American Journal of Medical Genetics Part C (Semin. Med. Genet.) 125C:66 – 70 (2004) A R T I C L E Ethical Issues Concerning Genetic Testing and Screening in Public Health JAMES G. HODGE, JR.* Genetic testing (predictive analysis that determines genetic alterations in individuals for clinical purposes) and screening (programs that identify persons within a subpopulation who may be at a higher risk for a genetic disease or condition) are increasingly utilized to promote and improve the public’s health. The proliferate use of genetic testing and screening may improve public health outcomes, but it also implicates significant ethical, legal, and social concerns. Within the context of conflicting ethical values from the individual and public health perspectives, individual values such as informed consent and privacy and discrimination protections must be respected. Legal and ethical attempts to exceptionalize genetic tests and information (as compared to other health information) to protect privacy and prevent discrimination are well intended, but can also be unjust and impractical. Respect for individual ethical rights has limits. Principles of public health ethics justify voluntary genetic testing and screening and sharing of data for population-based health purposes. Thus, individual rights should not always trump the use of genetic tests or screening programs (or information derived therefrom) for legitimate public health purposes. ß 2004 Wiley-Liss, Inc. KEY WORDS: genetics; public health; testing; screening; ethics; exceptionalism INTRODUCTION Genetic testing and screening programs are an established part of public health practice and research in the United States and abroad. For decades, U.S. public health authorities have recommended the screening of newborns for specific genetic (and nongenetic) conditions through genetic tests using infant blood samples. Prenatal genetic testing and screening are part of reproductive care in the modern genetic revolution. Genetic testing and screening in the delivery of other health services or for occupational purposes [Shulte and DeBord, 2000] are increasingly utilized [Gostin et al., 2001]. James G. Hodge, Jr., JD, LLM, is the deputy director of the Center for Law and the Public’s Health at Georgetown and Johns Hopkins Universities; assistant public health professor, Johns Hopkins Bloomberg School of Public Health; and a faculty member, Georgetown University Law Center. Professor Hodge formerly served as project director of an NIH-funded effort to study legal and ethical issues at the intersection of genetics, ethics, and the law. *Correspondence to: James G. Hodge, Jr., Center for Law and the Public’s Health, Johns Hopkins Bloomberg School of Public Health, Hampton House, Room 527A, 624 N. Broadway, Baltimore, MD 21205. E-mail: email@example.com DOI 10.1002/ajmg.c.30005 ß 2004 Wiley-Liss, Inc. Genetic testing and screening further public health goals of preventing and treating diseases in the population in many ways. Information gleaned from these programs helps public health practitioners and researchers understand the role genes play together with environmental and behavioral influences in the onset of diseases. Targeted screening efforts assist public health officials in identifying specific genetic conditions that affect subgroups or persons. Inexpensive and effective treatments (when available) can be provided to improve the collective health of the population. Genetic testing and screening may facilitate population research on the clinical validity and utility of genetic-based treatments [Khoury, 2000]. Proliferate uses of genetic testing and screening may help to improve public health outcomes, but they simultaneously raise significant ethical, legal, and social concerns. Should genetic tests or screening ever be allowed without individual informed consent? Should genetic screening be performed for every condition for which a reliable and accurate test is available? Should genetic testing or screening programs be mandatory (required) or voluntary (optional)? How can public health authorities or others acquire, use, or disclose sensitive genetic test results without violating individual and group privacy rights? Is genetic information derived from tests ‘‘exceptional’’ or somehow different from other health data, and thus deserving of enhanced privacy protections? These and other ethical issues are examined below within a framework of differing standards of individual and community ethics. GENETIC TESTING AND SCREENING: SIMILARITIES AND DISTINCTIONS Though often used interchangeably, genetic testing and screening are different. Genetic testing refers to predictive analysis to determine the presence or absence of a genetic disease, condition, or marker in individual patients for clinical purposes [Gostin, 2000]. Genetic tests involve the direct examination of chromosomes, DNA, RNA, or proteins ARTICLE for alterations. These tests can (1) confirm a diagnosis for a symptomatic individual, (2) assist with presymptomatic diagnosis (e.g., Huntington disease) or assessment of the risk of developing adult-onset disorders (e.g., Alzheimer disease), (3) identify carriers of a diseaselinked gene (helpful for reproductive purposes), and (4) aid in prenatal diagnosis and newborn screening. Hundreds of genetic tests are currently available to predict diseases in individuals and the population [SAGCT, 2000]. Despite great potential, genetic tests are limited in their ability to predict many diseases. A genetic test may not be able to identify every alteration of a gene (which can have mutations in hundreds of places along its base pairs) and thus may not reveal an abnormality. 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 may not accurately gauge an individual’s susceptibility for multifactorial causes of mortality-like heart disease. Thus, even positive genetic test results must be closely examined and interpreted. Screening generally denotes the systematic application of a test to a defined population [Gostin, 2000]. Genetic screening refers to programs designed to identify persons within a subpopulation whose genotypes suggest they or their offspring are at a higher risk for a genetic disease or condition. Thus, where genetic tests are used to reveal particular propensities among individuals, genetic screening programs use genetic tests (or other techniques) to identify rates of genetic diseases or conditions among subpopulations, and sometimes can uncover previously unknown or unrecognized conditions. Some public health screening programs are mandatory: persons must participate in the screening program unless they opt out (where allowed) for religious, philosophical, or other reasons. Many screening programs, however, are voluntary. Persons may choose (or opt in) to participate, but do not have to. A prominent example of genetic screening is the long-standing public AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.) health practice of screening newborns for genetic conditions. Most states require the screening of infants for treatable genetic disorders, particularly phenylketonuria (PKU), subject to parental refusal on religious or philosophical grounds [New York State Task Force on Life and the Law, 2000]. Other examples of genetic screening in the delivery of preventive clinical care may collectively help to improve the health of populations. They include (1) screening at-risk women for genetically related breast cancers; (2) screening for chromosome abnormalities in preimplantation embryos conceived through assisted reproductive technologies to higher-risk couples; (3) hemachromatosis screening in adults; (4) preconceptional or prenatal carrier screening for Tay-Sachs, cystic fibrosis, or sickle cell disease; and (5) prenatal testing to detect Down syndrome in higher-risk pregnancies. The utilization of genetic tests and screening for public health purposes is complicated. Less accurate genetic tests may still be helpful for diagnosis in individual settings, but can lead to low predictive values when incorporated into a genetic screening program. Significant numbers of test results that are false positive (healthy persons who are wrongfully determined to be affected by a genetic disease or condition) and false negative (persons who are actually affected go undetected) may result. Genetic screenings for sickle cell anemia among African-Americans in the 1970s revealed potential discrimination that may follow a public health screening program [New York State Task Force on Life and the Law, 2000]. Beyond their harm to individuals, genetic screening programs that are poorly administered or ill designed present minimal or no improvement in public health outcomes, and may result in improper use of limited public health resources. 67 ETHICAL CONCERNS Ethical issues pervade any public health strategy involving genetic tests or screening.Underlying each of these ethical Key ethical issues include the extent of individual informed consent, the design and application of genetic screening and testing, privacy and discrimination concerns, and genetic exceptionalism. issues are differing perspectives of individual and public health ethics. Bioethics and Public Health Ethics Principles of bioethics largely focus on the rights of individuals. Individuals are entitled to a sphere of autonomy, are owed fair and equitable treatment, and must not be harmed intentionally. These rights inhere in each person. Each person is responsible for respecting others’ rights. Protection of individual rights is critical in public health practice that increasingly stresses an ethic of voluntarism. Improving communal health and respecting individual rights are often synergistic, but may be at odds. At times, persons may be required to act or contribute to larger community goals in ways that may infringe their individual rights. Primary justification for infringements of individual ethics in the interests of public health is found in public health ethics. Unlike bioethics, public health ethics focuses largely on the health of communities [Public Health Leadership Society, 2002]. For example, screening infants for genetic diseases involves testing the children’s blood. The resulting infringement on the parent’s autonomy and decision making under this scenario may be minimal, but the public health impact can be extraordinary. This infringement may be completely justifiable 68 AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.) under public health ethics that envision individuals as members of society with certain communal goals. Many bioethicists perceive conflicts between individual ethical rights and public health ethics. They may view public health programs or efforts as interfering with individual decision making, bodily integrity, and other protected interests. Sometimes, however, Ideally, public health programs consider individual ethical rights to promote participation. it is not possible to fulfill the ethical interests of individuals and accomplish legitimate public health goals. Consider, for example, allowing persons to deny public health authorities access to their diagnoses of genetic disease to effectively monitor genetic diseases. An individual’s claim of a breach of privacy rights could trump the community’s goal of screening genetic diseases in the population. Public health ethics support participation in public health programs even where some infringement of individual rights may follow. This analysis provides an apt framework for considering additional ethical issues below. Individual Informed Consent Principles of autonomy strongly support an individual’s right to informed consent prior to genetic testing or screening. Many law and policymakers, particularly at the state level, have passed legislation or created administrative regulations in the last decade to require specific, written informed consent [Gostin et al., 2001]. Prior to 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 appreciable risks involved in the testing or activities following a positive result. Through advance informed consent, patients can weigh the benefits of genetic testing against the risks. However, misunderstanding of complex genetic science and uncertainties in the meaning of test results can blur the value of informed consent [Press and Clayton, 2000]. People may 1) not understand their test results because of the complex interaction of genes and environmental components that lead to diseases, 2) lack the ability to provide effective informed consent where they lack such understanding or feel coerced to provide consent to further their medical treatment, or 3) lack resources or information to help resolve their uncertainties. States like California recommend genetic counseling to improve individual comprehension, and thus enhance informed consent [Gostin et al., 2001]. Should genetic tests ever be allowed without informed consent? Public health officials may justify mandatory newborn screening programs, even without parental consent, under utilitarian legal principles authorizing the state to protect children. However, at least concerning autonomous individuals, there is little justification to mandate genetic testing or screening without informed consent. When Should Genetic Screening Be Performed? One of the clear criteria for the performance of genetic screening is the availability of accurate genetic tests. Other key considerations include (1) whether an at-risk population can be determined for targeted screening; (2) what method(s) of screening should be used, whether mandatory (required) or voluntary (optional); (3) who has access to the screening program [Lin-Fu and Lloyd-Puryear, 2000]; (4) whether there exists an effective and affordable treatment for the condition being screened; (5) whether the screening program is well tailored to accomplish public health goals [Gostin and Hodge, 1999]; and (6) whether the public actually needs and is willing to accept the screening program [National Academy of Sciences, 1975]. ARTICLE Each of these criteria is important. If the screening program targets too large of a group, and is thus overinclusive, persons may unjustifiably be asked or required to participate without any individual or public health benefit. Public health ethics would not support resulting breaches of individual privacy where no public health goal can be achieved. If the method of screening is mandatory, individual autonomy can be unfairly breached. Where 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 the genetic condition, there may not be a valid reason to screen anyone for the condition. Without public acceptance, a genetic screening program may lack political support and corresponding funding. Privacy and Discrimination Many persons view their genetic information as highly sensitive and take affirmative measures to protect its privacy [Georgetown University, 2001; Husted and Goldman, 2002]. Individuals are concerned about the privacy of their genetic data because unauthorized uses or disclosures can lead to invidious discrimination on an individual or group basis through insurers, employers, government agencies, and others [Hodge and Harris, 2001]. Health, life, and disability insurers may seek to use genetic test results to limit or deny coverage. Employers may reject positions or advancement to applicants based on their genetic flaws [Gostin et al., 2001]. Many states have passed specific genetic privacy laws based on protecting genetic information from unauthorized uses or disclosures, or limiting the performance of genetic tests to persons who have provided their specific informed consent [Gostin et al., 2001]. The federal Department of Health and Human Services has implemented national health information privacy regulations pursuant to the Health Insurance Portability and Accountability Act of 1996 (HIPAA), which includes genetic data [Centers for Disease Control and Pre- ARTICLE vention, 2003]. Congress has previously and is presently considering geneticspecific privacy legislation. Though important, individual privacy interests in genetic information are not absolute. Others may have a right to know about an individual’s genetic profile. Spouses, offspring, and close family members may claim a right to share in the knowledge of an individual’s genetic test results. State courts in Florida and New Jersey have suggested health care workers may be obligated to share genetic tests results with blood relatives of their patients under certain circumstances [Gostin and Hodge, 1999]. Public health officials conducting surveillance or health researchers performing longitudinal genetic studies may also have legitimate claims to access an individual’s genetic data. Such individual or communal needs for individual genetic information may be supported by normative principles of beneficence or justice, or utilitarian ideals, but can impinge the privacy rights of individuals participating in public health genetic screening programs. As a result, individual interests in protecting their genetic information are constantly balanced with society’s interests in limited uses of such data for public health purposes. Genetic Exceptionalism As mentioned above, individual privacy and antidiscrimination concerns relating to genetic testing have led many states to adopt genetic-specific privacy and antidiscrimination laws to protect persons from wrongful acquisitions, uses, or disclosures 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, 1999]. AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.) Concerning 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 sufficiently unique to garner special protections. Many believe that genetic information is different from other health data for several reasons. Foremost among these is the predictive nature of genetic data. Unlike most other medical records that describe an individual’s past or current health condition, genetic tests can identify (with varying degrees of confidence) increased risks of future diseases in otherwise healthy individuals. Genetic information is perceived as different for other reasons: (1) it remains largely stable throughout life; (2) genetic fingerprints are remarkably identifiable; (3) genetic conditions are inherited, and thus genetic information can reveal information about an individual’s current family members and future offspring; and (4) genetic information can transcend health status to reveal predispositions and personal characteristics [Gostin et al., 2001]. There are, however, 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 more medical conditions are linked to gene-based causes, it becomes increasingly difficult to distinguish genetic data from other medical data. In reality, genetic information is part of the continuum of an individual’s medical record and cannot easily be separated. Some privacy advocates argue that genetic information is more sensitive than other health information because it can pro- 69 vide significantly more personal information about an individua’s existing and future medical conditions. However, nongenetic health records may provide many personal details. Health records include private demographic, financial, and family history information as well as a patient’s social, behavioral, and environmental factors [Gostin and Hodge, 1999]. Genetic-specific statutes may be considered unfair because they treat people who face the same social risks differently based on 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., BRCA 1 or 2) be given greater protection than a woman who has developed breast cancer because of environmental or behavioral factors (e.g., smoking) [Rothstein, 1998]? On a practical level, treating genetics 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 misapprehensions about genetics that may discourage individuals from seeking testing or participating in screening programs, and thwart future scientific progress. Some scholars and policymakers have concluded that a legislative and policy trend toward genetics exceptionalism is ill advised for these reasons [Gostin and Hodge, 1999]. Rather, policymakers should focus on uniformly protecting the privacy and security of all forms of health data, including genetic information, so as to effectively respect 70 AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.) individual sensitivities to specific health data. The HIPAA Privacy Rule attempts to protect health information broadly, but only provides a floor of federal protections, leaving state genetics laws that provide greater protections in place [Centers for Disease Control and Prevention, 2003]. The result is a patchwork of exceptional genetic privacy standards that vary from state to state. as other information within their health records. Existing privacy approaches to protecting genetic data, or health information more broadly, fail to eliminate an exceptional approach. Ultimately, responsible and ethical choices about the use of genetic tests and the administration of genetic screening in the population promote the public’s health. CONCLUSION REFERENCES While potential public health benefits of genetic testing and screening support their existing and future uses, underlying risks to individuals and populations require awareness and responsibility. 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