IV. PUBLIC HEALTH CONTEXT

Genetic testing and screening programs have long been part of public health programs in the United States. For decades public health authorities have recommended the screening of newborns for specific genetic (and nongenetic) conditions through genetic tests that use blood samples from infants. Neonatal genetic testing and screening increasingly are becoming part of public health practice in the modern genetic revolution. Genetic testing and screening in the delivery of health services and for occupational purposes (Shulte and DeBord) are becoming more common despite legal impediments.

The proliferation of genetic testing and screening in the interests of protecting public health may help improve health outcomes on a population basis, but it simultaneously raises significant legal, social, and ethical concerns. When should genetic tests be allowed without informed consent? Should genetic screening be allowed for every condition for which a reliable and accurate test is available? When should genetic screening programs be mandatory (required) or voluntary (optional)? How can public health authorities or others acquire, use, or disclose sensitive genetic test results? These and other ethical issues are discussed in this entry in the context of the classic debate between individual rights and the goal of protecting the public's health.

Genetic Testing and Screening: Similarities and Distinctions

Though often used interchangeably, genetic testing and screening are different concepts. Genetic testing refers to medical procedures that determine the presence or absence of a genetic disease, condition, or marker in individual patients (Gostin). Genetic tests involve an examination of chromosomes, DNA molecules, or gene products (such as proteins) to find evidence of certain mutated sequences. Genetic tests can (1) confirm a diagnosis for a symptomatic individual, (2) assist with presymptomatic diagnosis (e.g., Huntington's disease) or assessment of the risk of development of adult-onset disorders (e.g., Alzheimer's disease), (3) identify carriers of one copy of a gene for a disease in which two copies are needed for the disease to be expressed, and (4) aid in prenatal diagnosis and newborn screening. Hundreds of genetic tests are available to predict diseases in individuals and the population (Secretary's Advisory Committee on Genetic Testing [SAGCT]). Many others are being developed.

Despite their great potential, technical limitations to genetic tests can inhibit the prediction of disease in individuals. A genetic test may not be able to identify every mutation of a gene (which can have mutations in several places along its base pairs) and thus may not indicate an abnormality. Different mutations in a gene have different effects. The cystic fibrosis gene, for instance, has 800 potential mutations with varied effects on health (SACGT). In addition, genetic tests do not measure the complex interactions between genes and environment that contribute to the onset of almost all diseases. As a result, a genetic test is limited in its ability to gauge an individual's susceptibility to causes of mortality such as heart disease accurately.

Screening entails the systematic application of a test to a defined population (Gostin). Genetic screening refers to programs designed to identify persons in a subpopulation whose genotypes suggest that they or their offspring are at higher risk for a genetic disease or condition. In many cases this requires the administration of genetic tests, as defined above. Thus, whereas genetic tests are used to reveal specific propensities among individuals, genetic screening programs help identify rates of genetic diseases or conditions among subpopulations and sometimes can uncover previously unknown or unrecognized conditions. The nature and scope of genetic screening programs vary. Some screening programs are mandatory: Persons must participate in a screening program unless they opt out (where allowed) for religious, philosophical, or other reasons. Most screening programs, however, are voluntary. Persons may choose to participate (opt in) but do not have to.

There are many examples of genetic screening for public health purposes. Women may be screened for genetically related breast cancers. Persons may participate in prenatal genetic screening programs to determine genetic disorders in embryos before implantation. Obstetricians may advise pregnant women in higher-risk groups about specific genetic tests. Fetal karyotyping, for example, can suggest an increased likelihood of carrying a fetus with Down's syndrome among older women. Screenings for conditions such as Tay-Sachs disease and cystic fibrosis are available. Perhaps the most prominent example of genetic screening among a subpopulation is the long-standing public health practice of screening newborns for genetic conditions. Most states require the screening of infants for treatable genetic disorders, particularly phenylketonuria (PKU), subject to refusal on religious or philosophical grounds (New York State Task Force on Life and the Law). Some statutes deem newborn screening voluntary, although in practice it almost always is done in the interest of protecting an infant's health.

Genetics and Public Health

Genetic testing and screening further public health goals of preventing and treating diseases in the population in many ways. Because many diseases and conditions result from interaction among genes, behavior, and environment, understanding the role genes play in contributing to diseases clarifies the ways in which environmental and behavioral influences may lead to the onset of diseases. With this knowledge public health professionals can shape their assessment, policy development, and assurance techniques more effectively. Public health professionals can promote the use of genetic tests and services when inexpensive and effective treatments are available to advance the collective health of the population. An example mentioned involves newborn screening programs, which are expanding in scope as new genetic causes and treatments of disorders are discovered.

Genetic testing and screening for multifactoral conditions such as cancer may allow susceptible persons to change their behaviors and environment, thus improving public health. Public health officials may be best equipped to conduct population research to evaluate the clinical validity and utility of genetic testing and screening. Also, those officials can play a substantial role in the dissemination of information to medical professionals and the public about the role of genetics in health (Gostin, Hodge, and Calvo).

The use of genetic tests and screening for public health purposes, however, can be problematic. Genetic tests that have high rates of inaccuracy can lead to low predictive values when they are incorporated into a genetic screening program. Significant numbers of tests results that are false positive (healthy persons are wrongly determined to be affected by a genetic disease or condition) and false negative (persons who are affected go undetected) can follow. Experience with genetic screening for sickle-cell anemia among African-Americans in the 1970s demonstrated the potential discrimination that may follow a public health screening program (New York State Task Force on Life and the Law). Beyond obvious individual harms, genetic screening programs that are not scientifically sound or justifiable on societal grounds have little utility in public health. With limited resources for preventive public health measures, genetic screening programs that produce small yields (the number of newly recognized cases derived from the screening) as a result of inaccurate testing or other failures can compromise public health goals. Stated simply, poorly administered or poorly designed genetic screening programs that use inaccurate tests or insufficiently target at-risk populations negatively affect individuals and result in minimal or no improvement in public health.

Ethical Concerns

Ethical issues pervade any public health strategy involving genetic tests or screening. This section examines some of the key ethical issues concerning individual informed consent, the design and application of genetic screening and testing, and privacy and discrimination. These and other issues are explored in the context of the sometimes divergent views of public health and individual ethical theories discussed below.

BIOETHICS AND PUBLIC HEALTH ETHICS. Ethical questions arising from genetic testing and screening in the context of public health require an understanding of the differing perspectives of individual and public health ethics. Principles of bioethics largely have an individualistic focus. Persons as individuals are entitled to autonomy, are owed fair and equitable treatment, and must not be harmed intentionally. These rights inhere in each person and, consequently, are owed to each person. Principles of public health ethics do not abandon this individualistic approach. Protection of individual rights is critical in public health practice that increasingly stresses an ethic of voluntarism.

In contrast, public health is focused on the health of communities. Protecting the health of communities sometimes may require individuals to act or contribute to the larger community goals. For example, screening infants for genetic diseases requires parents to allow their children's blood to be tested. The resulting infringement on individual autonomy and decision making under this scenario may be minimal, but the impact on public health can be extraordinary. Public health authorities suggest that this infringement is completely justifiable under a public health ethical framework that envisions individuals as members of society with certain communal goals.

Many bioethicists often perceive a conflict between individual ethical rights and duties and public health ethics. Public health programs and efforts seemingly interfere with individual decision making, bodily integrity, and other protected interests. Ideally, public health programs incorporate the ethical rights of individuals to promote individual participation, which is essential to accomplishing many communal health goals. Sometimes it is not possible to respect the ethical interests of individuals and accomplish legitimate public health goals. For example, it is problematic to allow persons to deny public health authorities access to their diagnoses of genetic disease, which the authorities need to conduct effective surveillance. The individual's claim of a breach of privacy rights under principles of autonomy could trump the community's goal of monitoring disease among the population. Public health ethics suggests that persons participate in public health measures even when some infringement of their individual rights may follow. This analysis provides an appropriate framework for considering the ethical issues discussed below.

INDIVIDUAL INFORMED CONSENT. Principles of autonomy strongly support the individual's right to informed consent before genetic testing or screening. Many law and policy makers, particularly at the state level, have passed legislation or created administrative regulations in the last decade that require specific, written informed consent (sometimes including genetic counseling). Before the administration of a test patients are entitled to explanations of the nature and scope of the information to be gathered, the meaning of positive test results, the underlying disease or condition, and any risks involved in the testing or activities that follow a positive result. Through advance informed consent it is hoped that patients can weigh the benefits of genetic testing against the risks. However, problems in understanding the complexities of genetic science and uncertainties in the meaning of positive test results can limit the value of informed consent (Press and Clayton).

Should genetic tests ever be allowed without informed consent? Public health officials may justify mandatory newborn screening programs without parental consent by reference to utilitarianism and corresponding legal principles that authorize the state to protect children. However, at least in regard to autonomous individuals, there is little justification to mandate genetic testing or screening without informed consent.

WHEN SHOULD GENETIC SCREENING BE PERFORMED? Although genetic screening may be enhanced through the use of accurate tests, there are other key considerations, including determining (1) the at-risk population to be targeted for screening, (2) the method or methods of screening, whether mandatory (required) or voluntary (optional),(3) the persons who have access to the screening program (Lin-Fu and Lloyd-Puryear), (4) whether there is an effective and affordable treatment for the condition being screened,(5) the corresponding benefits to individuals of screening in cases in which treatment is lacking, and (6) whether the screening program is well tailored to accomplish the under-lying public health goals.

Each of these criteria underlying the implementation of a genetic screening program is critical. If the screening program targets too large a group and is thus over-inclusive, persons may unjustifiably be asked or required to participate without any individual or public health benefit. If the screening is mandatory, individual autonomy can be breached unfairly. In cases in which persons lack access to testing services, they are unfairly left out of a public health program designed to improve communal health. If there is no effective treatment for a genetic condition, is there a valid reason to screen anyone for it? Many public health officials would suggest that there is not.

PRIVACY AND DISCRIMINATION. Many persons view their genetic information as highly sensitive and take affirmative measures to protect the privacy of that information. According to Georgetown University's Health Privacy Project (2001), over 15 percent of people engage in privacy-protective behaviors (e.g., withholding information, providing inaccurate information, doctor hopping, or avoiding care) to shield themselves from misuse of their health information. Individuals are concerned about the privacy of their genetic data because breaches can lead to invidious discrimination against an individual or group (Hodge and Harris) by insurers, employers, government agencies, and other societal members. Health, life, and disability insurers may attempt to use genetic test results to limit or deny coverage. Employers may reject applicants for positions or advancement on the basis of their genetic flaws (Gostin, Hodge, and Calvo).

Complicating the privacy claims of individuals, however, are the legitimate claims of others who have a right to know about another person's genetic profile. Spouses, offspring, and close family members may claim a right to obtain knowledge of an individual's genetic test results. State courts in Florida and New Jersey have suggested that healthcare workers may be obligated to share the results of genetic tests with blood relatives of their patients in certain circumstances. Right-to-know claims may further principles of beneficence but can impinge on the privacy rights of individuals participating in public health genetic screening programs.

GENETIC EXCEPTIONALISM. Individual privacy and antidiscrimination concerns relating to genetic testing have led many states to adopt genetic-specific privacy and antidiscrimination laws that are intended to protect persons from wrongful acquisition, use, or disclosure of individually identifiable genetic data. These laws treat genetic information differently from other medical or personally identifiable information and typically establish heightened protections (Gostin and Hodge). Within the context of public health uses of genetic testing or screening programs the trend toward genetic exceptionalism presents its own ethical and practical concerns.

Genetic exceptionalism suggests that genetic information is unique. Many people believe that genetic information is different from other health data for several reasons. Foremost among those reasons is its predictive nature. Unlike most other medical records, which describe an individual's past or current health condition, genetic tests can identify (with varying degrees of confidence) the increased risk of future disease in otherwise healthy individuals. Other qualities add to the perception that genetic information is different. It remains largely stable throughout life. Genetic footprints are remarkably identifiable. Genetic conditions are inherited, and this means that genetic information necessarily reveals information about an individual's current family members and future offspring. Finally, although genetic tests are limited in their capabilities, genetic information can transcend health status to reveal predispositions and personal characteristics (Gostin, Hodge, and Calvo).

There are drawbacks to treating genetic information differently. Strict protection of autonomy, privacy, and equal treatment of people with genetic conditions may threaten the accomplishment of communal goods, including public health surveillance. As scientists discover more medical conditions that are gene-based, it will become increasingly difficult to distinguish genetic data from other medical data. Genetic information is part of the continuum of an individual's medical record and cannot be separated from those data easily. Some privacy advocates argue that genetic information is more sensitive than other health information because it can provide significantly more personal information about an individual's existing and future medical conditions. However, nongenetic electronic health records also may provide many personal details. Electronic health records include private demographic, financial, and family history information as well as a patient's social, behavioral, and environmental factors (Gostin and Hodge).

Genetic-specific statutes may be considered unfair because they treat people who are facing the same social risks differently on the basis of the biological cause of their otherwise identical health conditions. Why, for example, should medical information about a woman who has developed breast cancer of genetic origin (e.g., BRACA 1 or 2) be given greater protection than information about a woman who has developed breast cancer because of environmental or behavioral factors such as smoking (Rothstein)?

On a practical level, treating genetic diseases as distinct from other medical diseases or conditions may enhance the stigma of genetic testing and screening programs even as lawmakers attempt to remove their stigmatizing effects. This can create public fears and misapprehension about genetics that may discourage individuals from seeking testing or participating in screening programs and may thwart future scientific progress.

Conclusion

The public health benefits of genetic testing and screening support their existing and future uses in the population, yet the underlying risks to individuals and populations require caution and awareness. Ethical issues related to the administration of testing and screening with informed consent, the privacy rights of individuals, and concerns about discrimination cannot be resolved easily. Balancing individual rights with the community's interests in promoting public health requires an understanding of the sometimes divergent positions of bioethics and public health ethics. Exceptionalizing protection of individual rights that are based on distinctions of genetic tests or information from other health data is difficult. Ultimately, choices about the use of genetic tests and the administration of genetic screening in the population must be made collectively in the interests of promoting improvements in public health.

james g. hodge, jr.

SEE ALSO: AIDS; Autonomy; Confidentiality; Genetic Counseling, Ethical Issues in; Genetic Counseling, Practice of; Holocaust; Informed Consent; Public Health; Public Health Law; Public Policy and Bioethics; Race and Racism;Utilitarianism; and other Genetic Testing and Screening subentries

BIBLIOGRAPHY

Gostin, Lawrence O. 2000. Public Health Law: Power, Duty, Restraint. Berkeley: University of California Press.

Gostin, Lawrence O., and Hodge, James G. 1999. "Genetic Privacy and the Law: An End to Genetics Exceptionalism." Jurimetrics: The Journal of Law, Science, and Technology 40: 21–58.

Gostin, Lawrence O.; Hodge, James G.; and Calvo, Cheye M. 2001. Genetics Law and Policy: A Review. Denver, CO: National Conference of State Legislatures.

Hodge, James G., and Harris, Mark E. 2001. "International Genetics Research and Issues of Group Privacy." Journal of Bio Law and Business Special Supplement: Global Genomics: 15–21.

Lin-Fu, Jane S., and Lloyd-Puryear, Michele. 2000. "Access to Genetic Services in the United States: A Challenge to Genetics in Public Health." In Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease, ed. Muin J. Khoury, Wylie Burke, and Elizabeth J. Thomson. New York: Oxford University Press.

New York State Task Force on Life and the Law. 2000. Genetic Testing and Screening in the Age of Genomic Medicine. New York: Author.

Press, Nancy, and Clayton, Ellen Wright. 2000. "Genetics and Public Health: Informed Consent beyond the Clinical Encounter." In Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease, ed. Muin J. Khoury, Wylie Burke, and Elizabeth J. Thomson. New York: Oxford University Press.

Rothstein, Mark R. 1998. "Genetic Privacy and Confidentiality: Why They Are So Hard to Protect." Journal of Law, Medicine and Ethics 26: 198.

Secretary's Advisory Committee on Genetic Testing. 2000. Enhancing the Oversight of Genetic Tests: Recommendations of the SAGCT. Bethesda, MD: Author.

Shulte, Paul A., and DeBord, D. Gayle. 2000. "Public Health Assessment of Genetic Information in the Occupational Setting." In Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease, ed. Muin J. Khoury, Wylie Burke, and Elizabeth J. Thomson. New York: Oxford University Press.

INTERNET RESOURCES

Centers for Disease Control and Prevention Office of Genetics and Disease Prevention. 2003. Available from <http://www.cdc.gov/genomics/default.htm>.

Georgetown University Health Privacy Project. 2001. Landmark Health Privacy Law Issued by Clinton Administration. Available from <http//www.healthprivacy.org>.