An international agenda for ethics in nursing and genetics

An International Agenda for Ethics in Nursing and Genetics Rita Black Monsen, DSN, MPH, RN

Nurses who work with families and communities have an obligation to serve as advocates for ethical practices in health care that rapidly encompasses genetic technologies. Commercialization of gene-based diagnostics and therapies by profit-seeking industrial biotech firms is likely to present new dilemmas for professionals and populations seeking control over inherited risks for illness for themselves and their children. This agenda presents the profession with challenges that infuse nursing practice, education, and research, as well as citizenship, on an earth with fading geopolitical boundaries and evolving cultural transitions. Copyright r 2000 by W.B. Saunders Company

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EFORE THE 21ST century closes, we can expect to see unprecedented, pinpoint accuracy in diagnostics and therapeutics based on discoveries in genetics that have emerged in the past 25 years. In their 1998 text, Genetics in Clinical Practice, Lea, Jenkins, and Francomano call for a national agenda that addresses the ethical, legal, and social implications ‘‘resulting from our ability to understand and integrate genetic technology into health care’’ (p. 259). This article is a beginning step in capturing the major features of an international agenda for ethics in nursing and genetics. Further explorations of the legal and social implications of genetic advances in health care are in order, but will not be addressed here. This agenda is cast as international in view of rapidly fading geopolitical boundaries and increasing frequency of economic and cultural exchange among the peoples of the world, all of which influence health and health care in new and dramatic ways (Mann, 1997). In the 20th century we have witnessed an internationalization of knowl-

Dr. Monsen is an independently operating nursing education consultant. Supported in part by a grant from the National Institutes of Health (NIH #1R25-HGO1685-01), Genetics in the Nursing Literature and Continuing Education funded by the National Center for Human Genome Research, Ethical, Legal, and Social Implications Branch; Principal Investigator: Gwen Anderson, PhD, RN. Address reprint requests to Rita Black Monsen, DSN, MPH, RN, Nursing Education Consultant, 119 Ledgerwood Circle, Hot Springs, AR 71913. E-mail: [email protected] Copyright r 2000 by W.B. Saunders Company 0882-5963/00/1504-0003$10.00/0 doi:10.1053/jpdn.2000.8039 212

edge on all fronts for applications in societies. Indeed, the nursing literature is widely distributed and used, particularly with online availability. Nursing practice that incorporates genetics turns on questions of ethical comportment. Thus, we must proceed to disseminate knowledge of genetics in nursing in ways that account for the many and diverse communities with cultural patterns that inform the ethical dialogs needed for responsible practice, education, and research. BACKGROUND Beauchamp and Childress (1994) offer four basic ethical principles for duties of health care professionals to their patients: (1) autonomy, the preservation of the right of self-determination; (2) beneficence, the obligation to provide benefit; (3) nonmaleficence, the obligation to avoid and/or prevent harm; and (4) justice, the obligation to assure fair opportunities for health care. These principles are widely accepted as guidelines for professional health care practice and are congruent with the American Nurses Association (1999) Code of Ethics. They also bind the social contract between the profession of nursing and the greater society. Nursing’s Social Policy Statement (American Nurses Association, 1995) affirms the professional responsibilities of the nurse and the profession as a whole to provide care that is culturally respectful, appropriately informed, and widely accessible. Nurses are expected to act as responsible advocates for health care regardless of the circumstances of the individual, the family, or the community. Genetic information is rapidly emerging from Journal of Pediatric Nursing, Vol 15, No 4 (August), 2000

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the Human Genome Project (HGP) that was inaugurated in 1990 under the auspices of the National Institutes of Health and the US Department of Energy and charged with sequencing the entire component of human DNA (Collins, 1997). The sequencing task is expected to be completed by 2003, earlier than the original 2005 target date (Collins, 1999). The HGP discoveries have led to the development of gene-based diagnostic tests and therapies becoming available to the public at an unprecedented rate. The information transmitted to families as a result of genetic testing, for example, differs in significant ways from other forms of testing in that it (1) has implications not only for the individual, but for the family and future offspring; (2) can be fraught with uncertainty about determination of risk for future illness; and (3) is subject to change as increasing understanding accompanies rapidly evolving genetic knowledge. The Secretary of the US Department of Health and Human Services has established a blue ribbon panel (Secretary’s Advisory Committee on Genetic Testing, [SACGT]), to study the implications for genetic testing and make recommendations for oversight of technologies that bring new forms of genetic information to our lives (SACGT, 1999). ADVANTAGES AND DISADVANTAGES OF GENETIC INFORMATION The advantages of understanding how specific genes affect health include the possibilities for education and counseling as well as preventive actions such as frequent screening, diet modifications, or treatments to reduce the severity of the expected illness. In addition, family members may be alerted to counseling, testing, and prevention earlier than previously possible. The most important nursing responsibilities include providing accurate genetic information and/or assuring referral and access to reputable genetic health care specialists; preserving the process of decision-making by individuals and family members; safeguarding freely given informed consents for counseling, testing, and therapeutics; protecting the privacy and confidentiality of genetic information, and working to reduce or prevent stigma and discrimination associated with genetic risk and illness. The disadvantages of genetic knowledge are also considerable. We have a desire to control adverse events, risks for danger, and protect ourselves from harm. In some instances, this desire overwhelms our ability to moderate our decisions, even when the outcomes may be of doubtful value—as in

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situations in which precise genetic risk and/or disease severity and progression cannot be determined. Indeed, as genetic information leads to pinpoint accuracy in diagnosis and treatment of illness, at the present time the technical details of some forms of genetic testing and therapy are still being perfected. In addition, although there are over 300 trials underway for transfer of genetic materials into body cells for alleviation of specific gene-based illnesses (Jaroff, 1999), incontrovertible benefits from these therapies are still to be realized. This imprecision is seen in the example of a person who may seek genetic testing for an inherited form of cancer. Three kinds of results are possible in presymptomatic genetic testing overall, but may not yield information that leads to certainty about risk. First, a positive result indicates the presence of the gene, but there may be a less than 100% chance of appearance of the illness in question. For example, testing for BRCA1, one of the genes for breast cancer, became available in the early 1990s and studies have shown that appearance of the disease exceeds 50% before age 50 (Easton, Bishop, Ford, Crockford, & the Breast Cancer Linkage Consortium, 1993). More exact risk figures have yet to be determined. Moreover, BRCA1 has been found to have hundreds of possible mutations; some of which are associated with other cancers (such as ovarian), affect the severity and progression of the cancer, and are modified by the presence of other factors such as environmental influences (SACGT, 1999). Second, the results may not be interpretable because the technical accuracy of the test depends on linkage studies with tissue from other family members and/or other procedures that have not been perfected. An uninterpretable result does not rule out the presence of the gene being searched for. Third, the testing can show that the gene in question is not present. The individual may still have one or more genes for inherited cancers that are not known at the time of testing or merely not tested for by the laboratory. Also, the person is likely to have a background risk for other cancers similar to that of the general population. The astute clinician will include this information about the possibilities for testing outcomes before offering the gene testing; in the counseling sessions before, during, and after the testing; and in written materials including the consent form at all phases of the testing and counseling processes. Although the knowledge of one’s genotype and risk for illness may be valuable, when genetic test

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results are provided to the individual, he or she may encounter unexpected responses from family members. For example, a negative result for the Huntington Disease gene (a neurodegenerative condition currently without effective treatment) may evoke relief for one’s personal future, but ‘‘survivor guilt’’ on reflection about the possible presence of the gene in other family members (Williams, Schutte, Evers, & Forcucci, 1999). Questions about paternity may emerge in testing that reveals the presence of a deleterious gene in offspring. Family members may isolate rather than support the individual who receives a positive test result. Life decision-making may be altered significantly with gene testing in terms of future marriage and childbearing, educational goals, and financial planning (The Boards of Directors of the American Society of Human Genetics and the American College of Medical Genetics, 1995). Perhaps the most widely discussed issues regarding genetics are those of stigma and discrimination by employers, insurance companies, governmental agencies, and other societal entities. The breaches of privacy and confidentiality of information about results have been recognized as central to the debates about regulation of genetic testing (Task Force on Genetic Testing, 1997). The history of sickle cell anemia screening among the AfricanAmerican community is instructive in that the lessons learned from distortion of information (carrier status as an indicator of presence of the disease), ethnocultural insensitivity and/or lack of counseling, and inadequate testing technologies have been included in current calls for oversight (SACGT, 1999). COMMERCIALIZATION OF GENETIC INFORMATION AND HUMAN TISSUES Nelkin and Andrews (1998) call attention to the alarming traffic in human tissues by the biotech industry: ‘‘thousand of peoples’ cell lines that are available for sale’’ in the American Tissue Culture Catalogue (p. 30); the granting of over 1,500 patients for tissues and DNA coding for proteins by the U.S. Patent Office, and the use of human tissues in cosmetics and skin care preparations. Furthermore, they describe collection of tissues without adequate consent or remuneration from diverse populations for use in wealthy nations toward the development of diagnostic materials and medicines. This trend, they noted, led to the World Council of Indigenous Peoples vote for condemnation of the Human Diversity Project in 1993 in

view of its limited likelihood of direct benefit to peoples in developing areas of the world. This stance is supported in the words of Emily Friedman (a contributing writer for the Journal of the American Medical Association), in an interview reported by Brown (1999), who noted that molecular medicine and confidentiality of patient information is at the nexus of ethics and the future of health policy. Friedman cited the work of George Annas (renowned medical ethicist) by saying, ‘‘we always practice our new techniques on the poor and then once they are perfected, we deny access to them’’ (p. 262). The central problems associated with commercialization are tied to the sheer speed with which discoveries have been transferred from the research centers to exploitation by profit-seeking laboratories. The federal government has not been able to monitor the technical efficacy of emerging genetic tests nor does it have jurisdiction over testing in the private sector. According to the SACGT (1999), commercial laboratories themselves determine the readiness of a test for clinical application. The readiness includes the analytical validity (technical ability to determine genotype, the presence or absence of specific gene sequences). Such test development under voluntary control reduces the likelihood of public health protection and consumer voice in conducting gene-based testing. There are no federal standards for establishing the suitability of tests or their clinical use (benefits and harms from both positive and negative results), nor are there requirements for informed consent or human patient review for testing outside of federally funded laboratories (SACGT, 1999). The SACGT reported that 46% of the biotechnology companies surveyed about genetic test development in 1995 by the Task Force on Genetic Testing did not submit protocols for IRB approval (Institutional Review Board for protection of human and animal subjects in research). Some commercial entities may view the time consuming process of obtaining consent, providing the necessary information and support, and following up on the test report counseling process as too costly in view of their obligations to owners and stockholders. Although important in commercial laboratory certification, CLIA (Clinical Laboratory Improvement Act of 1988, a quality assurance mechanism) and the CDC (Centers for Disease Control and Prevention, a federal agency of the U.S. Department of Health and Human Services) do not currently have an oversight role in control of genetic testing and the necessary counseling and

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patient education associated with reporting results. McGovern, Benach, Wallenstein, Desnick, & Keenlyside, (1999) reported a study of personnel and laboratory standards among directors of 245 laboratories offering molecular genetic testing. Thirty percent did not provide access to genetic counseling, 31% did not have a confidentiality policy, and 55% did not require informed consent for testing. These findings, although recognizing that over two thirds of laboratory directors have arranged for access to counseling and protections for confidentiality, a large number have not honored these basic necessities for services to patients and their families. Nurses and other health care providers may not be aware of these omissions. Safeguards for protection of the public are in everyone’s best interest. Commercial entities have proceeded globally in the past 50 years at an unprecedented rate of development. This progress has benefited many, a sign of advancement in the history of human civilization. There must be a pause for caution, however, and for nurses to lead in supporting families and communities to take their place at the policy-setting and decisionmaking tables for appropriate regulation of technologies in health care today. International cooperation is desirable, especially when developing areas of the globe have great priorities for the basic necessities of life but have little or no resources for access to them. We have noted that the wealthy of the world will travel to receive care or bring services to themselves in ways that many find morally questionable (black market traffic in organ procurement, for example). If we have the resolve, we can design fair and equitable opportunities for care for all of the peoples of the world—a reasonable goal for this century. AN INTERNATIONAL AGENDA FOR ETHICS IN NURSING AND GENETICS In view of the many possibilities for benefit as well as harm, in an era of geneticized health care, the following recommendations are offered as an agenda for ethics in nursing that incorporates knowledge of genetics. 1. In clinical practice roles, nurses must be able to examine their own values and beliefs with regard to the application of genetic technologies and seek information, continuing education, and advanced preparation whenever necessary to maintain their abilities. Nurses must be open to acceptance of the wishes and preferences of all peoples with whom they interface, honoring the ethical principles of autonomy, nonmaleficence,

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beneficence, and justice. Nurses must recognize and act in advocacy roles in the face of commercialization and possible exploitation of patients, families, and communities facing gene-based testing and therapies. 2. In nursing education, nurses must become informed themselves to teach students, colleagues, other health care providers, and the public about advances in genetics and their ethical implications in health care. 3. In nursing research, nurses must collaborate with colleagues in molecular biology and genetics to seek answers to questions of a genetic nature and design inquiries that account for the experiences of families and communities as they face dilemmas associated with genetic risks and illness over extended periods of time (Feetham, 1999; Monsen, 1997). Indeed, the cadre of nurses in genetic centers across the world have a wealth of knowledge for informing others about how patients and families live with genetic health problems. 4. Perhaps the most critical area of responsibility is that of citizenship as a professional. Nurses serve, even living their lives as members of communities, mindful of the precious ecological balance among creatures evolving through time on the earth. Our responsibility is to voice our concerns in public arenas, with policy-makers and stake-holders in government, and among ordinary people in our neighborhoods for balance in using technologies versus simple, transformative practices for healthful living. Bent (1999) offers a useful model for caring in communities, ‘‘eco-caring . . . a dynamic interaction between tradition, culture, and environment—in which there is a mutual, living interdependence in which people care for their multiple ecological communities’’ (p. 34). This form of caring in nursing is a praxis—the intertwining of ‘‘knowing, being, and doing’’ (p. 30) that can undergrid the comportment of the nurse in the future. FINAL CONSIDERATIONS There is a lag time between the discovery of specific genes and understanding their roles in human structure and function. In addition, the complex interactions among specific groups of genes and the environment and the lifestyle behaviors that can modify genetic influences on health are only beginning to be worked out as we embark in the 21st century. According to Collins (1999), the Director of the National Human Genome Re-

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search Institute, the discoveries of the HGP in sequencing human DNA in the 1990s will form the template for the biomedical research agendas of the next 100 years as the task of understanding gene functions begins to unfold. Having the results of genetic testing and undergoing gene-based therapies do not guarantee security, despite the promises of unscrupulous professionals or profit-seeking commercial laboratories. Seeking control over destiny can end in greater uncertainty and distress. As Anderson (1999) notes, the experience of decision-making about genetic testing is a transformative process and nurses can find a ‘‘way of being with patients that reflects the ethos of nursing’s social mission in the context of genetics and cultural diversity’’ (p. 144). The realities of lag time between identification of specific genes, their implications for health, and development of therapies that might ameliorate gene-based illness are bound to evoke impatience among many, especially those with rare diseases. Orderly establishment of testing and treatment safety takes time, but ultimately, protects the public. As advocates for patients, their families, and

their communities, nurses can recognize the needs for (1) preservation of the autonomy of each individual and kindred; (2) protection from harm and reduction of stigma and discrimination; and (3) safeguarding of adequate counseling and support for families; as well as (4) public oversight of testing and therapeutic modalities associated with genetic health care. Nurses who have monitored the progress of discoveries in genetics and their applications are able to put the urgencies of testing and therapy into perspective. Indeed, the completion of gene sequencing may ‘‘democratize’’ genetic disease (Walters, 1997, p. 227) by documenting the presence of deleterious genes known to be present in everyone’s DNA. As genetic technologies become more commonplace and the use of gene-based diagnostics and therapies become widely accepted, we may witness societal resignation to genetic risks for illness as part of the human condition. Until that time, however, vigilance to prevent harm is paramount to our roles as advocates in whatever work we undertake in nursing.

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