final report (20), the Commission recommended that any legislation should consider genetics in the context of medical issues as a whole, and thus privacy protections should encompass all confidential medical information. It also recommended limiting legislation to areas in which professional standards and codes of ethics are insufficient to protect the public good and individual rights and avoiding legislation that inappropriately prohibits or hinders beneficial genetic testing and research.
In response to this report, Michigan passed a number of laws that addressed such issues as informed consent before performance of a genetic test (§333.17020), as well as genetic discrimination in employment (§37.1201) and insurance (§500.3407b). In these laws, “genetic test” is defined as “the analysis of human DNA, RNA, chromosomes, and those proteins and metabolites used to detect heritable or somatic disease-related genotypes or karyotypes for clinical purposes,” and “genetic information” is defined as “information about a gene, gene product, or inherited characteristic derived from a genetic test.” These definitions are similar to those suggested by other expert groups (8,21). Michigan does not, however, have laws that afford special privacy protections to genetic information, beyond laws already covering professional-patient interactions, research confidentiality, and general medical privacy. It also does not provide for property rights in genetic samples or information, although patients have rights to access medical information.
Public Health Surveillance
One of the primary functions of public health is public health surveillance. By collecting and analyzing information about disease outbreaks, epidemiologists can determine the likely cause of adverse health events and point the way for prevention and early intervention. As more becomes known about the relation between genetic and environmental factors in the etiology of complex disorders, obtaining genetic information from exposed and affected populations may be important as part of comprehensive public health surveillance. Regardless of whether the addition of genetic information to surveillance activities is considered qualitatively or merely quantitatively different, the issue is whether it is lawful for governmental agents to require the collection of this new information.
Legal challenges to government collection of health information usually involve constitutional claims such as illegal search and seizure, equal protection, and due process (see Chapter 7). Under all of these constitutional theories, the courts balance the public's interest in obtaining the health information against the individual's interest in preventing disclosure. An important consideration is the possible harm to the individual that could result from disclosure of private information. “Though the actual risk of social harm directly caused by surveillance is low, perceived risks (and higher actual threats arising in other settings) can create a context in which public health data collection is politically problematic or resisted by subjects” (22). Reducing public anxiety about disclosure of health information is an inexact enterprise, but the following measures undoubtedly would help:
- Enacting strong health privacy legislation that limits the uses of the information to public health purposes, secures the records from improper access by unauthorized parties, provides that the information must be kept and used in the least identifiable form consistent with public health purposes, and provides severe penalties for violations;
- Educating the public about the existence and provision of such health privacy legislation; and
- Enacting laws that prohibit unreasonable health-based discrimination by private and public sector entities.
The public health community has an important role to play in translating genetic discoveries into opportunities to improve health and prevent disease in ways that maximize the benefits of using genetic information, minimize the risks, and conserve healthcare resources. Law and policy related to public health programs and strategies, human resources, scientific and technical considerations, and consumer and financial interests will be important tools in carrying out this role. Newborn screening, professional licensure, and oversight of genetic tests are examples of areas in which the application of law and genomics already intersect.
Newborn screening for genetic disorders began in the 1960s, made possible by new technology for collecting blood samples and a simple, inexpensive laboratory test to screen for phenylketonuria (PKU). Because PKU screening was slow to become part of routine medical care, children's advocates pressed for state legislation that eventually led to newborn screening in all 50 states and the District of Columbia (23). Statewide screening programs were launched without a full assessment either of the validity of the screening test or of the utility of the dietary intervention to prevent mental retardation in children with PKU. Nevertheless, newborn screening for PKU is now generally acknowledged as a public health success.
Nearly all of the 4 million infants born in the United States each year are screened for PKU and from two to 10 other disorders. State health departments are responsible for carrying out newborn screening as mandated by state laws or regulations. In the absence of federal guidelines, the numbers and types of screening tests performed have varied from state to state and over time as tests have been added and subtracted from state laboratory screening panels (24). This lack of uniformity and the advent of new screening technology (25,26) led the federal Health Resources and Services Administration to ask the American Academy of Pediatrics to form a Newborn Screening Task Force. In August 2000, the Task Force published recommendations that called on federal and state public officials, healthcare providers, and advocacy groups to work together to develop up-to-date guidelines for newborn screening programs while addressing key ethical, legal, and social issues (27,28). These issues include informed consent, the confidentiality of screening results, the use of residual blood samples for research, and the need for heightened public and professional awareness of the capacity and limitations of newborn screening programs.
State policies on parental consent for newborn screening vary widely. Maryland has a voluntary newborn screening program, Wyoming requests informed consent, and Massachusetts has developed an informed consent process for a pilot study of newborn screening for cystic fibrosis (27). In all other states, newborn screening is mandatory, although most states permit parental refusal. The Task Force report recommended that “additional approaches to informing and educating parents be studied further” (27).
Many state programs added newborn screening for sickle cell anemia in the 1980s, drawing renewed attention to the issue of confidentiality of screening test results (29). More recently, the growth of electronic databases for newborn screening and other public health records has added another dimension to this issue (30). Attempts to better coordinate and evaluate infant and child health programs have led to increased integration of information systems that were formerly largely independent. Data linkage and sharing require new methods for safeguarding confidentiality (27).
Residual samples from newborn screening programs have become recognized as a rich resource for research studies. These samples represent a truly population-based “biobank,” which can be used to develop new knowledge by identifying affected persons from medical records and retrieving their stored samples for testing (31). Even without personally identifying information, these samples are useful for population-based genotype frequency studies. However, no general consensus exists on the use of residual newborn screening samples for research. A policy statement published in 1996 outlined some of the issues and presented guidelines (32), but debate on this topic continues.
Ensuring a competent public and personal healthcare workforce is a vital service of public health. Because most health professionals were trained before the advances in genomics brought about by the Human Genome Project, few have the education or experience necessary to participate effectively in this rapidly emerging field. For example, Giardiello and colleagues (33) studied the clinical use of commercial APC gene testing for familial adenomatous polyposis (FAP). They found that only 18.6% of patients received genetic counseling before the test, and only 16.9% provided written informed consent. Physicians misinterpreted the test results in 31.6% of cases, providing patients with false assurance that they did not have FAP when in fact their results were inconclusive.
A number of efforts are ongoing to promote genetic education among clinical (33) and public health (34) professionals. A template of key data elements that should be made available to health professionals about a genetic test, for example in the form of a fact sheet, has also been proposed (35). However, as the number of DNA-based tests proliferate, one area that may receive increasing attention is licensure of genetic counseling professionals—professionals who will aid people in making decisions about genetic testing, as well as help them interpret and respond to the results. The American Board of Genetic Counselors certifies genetic counselors, but medical billing processes typically prohibit reimbursement for unlicenced professionals. Thus, payors are billed for genetic counseling visits according to physician service codes, which are often poor indicators of the service delivered as well as more expensive than if billed directly (36).
The rationale for licensure of genetic counselors is several-fold. First, it may help protect public health and safety by defining the scope of practice, setting minimum standards for qualifications and conduct, and providing mechanisms for continuing education, performance monitoring, and disciplinary action. By restricting use of the title “genetic counselor,” licensure can also protect the public by helping it identify qualified professionals. Second, licensure may increase the supply of trained genetic counselors. Although the rapid commercialization of genetic tests may drive up the need for genetic counselors, actual demand may not equal this perceived need because of reimbursement constraints. Allowing direct reimbursement for genetic counseling services could help reinforce the legitimacy of the profession and attract high-quality candidates to the field. Finally, assuming that supply does in fact increase so that availability is not a barrier, licensure may facilitate access to genetic counseling services through insurance coverage and possibly through reduced costs because physician service codes are avoided.
California became the first state to enact a licensure bill (SB 1364) in September 2000, followed by Utah (SB 59) in March 2001; New York has licensure bills pending (AB2360, SB2471). One important issue for such legislation is: Who is eligible for licensure? In many cases, genetic counseling requires the ability to elicit and interpret family history; provide information about the risks and benefits of genetic testing; interpret and explain results and options; and provide counseling, emotional support, and referral with regard to complex psychosocial issues. The California law calls for licensure of master's level genetic counselors and doctoral level clinical geneticists and restricts use of the title “genetic counselor” to those who have applied for and obtained a license. However, it allows for genetic counseling to be provided by a “physician, a certified advance practice nurse with a genetics specialty, or other appropriately trained licensed health care professional.” This highlights the importance of assuring that all health professionals have an appropriate level of genomics competence.
Licensure may be one important step in meeting the need for qualified genetic counseling professionals. At the same time, genetic counseling is traditionally founded on a “low throughput” model; it is generally a time-intensive, one-on-one process, often oriented toward the analysis of family pedigrees for highly penetrant genetic mutations. Advances in genomics will bring about high throughput genetic testing for multiple, lower penetrance gene variants associated with increased risk for common diseases. A significant need, which public health professionals can help fill, will exist for innovative products using a variety to media to help raise general genomic literacy, as well as educational tools that can be used in primary care and other settings.
Oversight of Genetic Tests
The level of oversight of genetic tests has significant medical, social, ethical, legal, economic, and public policy implications, and the system of oversight can greatly affect individuals who undergo testing, who provide tests, and who develop tests (21). Genetic and nongenetic tests are accorded the same level of oversight, which occurs primarily through the Clinical Laboratory Improvement Amendments (CLIA) (42 C.F.R. 493), the Federal Food, Drug, and Cosmetics Act (21 U.S.C. 301), and during investigational stages, Federal Policy for the Protection of Human Subjects (45 C.F.R. 46, 21 C.F.R. 50 and 56). Most new genetic tests are developed and provided as clinical laboratory services, which are referred to as in-house tests or “home brews.” The Food and Drug Administration (FDA) has indicated that it has legal authority to regulate such tests as medical devices but has elected not to do so as a matter of enforcement discretion, in part because the number of such tests is estimated to exceed the agency's review capacity (37,38). However, the Secretary's Advisory Committee on Genetic Testing (SACGT), chartered in 1998 to advise the U.S. Department of Health and Human Services, has recommended that all new genetic tests be reviewed by FDA before they are used for clinical or public health purposes (21) and is developing additional recommendations to assist the FDA with this review.
SACGT also recommended that CLIA regulations be augmented to provide more specific provisions for ensuring the quality of laboratories conducting genetic tests. CLIA has requirements for certifying laboratories in such areas as cytology and microbiology, but a specialty category of genetics does not currently exist. A revision to CLIA has been proposed that would recognize a genetic testing specialty area and address issues related to accuracy and reliability of test results, informed consent, confidentiality, counseling, and clinical appropriateness (39).
Although these regulations and standards are being developed at a national level, state and local public health programs must be prepared to undertake additional activities to recommend when and how genetic information could be applied to improve health and prevent disease in their own communities. This involves assessing the state's own medical, epidemiologic, and economic data about diseases for which genetic tests are available; the readiness and training of health professionals; the adequacy of state laws to protect the public and ensure access; laboratory proficiency; and infrastructure capacity.
Given the rapidly evolving nature of genetic discovery, almost every issue could be classified as “emerging.” These include the commercialization and patenting of genetic materials, reproductive rights and decision making, human cloning, and genetic modification of food and microorganisms.
One emerging issue that could significantly affect environmental health, drug safety, and risk assessment is toxicogenomics. Toxicogenomics is the study of how genomes respond to environmental stressors. Scientists in this field are using powerful new tools, such as microarray and proteomics technologies, to assess changes in gene expression on a genomewide basis, providing a global perspective about how an organism responds to a specific stress, drug, or toxicant (40). According to the National Center for Toxicogenomics (40), toxicogenomics could help resolve three major scientific problems:
- Understanding biologic responses to environmental stressors, and identifying agents that are a significant risk to human health. Toxicologists rely largely on extrapolation from animal studies when predicting human responses to potential toxins. Toxicogenomics may help scientists gain insights into pathways of toxicity and their mechanisms, leading to better models for extrapolation, fewer animal studies, and faster conclusions.
- Improving exposure assessment. Use of mRNA signatures may make possible identification of the agent (class) and dose to which a person has been exposed. Protein markers could also be used to detect presymptomatic, environmentally induced disease. Thus, surveillance programs could be implemented in humans and animals in areas where exposure and/or contamination are suspected.
- Identifying susceptibility factors that influence an individual's response to environmental agents. This information could be used to predict interindividual variation in response to drugs or environmental toxicants.
These potential outcomes raise several legal issues. First, discussions about genetics and employment often focus on the possibility of employers excluding individuals from employment on the basis of predictive genetic information, for example information about future cancer risk, where the concern is excess healthcare costs. Toxicogenomics presents the possibility that individual risk could be identified before toxic exposure and used to protect worker health (41). Actions that might be taken in response to such information include increased medical monitoring to measure the early effects of exposure, more personal protection equipment or environmental controls to reduce exposure levels, and administrative controls such as limiting exposure times. Thus, the primary discrimination issue arising in these examples is whether the employer could require testing over employee objections. State laws vary on whether employers can lawfully require or even request that an individual take a job-related genetic test.
Another approach used in the beryllium industry (42) is for the employer to pay for the tests, which employees can take on a completely voluntary basis. The results are returned to the employee, who alone decides whether to accept any genetically heightened risk.
A second application of toxicogenomics is in setting environmental health regulations. Standards could differ from one location to the next on the basis of the genotypes of the population in the area, which may be correlated with race or ethnicity. For example, suppose a smelter is located adjacent to an Indian reservation. Also suppose evidence exists that individuals with a certain genetic marker are at increased risk from environmental pollutants, and that marker happens to be present at a very high rate in the members of the tribe. Such a scenario raises a number of questions: To what extent should genetic variation affect environmental standards? Should a new, more restrictive environmental standard be adopted for this particular area? Or should the same restrictive standard apply everywhere? Should individuals be urged to undergo susceptibility testing before locating in a certain area?
A significant challenge for toxicogenomics will be to reconcile the nondirective stance traditionally associated with genetics with the directiveness sometimes found in public health practice. Because of eugenics and other abuses in the first part of the 20th century, geneticists today offer patient-centered services that attempt to respect individual autonomy. By contrast, public health programs often focus on population rather than individual health, and some use governmental power to compel actions to protect health. Therefore, political and public support for integrating genomics into public health policies and programs will depend on accommodating the nondirectiveness that an ethical approach to genomics requires.
Advances in human genetics are expected to revolutionize medicine and public health, leading to new understandings of underlying disease processes—including gene-environment interactions associated with common chronic diseases—and to new avenues for prevention and treatment. Realizing this potential requires the integration of genomics into a wide range of public health research, policy, and practice activities. This integration does not give rise to fundamentally new or different legal challenges than those public health professionals generally encounter; rather, genetic information adds a variable to the already complex interplay between medicine, public health, and health law.
Here we reviewed evolving legal authorities aimed at reducing the misuse of genetic information, including examples of state and federal legislative activities related to insurance and employment discrimination. These activities highlight the need to enact strong measures to protect better the privacy of all health information, while not impeding the core public health function of collecting and deploying information critical to the health of communities. Genetic information is already an integral part of public health practice in the area of newborn screening and, as we move beyond the realm of rare, single-gene disorders, the system of oversight for genetic tests and the need for widespread professional and public education about genomics present challenges for public health practitioners. Issues continue to emerge along with rapid advances in genetics and genetic technology, and these must be addressed as we work to understand the appropriate use of genetic information in medicine, public health, and society.
This project was supported under a cooperative agreement from the Centers for Disease Control and Prevention through the Association of Teachers of Preventive Medicine.
- Collins FS. Shattuck lecture—medical and societal consequences of the Human Genome Project. N Engl J Med 1999;341:28–37.
- Collins FS, McKusick VA. Implications of the Human Genome Project for medical science. JAMA 2001;285:540–4.
- Rothenberg KH. Breast cancer, the genetic “quick fix,” and the Jewish community. Health Matrix J Law-Med 1997;7:97–124.
- National Reference Center for Bioethics Literature. Eugenics—Scope Note 28. Available at http://highschoolbioethics.georgetown.edu/units/cases/unit4_note.html.
- Phoenix DD, Lybrook SM, Trottier RW, Hodgin FC, Crandall LA. Sickle cell screening policies as portent: how will the Human Genome Project affect public sector genetic services? J Natl Med Assoc 1995;87:807–12.
- Billings PR. Human genetic complexity. GeneLetter. May 2001.
- Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG, eds. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: National Academy Press, 1994.
- Holtzman NA, Watson MS, eds. Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Baltimore: Johns Hopkins University Press, 1998.
- American Society of Human Genetics. Statement on informed consent for genetic research. Am J Hum Genet 1996;59:471–4.
- National Bioethics Advisory Commission. Research Involving Human Biological Materials: Ethical Issues and Policy Guidance. Volumes I and II. Rockville, Maryland: National Bioethics Advisory Commission, 1999.
- Lapham EV, Kozma C, Weiss JO. Genetic discrimination: perspectives of consumers. Science 1996;274:621–4. Available at http://www.ncsl.org/default.aspx?tabid=14524.
- American Management Association. Workplace Testing: Medical Testing. A 2000 AMA Survey. Available at http://www.amanet.org/research/summ.htm . (no longer available).
- Hall MA, Rich SS. Laws restricting health insurers' use of genetic information: impact on genetic discrimination. Am J Hum Genet 2000;66:293–307.
- National Archives and Records Administration. Executive Orders Disposition Tables: William J. Clinton—2000. Executive Order No. 13145 To Prohibit Discrimination in Federal Employment Based on Genetic Information. Available at http://www.archives.gov/federal_register/executive_orders/2000.html.
- Equal Opportunity Employment Commission. 2 EEOC Compliance Manual, §§ 902-45 (March 14, 1995), reprinted in Daily Lab Rep 1995 (Mar. 16), at E-1, E-23.
- Sutton v. United Airlines, Inc., 527 U.S. 471 (1999).
- Gottlieb S. US employer agrees to stop genetic testing. BMJ 2001;322:449.
- Gostin LO, Hodge JG. Genetic privacy and the law: an end to genetics exceptionalism. Jurimetrics 1999;40:21–58.
- Michigan Commission on Genetic Privacy and Progress: Final Report and Recommendations, February 1999. Accessed May 22, 2001.
- Secretary's Advisory Committee on Genetic Testing. Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT. Available at http://oba.od.nih.gov/SACGHS/sacghs_documents.html#GHSDOC_009.
- Burris S, Gostin LO, Tress D. Public health surveillance of genetic information: ethical and legal responses to social risk. In: Khoury MJ, Burke W, Thomson EJ, eds. Genetics and Public Health in the 21st Century. New York, NY: Oxford University Press, 2000: 527–46, 535.
- Paul DB. The history of newborn phenylketonuria screening in the U.S. (Appendix 5). In: Holtzman NA, Watson MS, eds. Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Baltimore: Johns Hopkins University Press, 1998.
- National Conference of State Legislatures. Newborn Genetic, Metabolic, and Other Disease Screening. Available at http://www.ncsl.org/programs/health/genetics/screen.htm (Click on “Public User”).
- CDC. Using tandem mass spectrometry for metabolic disease screening among newborns: a report of a work group. MMWR 2001; 50(RR-3):1–34.
- McCabe ERB, McCabe LL. State-of-the-art for DNA technology in newborn screening. Acta Paediatr 1999;Suppl 432:58–60.
- American Academy of Pediatrics. Serving the family from birth to the medical home. Newborn screening: a blueprint for the future—a call for a national agenda on state newborn screening programs. Pediatrics 2000;106(2 Pt 2):389–422.
- Mitka M. Medical news & perspectives: neonatal screening varies by state of birth. JAMA 2000;284:2044–6.
- Andrews LB. Overview of legal issues. Pediatrics 1989;83(5 Pt 2):886–90.
- Goodman KW. Bioethics and health informatics: an introduction. In: Goodman KW, ed. Ethics, Computing and Medicine. Cambridge: Cambridge University Press, 1998:1–31.
- Norgaard -Pedersen B, Simonsen H. Biological specimen banks in neonatal screening. Acta Paediatr 1999;Suppl 432:106–9.
- Therrell BL, Hannon WH, Pass KA, et al. Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: statement of the Council of Regional Networks for Genetic Services. Biochem Mol Med 1996;57:116–24.
- Giardiello FM, Brensinger JD, Petersen GM, et al. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med 1997;336:823–7.
- National Coalition for Health Professional Education in Genetics. Core Competencies in Genetics Essential for All healthcare Professionals. Available at http://www.nchpeg.org/index.php?option=com_content&view=article&id=73:core-competencies&catid=38:slideshow.
- CDC. (b). Genomics competencies for the public health workforce. Available at http://www.cdc.gov/genetics/training/competencies/index.html.
- 65 Federal Register 77631.
- Vance A. Licensing genetic counselors holds promise for higher quality, more cost-effective service for patients. GeneLetter 2000 (Nov.).
- Statement by Mary K. Pendergast, Deputy Commissioner and Senior Advisor to the Commissioner, Food and Drug Administration, Department of Health and Human Services, before the Subcommittee on Technology, Committee on Science, U.S. House of Representatives. September 17, 1996. Available at http://www.hhs.gov/asl/testify/t970508b.html.
- Gutman S. The role of Food and Drug Administration regulation of in vitro diagnostic devices—applications to genetics testing. Clin Chem 1999;45:746–9.
- National Center for Toxicogenomics. NCT Overview—Impact.
- Mohr S, Gochfeld M, Pransky G. Genetically and medically susceptible workers. Occup Med 1999;14:595–611.
- Bartell SM, Ponce RA, Takaro TK, Zerbe RO, Omenn GS, Faustman EM. Risk estimation and value-of-information analysis for three proposed genetic screening programs for chronic beryllium disease prevention. Risk Anal 2000;20:87–99.
Address correspondence to:
Dr. Marta Gwinn
Office of Genomics and Disease Prevention
Centers for Disease Control and Prevention
4770 Buford Hwy, Mail Stop K28
Atlanta, Georgia 30341-3724
- Page last reviewed: January 1, 2002
- Page last updated: December 16, 2010
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