Key Words: Ethics, Genetic services
The window of opportunity is open. Open to scientists, clinicians, and professionals who must now consider the implications of the application of genetic discoveries in health care. Open to the public for consideration of personal impact and personal interest in the availability of genetics services. But as stated by Dr. Collins, Director of the National Human Genome Research Institute, "this window of opportunity will not stay open indefinitely" (Collins, 2000, p. 5). The revolution expected in health care as illustrated in the OJIN topical issue on genetics has tremendous potential to improve the health and well-being of society . However, this revolution also brings forth ethical and social challenges for practical consideration (see Table 1). Issues chosen for this ethics column were selected to highlight articles presented by authors in the OJIN genetics topical issue. These issues are only the tip of the iceberg; many yet invisible issues will surface during the challenging times ahead. For more information see http://bioethics.georgetown.edu/nirehg.htm
One of the first practical considerations faced by health care professionals is to determine the best way to offer genetic services. Models of care that integrate the responsibility of all health care providers to gather relevant information from individuals related to family history of health and illness may assist in the identification of those who can benefit by referral for additional services. Access to an additional service, such as genetic testing for a hereditary predisposition to cancer, is limited by resource availability and financial coverage of such services (Touchette, Holtzman, Davis, & Feetham, 1997). Decisions such as where, how, when, and by whom should testing be offered need to be made. What role do nurses have in the support of decision making by individuals for single and eventually for multiple gene testing? How do nurses as part of a multidisciplinary team work together to offer services based on individual risk profiling that meet the needs of that person and his/her family? Dale Lea presents a perspective of genetic service models for consideration in creating changes in the delivery of genetic services.
Philosophy of Care
Genetic testing in many circumstances can offer prediction but no treatment for that specific disease. Oftentimes, this predisposition to illness will be known prior to symptoms. Interventions designed to influence lifestyle or preventive aspects of care may meet with resistance. Health promotion requires an investment by the individual and society in the decision that indeed preventive care is valuable. Are insurance coverage providers, service providers, or even individuals ready for this change in philosophy of care? Stanley Grant proposes that there are benefits and limitations of screening that the consumer must be educated to understand. She furthers details that inadequacies of current technology impact already difficult decisions about prenatal genetic screening. Tailored therapeutics or surveillance activities such as frequent screening tests require testing specificity and sensitivity capability. Quality control and technology currently limit this capability. For more information on an effort to address such concerns go to http://www4.od.nih.gov/oba/ sacgt.htm. What kind of research is important in designing programs of care that are effective and yet cost efficient in diagnosing and managing presymptomatic disease? How will the uncertainty of the outcomes of genetic results influence types and amount of information needed for decision making about intervention options?
A significant challenge in offering genetic services is how to sufficiently prepare individuals to make informed decisions (Alliance of Genetic Support Groups, 1993; Rieger & Pentz, 1999). Educational preparation, cultural influences, and personal/family experiences will affect understanding by persons trying to decide about utilization of genetic information. What assurances can you make regarding privacy and confidentiality of genetic information (Fuller et al.,1999)? Will the genotyping be documented in their medical record? There is the potential for stigmatization and discrimination of the individual/family based on genetic information (Hudson, Rothenberg, Andrews, Kahn, & Collins, 1995). Janet Williams and Debra Schutte illustrate the concerns of individuals about the confidentiality of genetic testing information for a mental health disorder. What policy decisions must be made so that fairness in the use of genetic information becomes less of a limitation to utilization of genetic services? Insurance and employer discrimination as a result of genetic information is a risk currently raised by individuals in consideration of genetic testing (Lapham, Kozma, & Weiss, 1996) and is also presented in the OJIN article by Williams & Schutte. For more information about consumer concerns, go to www.geneticalliance.org
Personal and Family Impact
Genetic testing and screening options have individual psychological benefits and limitations. There are a wide range of responses to such personal information which can create disruptions to families (Feetham, 1999). How can the nurse best prepare individuals and families to consider the impact of knowing personal genetic information on their communications and relationships? Family relationships are dynamic and evolving. What potential personal and family consequences can be shared with individuals in consideration of their decision? An example of an issue of concern that may arise in families is testing of the embryo or a minor for a genetic predisposition (ASHG/ACMG, 1995). Reproductive decisions may be impacted by genetic test results. What guidelines are available to the professional and the public to assist the individual and family in thinking about the usefulness of such testing in the fetus or child? Each of the OJIN articles present issues for consideration by the nurse in thinking about implications of genetics information for personal and family decisions.
Genetic discoveries have implications for education, practice, and legislative guidelines (Andrews, Fullerton, Holtzman, & Motulsky, 1994). Genetic technology is offering new tools that have the potential for application throughout the human continuum. Health care decisions regarding the embryo, fetus, child, adolescent, adult, and the elderly will eventually all be impacted by genetic information. Only a small percentage of diseases are felt to have a hereditary component. However, the genotype impacts the individual’s response to environmental, lifestyle, and physical influences resulting in the predisposition for biological and behavioral problems. Karen Greco and Matthew Bayan offer a personal story about the negative consequences of inadequately prepared health care professionals to understand and utilize genetics information in practice. What opportunities exist for nurses to participate in the development of guidelines that positively influence the integration of genetics into education, practice, and policy settings? More information concerning efforts to address these issues is available at: www.nhgri.nih. gov/ELSI or www.nchpeg.org
There is also the opportunity for futuristic applications of genetic technology that will challenge ethical and social beliefs (Grady, 1998). Jean Jenkins, in the overview of genetics health care, provides details on emerging ethical considerations and challenges. More information on this topic is available at: www.phrma.org/genomics/ Public and professional values, attitudes, knowledge, and beliefs have the potential to enhance or limit the diffusion and commercialization of genetic technology. Not all ethical implications could be addressed in the OJIN topical issue. Issues such as manipulation of the genetic code, cloning, tissue engineering, DNA banking, eugenics, and those issues not addressed in Table 1, will benefit from knowledgeable persons to assure that misuse of genetic technology does not result in negative outcomes for society. Increasingly, discussion of safety and environmental impact of genetic manipulation is occurring. How will nurses take advantage of this window of opportunity to influence the future of health care and address societal concerns about the new applications of genetic discoveries?
A new vision for genetic health care that integrates ethics as the foundation of decision making is needed. Nurses as individuals and professionals have an obligation to not only learn about the emerging genetic science but also to consider the pending impact on society. The window of opportunity open now presents challenges in the clinical application of genetics, to the philosophy of care in our world, and for providing informed consent to individuals and families considering such services. Policy implications are vast with the possibility for significant nursing influence on the design of appropriate genetics legislation, education, and practice guidelines. This article offers a beginning step in raising awareness about genetic ethical issues of concern to the public. The OJIN topical issue on genetics provides examples of current topics, but future ethical dilemmas resulting from genetic technology may just be a gleam in our imagination. Take time to reflect on the potential ethical implications of genetic information and the knowledge and skills you will need to create an ethical vision that improves the health and well-being of society.
Jean Jenkins Ph.D., R.N., FAAN
Alliance of Genetic Support Groups. (1997). Informed consent: Participation in genetic research studies. Chevy Chase, MD: Alliance of Genetic Support Groups. Available [online] www.geneticalliance.org/Resources/Publications/infoconsent.html
Andrews, L., Fullerton, J. E., Holtzman, N. A., & Motulsky, A. G. (1994). Assessing genetic risks: Implications for health and social policy. Institute of Medicine. National Academy Press: Washington, DC.
Fuller, B., Kahn, E., Barr, P., Biesecker, L., Crowley, E., Garber, J., Mansoura, M., Murphy, P., Murray, J., Phillips, J., Rothernberg, K., Rothstein, M., Stopfer, J., Swergold, G., Weber, B., Collins, F., & Hudson, K. (1999). Privacy in genetics research. Science, 285, 1359-1361.
Grady, C. (1998). Ethics, genetics and nursing practice. In D. Lea, J. Jenkins, & C. Francomano. Genetics in clinical practice: New directions for nursing and health care. pp. 221-252). Boston: Jones and Bartlett.