The complete sequencing of the human genome in 2003 brings with it new approaches to the diagnosis and treatment of rare and common diseases. As noted in the November 2005 Genomic National Human Genome Research Policy Roundtable Summary:

Genomic medicine is a powerful way to tailor health care at the individual level by using patients' genomic information. By identifying the genetic factors associated with disease, it is possible to design more effective drugs; to prescribe the best treatment for each patient; to identify and monitor individuals at high risk from disease; and to avoid adverse drug reactions (National Human Genome Research Institute, 2005).

One of the National Human Genome Research goals therefore is to “enhance health care through the integration of genomic medicine into mainstream medical practice” (National Human Genome Research Institute, 2005).

New genomic discoveries and their applications bring great hope for a more personalized approach to treat disease. The field of genetics, until recently, has focused on rare, single-gene diseases, such as muscular dystrophy. However, a new field of research, called genomics, which is the “study of all the genes in the human genome together, including their interactions with each other, the environment, and the influence of other psychosocial and cultural factors” (American Nurses Association, 2006 p. 9) has emerged. Genetics has evolved to encompass the impact of a person’s entire genome, environmental factors, and their combined effects on health. This evolution is creating new, gene-based technologies for the screening, prevention, diagnosis, and treatment of both rare and common diseases, such as cancer, diabetes, heart disease, and stroke. New genomic discoveries and their applications bring great hope for a more personalized approach to treat disease. This new approach is called “personalized medicine.” Clinicians are beginning to move away from the “one size fits all” approach to diagnosis and treatment of common and rare diseases (National Human Genome Research Institute, 2007).

Although these new directions raise hopes for disease prevention and treatment, they also bring challenging ethical issues to patients and healthcare providers alike (See Table 1). The United States (U.S.) National Institutes of Health (NIH) and the U.S. Department of Energy (DOE) recognized the potential for ethical challenges in genetic and genomic research early on. They had the foresight to devote 3% - 5% of their annual Human Genome Project (HGP) budget towards studying the ethical, legal, and social issues (ELSI) related to the availability of genetic information. This is the world’s largest bioethics program, and it has become a model for ELSI programs worldwide (National Human Genome Research Institute, 2007). Table 2 presents ELSI research areas identified as “grand challenges” for the future of genomic research.

Nurses are at the forefront of patient care, and will participate fully in genetic-based and genomic-based practice activities, such as collecting family history, obtaining informed consent for genetic testing, and administering gene-based therapies. Nurses are at the forefront of patient care, and will participate fully in genetic-based and genomic-based practice activities, such as collecting family history, obtaining informed consent for genetic testing, and administering gene-based therapies. Nurses will therefore have a critical role advocating for, educating, counseling, and supporting patients and families who are making gene-based healthcare decisions (Cassells, Jenkins, Lea, Calzone, & Johnson, 2003). Nurses will need to be able to effectively translate genetic and genomic information to their patients with an understanding of associated ethical issues. This new direction in healthcare calls for nurses to integrate into their scope of practice the emerging field of genetics and genomics. The increased availability of personal genetic information also challenges nurses to understand the ethical issues associated with activities such as informed decision making, informed consent and genetic testing, genetic and genomic research testing protection, maintaining privacy and confidentiality of genetic information, preventing genetic discrimination, and strengthening genetic and genomic care around the world.

This article will provide an overview of the above six activities associated with genetic and genomic healthcare in which nurses are involved and a discussion of the ethical issues inherent in each of these activities. For each activity discussed, an overview of current and/or emerging ethical issues will be presented. Approaches nurses can use to integrate comprehensive and current knowledge regarding genetics and genomics into their practice to most fully meet the needs of their patients, families, and society will also be described.

Informed Decision Making

Informed decision making and associated consent involve working to be as sure as possible that the individual understands the nature, risks, and benefits of the procedure, and that the individual gives consent without coercion (American Nurses Association, 2001; Skirton, Patch, & Williams, 2005). Genetic and genomic research is creating new areas for nursing involvement in the informed, decision-making process. As Skirton et al. pointed out, the increasing availability of genetic information and technology means that patients and families will be learning more about their genetic identity and beliefs related to this identity. The implication for nurses is that they will increasingly be involved in discussing these issues with patients in all areas of healthcare during the process of obtaining consent. Areas of informed decision making and consent in which nurses will be most involved include gathering family history and requesting medical information. Each will be discussed in turn.

Gathering Family History

Nurses practicing in primary healthcare settings and specialty care, such as oncology, will continue to be involved in obtaining and reviewing patient family histories. In doing this the nurse can explain the nature and purpose for gathering family history before seeking the patient’s verbal consent for this process. When family history is needed for other family members, the nurse promotes confidentiality by gathering family history again from additional family members.

Requesting Medical Information

Nurses in all practice settings may be involved in requesting medical information from patients and their relatives. When it is necessary to request information from the patient, it is important that the nurse explain the need to request the patient’s medical information and records so that the most accurate medical information can be obtained and appropriate recommendations can be made. There may be situations where it is necessary to collect medical information from the patient’s family members. In these cases the nurse can explain this need and the process to the family members and facilitate their written consent for the release of their medical information.

Informed Consent and Genetic Testing

The use of genetic testing from pre-conception through adulthood is expanding rapidly. Genetic testing is increasingly used across the life continuum for screening, diagnosis, and determining the best treatment of diseases. Obstetric and pediatric nurses have traditionally been involved in the genetic testing process with prenatal screening for genetic conditions such as spina bifida and Down syndrome, and newborn screening for genetic conditions such as phenylketonuria (PKU). Nursing involvement in genetic testing has expanded to specialties such as oncology, with genetic testing now available for hereditary breast, ovarian, and other cancers. Nurses in all practice areas will be increasingly involved in the genetic testing process, helping the patient understand the purpose and also the risks and benefits of the genetic test, as part of the informed, decision-making and consent process. The nurse may also obtain written consent for the use of a patient’s biological samples for research purposes, and for the purpose of sharing the results of the testing with other family members (Skirton, Patch, & Williams, 2005).

The use of genetic testing from pre-conception through adulthood is expanding rapidly. As a result of this expansion, new ethical issues are emerging related to genetic testing and informed consent. These new issues create ethical challenges for nurses and all healthcare providers. Currently expanding areas include newborn screening and genetic testing of children. These new ethical challenges will be described below.

Newborn Screening Genetic Testing

Newborn screening is an expanding use of genetic testing. A technology called Tandem Mass Spectrometry is now being used by many state newborn screening programs, allowing screening for more than 24 different genetic disorders using one simple test (American Academy of Pediatrics, 2001). This expanded newborn screening raises new issues around informed decision making. As noted by the American Academy of Pediatrics, genetic testing differs from other types of medical testing in that it provides information about the family. For example, a diagnosis of PKU made in an infant through newborn screening means that the infant’s parents are carriers, and that they have a 25% chance with each future pregnancy for having another child with PKU. Each of the parents’ siblings has a 50% chance to be carriers. Thus the screening results may have associated psychological, social, and financial risks. Psychological risks for parents who are carriers may include parental guilt. A child diagnosed with a genetic condition may face lowered self-esteem and risk insurance and employment discrimination.

Psychological risks for parents who are carriers may include parental guilt. Newborn screening may identify infants who are carriers for a particular condition, such as sickle cell anemia. Giving the parents the infant’s carrier status has the potential advantage of letting the parents know that they may be at risk for having an affected child in another pregnancy. On the other hand, identifying infants as carriers may lead to misunderstanding and misinterpretation by the parents and others that could interfere with the parent-child relationship and result in potential social discrimination. As recommended by the Institute of Medicine and the American Academy of Pediatrics, newborns should not be screened specifically to identify their carrier status. Carrier status findings that are obtained incidentally through the newborn screening process should be given only to parents who have had previous counseling and who have given their consent (American Academy of Pediatrics, 2001; Institute of Medicine, 1994).

Furthermore, many genetic conditions are still difficult to treat or prevent, which means that the information gained from newborn screening may be of limited value in terms of treatment. Given these concerns, the American Academy of Pediatrics (2001) noted “detailed counseling, informed consent and confidentiality should be key aspects of the genetic testing process, particularly when the benefits are uncertain” (p. 2).

At present, most states have mandatory newborn screening programs that require all infants to be screened unless the parents refuse. This is called informed dissent, with minimal information provided to parents. An informed consent process, on the other hand, would involve discussion with the parents about the risks, benefits, and limitations of newborn screening before agreeing to the testing. Having an informed consent process for newborn screening has the potential for more prompt and efficient responses to positive results. The American Academy of Pediatrics (2001) has recommended that pediatric providers give parents the necessary information and counseling about the risks, benefits, and limitations of newborn screening, and that they collaborate with genetics professionals and prenatal care providers in providing this complex information to the parents.

There are currently two states that require informed consent for newborn screening, Wyoming and Maryland. Thirteen other states require that parents be informed about the newborn screening before the testing is done on their infant. All but one state, South Dakota, allow parental refusal of newborn screening for personal or religious reasons (American Academy of Pediatrics, 2001).

Genetic Testing of Children

Another emerging ethical issue with regard to informed consent is the possibility of testing children using predictive, genetic screening for adult-onset diseases such as cancer, diabetes, heart disease, and stroke. Studies have shown that many adults choose not to have genetic testing for adult-onset disorders. This raises the question about whether children screened for adult-onset disorders would want or benefit from such testing (Lerman, Narod, & Schulman, 1996). At present, genetic testing of children and adolescents to predict adult-onset disorders is deemed inappropriate when the genetic information has not been shown to reduce morbidity and mortality if interventions are begun in childhood. In addition, genetic testing for adult-onset disorders in childhood eliminates the child’s right to informed choice, and risks the possibility of lifelong stigma and discrimination (American Academy of Pediatrics, 2001). It is currently recommended that healthcare providers, including nurses, not accommodate parents’ requests to have predisposition testing for their infant or child until the child is old enough, and has developed adequate, decision-making abilities to make an informed choice (American Society of Human Genetics, 1995).

Genetic and Genomic Research Testing

A new area of genetic and genomic research is called genome-wide association studies (GWAS). The goal of GWAS is to identify common genetic factors that have an impact on health and disease. A genome-wide association study is defined as any study of human genetic variation that involves the entire human genome to identify genes associated with common traits, such as high blood pressure or diabetes, or to determine if a person has or does not have a specific disease or condition (U.S. Department of Health and Human Services [U.S. DHHS], 2007). This research has the potential for a better understanding of genetic factors that affect human health, and for improving disease screening, diagnosis, prevention, and treatment.

To move forward with this new research, the U.S. NIH has developed a NIH-wide policy for sharing GWAS data, which includes deposition of the data into a central NIH repository. One of the important areas being explored is protection of research participants, as the data, such as a person’s ancestry or paternity, may be highly sensitive. The nature of the genetic and other information gained through GWAS underscores the importance of the informed consent process that accompanies this research.NIH is now establishing mechanisms to oversee the NIH GWAS Data Repository, monitor data use practices, and explore the evolving ethical issues fundamental to the implementation of the policy, including improving the informed consent for GWAS data sharing among researchers (U.S. DHHS, 2007) to ensure that research participants are “adequately informed about their options for data sharing and are afforded an appropriate level of control over the decision making process” (McGuire & Gibbs, 2006, p. 811).

McGuire and Gibbs (2006) outlined three types of consent processes that are being considered in GWAS studies. These are: traditional consent, binary consent, and tiered consent. Traditional consent involves individuals agreeing both to participate in the research and to the public release of their genetic data. However, some participants may only want to participate and not to agree to share their data. The traditional approach has the potential of limiting the number of individuals willing to participate in the research. A binary-consent process involves research participants agreeing to participate in the primary research project, but choosing not to share their genetic data. In a tiered consent, research participants agree to participate in the primary research study, and are offered a number of options for data sharing, thus allowing them more control over whether, how, and with whom their genetic data are shared (McGuire & Gibbs). The tiered approach is the most ethically sound approach for patients in that it offers them several opportunities to become informed about the research directions and to consider how they wish their genetic information to be shared. Nurses practicing in research settings should be aware of these potential changes in the genetic-informed and genomic-informed consent process so that they can properly educate individuals and families who are considering participating in GWAS and other genomic research.

Maintaining Privacy and Confidentiality of Genetic Information

Genetic technologies are creating new sources of medical information for individuals, families, and communities that raise important ethical, legal, and social issues. Nurses need to be familiar with the nature and sources of genetic information so that they can assure privacy and confidentiality for their patients.

Nurses need to be familiar with the nature and sources of genetic information so that they can assure privacy and confidentiality for their patients. Genetic information is defined as heritable, biological information (National Human Genome Research Institute, 2007). Genetic information can be identified at any point throughout a person’s lifespan from pre-conception until after death. In addition to heritable, biological information, family history, genetic test results, and medical records are also sources of genetic information (Jenkins & Lea, 2005).

Privacy, as defined by the ANA Code of Ethics (2001) involves the right of the individual to control their own body, actions, and personal information. Confidentiality refers to the nurse’s obligation to protect, and not to disclose, personal information provided in confidence to another. Genetic information obtained from family history and genetic testing, however, may reveal information not only about the health risks of the individual patient being seen, but also of other family members who may not be aware of the health concern.

An ethical dilemma arises for nurses and other healthcare providers when a patient does not choose to share genetic information with other family members when it may be important to their health. This creates a dilemma for the nurse, who on the one hand must respect the patient’s confidentiality, while on the other hand has the duty to warn other family members of their potential health risks. As an example, a woman who tests positive for hereditary breast/ovarian cancer informs her nurse that she does not wish to share this information with her sisters and her mother as she does not get along with them. The concern for her sisters and mother is that each of them now has a 1 in 2 chance to carry the same breast/ovarian cancer gene mutation that confers a significantly increased risk to develop breast/ovarian cancer. The nurse can be guided by the ANA Code of Ethics for Nurses (2001) to seek help and counsel from experienced individuals of the Ethics Board within their institution. At this point in time, the nurse does not have “the legal authority to breach the confidentiality of the client-nurse relationship to disclose genetic information about one individual to another individual” (Giarelli, Lea, Jones, & Lewis, 2006, p. 65).

Nurses should also be aware of broader societal privacy concerns. Genetic testing on DNA can be done on stored blood or tissue samples that have been collected for other purposes, for example, newborn screening samples. Data banks of DNA are being established, and genetic disease registries also exist. The ethical concern is that an individual’s DNA sample will be used for additional research and testing without his or her informed consent. The U.S. National Institutes of Health is taking a leading role in addressing these concerns and creating models of informed consent that will assure patients’ privacy (U.S. DHHS, 2007).

Preventing Genetic Discrimination

Genetic discrimination was identified early on in the Human Genome Project by the Ethical, Legal, and Social Implications program at the National Human Genome Research Institute as an ethical issue that needed to be addressed before the benefits of the Human Genome Project could be fully implemented. Although many are hopeful about the use of genetic information to improve health and combat disease, many are concerned about the potential for misuse, involving, for example, insurance and employment discrimination. Individual concerns include worries that genetic information may be used to deny or limit insurance coverage or to determine who is hired or fired. There is concern voiced that some insurers may choose not to insure people who are healthy but genetically pre-disposed to future disease onset (National Human Genome Research Institute, 2007).

Nurses in all practice settings will be involved in the ethical management of genetic information. Nurses share the responsibility with other healthcare providers to protect clients and their families against the misuse of their genetic information. Nurses must work with healthcare teams and institutions to create practice environments in which their clients can be assured that their genetic information is shared in a professional manner (Consensus Panel, 2006).

Many lawmakers, scientists, and health advocacy groups believe that there is a need for Federal Legislation to prevent genetic discrimination. Many lawmakers, scientists, and health advocacy groups believe that there is a need for Federal Legislation to prevent genetic discrimination. Nurses should know of the Genetic Information Nondiscrimination Act (GINA), an Act that is currently before the United States Senate. GINA is designed to prohibit improper use of genetic information in insurance and employment decisions. This Act, supported by the current President of the United States, would prohibit group health insurance plans and health insurers from denying coverage to a healthy person or charging higher insurance rates based on a person’s genetic predisposition to a disease. It would also prohibit employers from using a person’s genetic information to make decisions about hiring, job placement, promotion, or firing decisions. When these protections are enacted, Americans will be free to use genetic and genomic information in medical care without the fear of misuse. At present, more than 140 national patient groups, academic institutions, research centers, companies, women’s organizations, labor organizations, and millions of Americans endorse the GINA Act (National Human Genome Research Institute, 2007).

Nurses have an important role in helping to move the GINA legislation forward. They can write to their state representatives and senators encouraging them to support GINA. Nurses can also call upon the nursing organizations to which they belong to endorse the GINA Act. Furthermore, nurses can talk with their patients, families, and their communities about GINA, making them aware of this important legislation, and encourage them to take actions to support passage of the GINA Act.

Strengthening Genetic and Genomic Care Around the World

Governmental agencies can assist nurses in promoting genetic and genomic healthcare around the world. Gene-based diagnostics and therapeutics are being widely integrated into healthcare today. However, there are barriers to accessing these new technologies for the public worldwide. An important role for all nurses will be to make sure that the health and social needs of the public are being met, including addressing the technological inequities in accessing genomic health care worldwide (Jenkins & Lea, 2005). This requires a major shift in emphasis to a more global view of health and disease.

The basis for nurses to work to assure equal access to genomic health care around the world can be found in the core public health function of assurance (Khoury, Burke, & Thomson, 2000) and in the World Health Organization’s Proposed Guidelines on Ethical Issues in Medical Genetics and Genetics Services (WHO, 1997). The core public health function of assurance includes making sure that the general public has access to and quality of genomic healthcare, and informing populations about relevant genomic health issues and services (Khoury et al.). The World Health Organization document emphasizes the importance of education about genetics for the public and all healthcare professionals noting the profound economic and technological inequities that exist between nations (World Health Organization, 2007).

Governmental agencies can assist nurses in promoting genetic and genomic healthcare around the world. In the United States, the Centers for Disease Control and Prevention (CDC) has taken a leading role in addressing issues of access to genetic and genomic resources by creating multiple tools and resources that address the role of genetics in public health (Centers for Disease Control, 2007). Furthermore, the CDC has developed Genomic Competencies for the Public Health Workforce that include being aware of and addressing issues of equity in genetic and genomic healthcare (Centers for Disease Control, 2007). Nurses can take a leading role working with state, federal, and international health agencies to provide guidance to health systems with regard to decisions about utilization of genetics and genomics services. Nurses are also encouraged to participate in policy development that includes consideration of alternatives for the best possible use of shared resources, including equal access for the public to genetics and genomics services and technologies (Jenkins & Lea, 2005).

Nursing Competencies for Ethical Issues in Genetic and Genomic Healthcare

Nursing practice is increasingly incorporating genetics and genomics into its continuum of care, including attention to and consideration of ethical issues. The opportunities for nurses to fully participate in genomic healthcare throughout the healthcare continuum, for all populations, and at all stages in the lifespan are multiple. Nurses will increasingly participate in the genetic testing process for the screening, diagnosis, and treatment of genomic-based health conditions. Nurses will also be involved in creating healthcare plans based on genomic information, and in the administration of gene-based treatments. The challenge for nursing is to ensure that the nursing workforce is prepared and competent to provide genetic and genomic care. Knowledge and understanding of current and emerging ethical issues is an essential component of this knowledge base. As a first step, nurses need to examine their own ethical beliefs and concerns with regard to genetics and genomics (Consensus Panel, 2006). Nurses also need to build an ethical assessment framework to support them in their delivery of appropriate genetic and genomic healthcare. Having an Ethical Assessment Framework as described by Cassells et al. (2003) can help nurses to develop expertise in the genetics and genomics, ethical, decision-making process.

The creation of essential competencies in genetics and genomics by nurses worldwide provides a foundation that supports the expanding role of nursing in genetic and genomic healthcare (Consensus Panel, 2006; Kirk, 2005). Nurses worldwide are encouraged to work towards incorporating these competencies into nursing education, healthcare, and research. Table 3 presents genetic and genomic competencies in nurses' professional responsibilities and practice domains for nurses to incorporate into their education and practice. Nurses also must become familiar with resources that will help them incorporate the genetics and genomics, and related ethical concerns, into their daily practice (See Table 4). Incorporating these essential ethical competencies into nursing practice will ensure that nurses provide quality and ethically sound nursing care in the new age of genomic healthcare.

Author

Dale Halsey Lea, MPH, RN, CGC, FAAN
E-mail: lead@mail.nih.gov

Dale Halsey Lea is a Board-Certified, genetic counselor with more than 20 years experience in clinical and educational genetics. She is currently the Health Educator with the Education and Community Involvement Branch and the Genome Healthcare Branch, National Human Genome Research Institute. As Health Educator, Ms. Lea develops consumer and health professional genetics health education and community involvement programs and resources; translates genetic and genomic research results into terms understandable by lay audiences and health professionals; collects and assimilates data for Institute reports; conducts genetics research for the Education and Community Involvement Branch; and provides administrative support for public education and community involvement programs.

Ms. Lea is a member and past President, of the International Society of Nurses in Genetics (ISONG). She is also a member of the National Society of Genetic Counselors and the Oncology Nursing Society. She received the ISONG Founders Award in 1999 in recognition of outstanding nursing and patient education in genetics. In 2001, Ms. Lea was inducted into the American Academy of Nursing (AAN), and currently serves on the (AAN) Expert Panel on Genetics. Ms. Lea is widely published in the nursing and genetics literature on integrating genetics into nursing practice, focusing on the creation of interdisciplinary partnerships in the provision of genetic- and gemonic-related healthcare.