Kathi C. Huddleston PhD, RN, CNS, CCRC
Citation: Huddleston, K., (December 23, 2013) "Ethics: The Challenge of Ethical, Legal, and Social Implications (ELSI) in Genomic Nursing" OJIN: The Online Journal of Issues in Nursing Vol. 19 No. 1.
Nurses have always been a cornerstone of healthcare literacy and education. It is essential that, in the complex and quickly changing world of genetics and genomics, they maintain this position. Genetics is the study of the function of a single gene; whereas genomics widens the view to include all genes, and their expression and effects on cell growth, utilizing DNA and bioinformatics (which is the use of biological knowledge to organize and analyze large amounts of data). Genomics includes the emerging fields of ‘omics,’such as proteomics (study of protein structures), metabolomics (study of chemical cellular metabolites), and transcriptomics (the study of RNA molecules).
Nurses will soon become as familiar with the omics as they are with vital signs. They will blend this new knowledge into their patient care, while continuing to address, with patients and community members, the ethical, legal, and social implications (ELSIs) of future health interventions. These ELSI implications will require basic genetic and genomic health literacy and an understanding of the expectations of the public. The need for the nurse to have baseline competencies in these areas has been well established (American Nurses Association, 2006; Calzone et al., 2012; Gelling, 2013). The multiple findings from studies that have explored health behaviors and attitudes towards genetic testing suggest that people want to know their genetic sequencing results, so as to better understand their personal health profiles (Haga et al., 2013; Hodgson & Gaff, 2013). The ever-expanding discoveries in genomics challenge the nurse to be competent in genomic medicine and knowledgeable in associated, and often difficult, ethical situations (Milton, 2012).
The genomic revolution began with the completion of the sequencing of the human genome in 2003. In the past 10 years, we have seen almost daily releases of studies and reports linking specific changes in genomes with diseases. New genomic discoveries are visible in every arena. Over the past two decades, there has been a growing realization of the complexity of disease and the pathogenesis of both acute and chronic illness (Hamilton, 2009; Lea, 2008). We now know that cancer is not one disease; rather it occurs in different forms with each form being a different disease. Our understanding of several ‘common’ medical disorders now demonstrates that these disorders are anything but common; they differ in their predisposition, initiation, and path of progression. Something as prevalent as hypertension has proven to be a complex and confusing disorder with numerous etiologies and multiple triggers.
Currently, whole genome sequencing (WGS) serves primarily as a research tool, but that is rapidly changing. We are now seeing the use of WGS in the clinical diagnosis and treatment of complex illnesses (Tabor, Berkman, Hull, & Bamshad, 2011). The impact of genomics research on healthcare and society depends on our ability to deal with the complexity of the genomic revolution and the integration of knowledge to inform our ethical, legal, and social issues (Milton, 2013).
Ethical, Legal, and Social Implications
The concepts of autonomy, respect, beneficence, nonmalificence, and justice provide ethicists with a common language and a set of beginning assumptions upon which they can discuss the dilemmas presented to them. Although these concepts can frame the discussion, they are limited in providing answers to the new and complex questions raised by genomics. For example, the concept of autonomy would support the right of persons to obtain their genomic information, but it could also be used to defend their right to refuse such information. Consider a woman who had been found to have a BRCA1 (breast cancer susceptibility gene) variant during genetic testing for a different disorder, in light of the concept of autonomy. She may choose not to learn the results of this incidental finding that she had not consented to. She has the right to refuse that discovery information from her healthcare provider. If she does elect to learn her BRCA1 status, the question arises as to whether she has any obligation to share that information with her sisters or her mother who may have a 1:2 chance of also carrying the disease-causing gene. Does she have the right to test her child? Should the child’s right to autonomy reign so that she delays involving her child until the child comes of age and ‘consents’ to genetic testing? Every ethical question can be discussed and framed to defend or to counter any assumed ‘correct’ decision.
Today, professional organizations are actively providing guidance and recommendations regarding these questions. The American Nurses Association (2006) has gathered important information about ethical challenges confronted by people receiving genetic- and genomic-based healthcare. Professional codes of ethics, including that of the American Nurses Association and those of professional organizations in other countries, such as Canada and the United Kingdom, provide guidance. These codes provide a framework for nurses who respond to the expansion of the science of genomics in fields such as genetics and genomics. Additionally, the American College of Medical Genetics and Genomics has recently posted a controversial recommendation for the reporting of incidental findings (Green et al., 2013). As the science advances, specialty organizations will also provide recommendations and guidance. To do this effectively, a basic framework is needed to understand the reason and the rationale for specific decisions so as to provide a consensus of leadership (Evans & Rothschild, 2012; Levenson, 2012).
As knowledge of genomics increasingly influences clinical care, the ethical, legal, and social implications of care decisions demand further inquiry and discussion within hospitals, medical practices, and communities. In my role as Director of Clinical Research at the Inova Translational Medicine Unit, I work with over 1500 families who have enrolled with their newborns to participate as a family in whole genome sequencing research. These families are participating in the exploration of molecular causes of prematurity and the longitudinal study of genomic correlations to childhood health outcomes. We are searching for genomic correlations as to causes of premature birth; but in the course of that research we may ‘incidentally find’ a baby with a BRCA1 variant. This genetic variant is solely related to the adult onset of breast cancer. Should that result be reported to the mother and father? Would they make choices based on that knowledge that may affect the child? Should the child have the right to choose whether or not she wants to know this finding? What about other children? The question remains as to whether a mother should be told about that genetic susceptibility as it may relate to her reproductive health?
The ethical challenges in our genetic and genomic era regarding questions like these are intertwined with legal and social issues that lead to different interpretations of data privacy. The healthcare world has numerous privacy regulations. However, genomics is different because, although the genomic information belongs to an individual, it is relevant to the family. The patient’s parents, siblings, and children share roughly 50% of that genomic background, which is central their identity. Patients’ genetic information can change their perspective of who they are, who their parents are, their place in the world, and their time in the world.
All healthcare professionals must honor the principles of privacy and confidentiality. The technical challenges of coding protected health information through unique, unrelated, numbering systems that are read by computers, as well as the challenges of storing such grand-scale data on secure systems, are creating new markets and new requirements to support confidentiality, patient privacy, and choice. The risks to confidentiality related to genomic information have profound regulatory and insurance implications.
Ethical issues in informed consent have gained greater urgency because of the rapid advances in genomics. Genetic-informed consent is more than a signed document and more than a ‘permission’ to perform genetic testing. It involves an interaction between the healthcare provider/research team member and the patient/participant. It requires listening and reviewing participants’ specific needs to ascertain their understanding. Some have even argued that it is not possible to provide informed consent for genetic research because knowledge is advancing so rapidly that we do not know what tests will be possible or what variants may be identified next week.
The increasing utilization of genomics in research and clinical care requires the development of a bioethical framework that considers the ethical, legal, and social implications necessary to advance healthcare and incorporate genomic information into health-related practices. With scientific breakthroughs emerging daily, for example the discovery of bacterial genomes and their interactions with human genomes as they affect health and disease, nurses are faced with more questions than answers. The translation of new knowledge and discoveries requires the integration of science into practice. There are no easy answers to these difficult ethical challenges. Science will continue to push our practice out in front of our ‘comfort zone.’ Nurses need to develop guiding resources and recommendations, and establish educational competencies, to provide for the challenges of ethical, legal, and social implications in genomic nursing.
Kathi C. Huddleston PhD, RN, CNS, CCRC
Dr. Huddleston currently serves as the Director for Clinical Research Projects at the Inova Translational Medicine Institute, Inova Fairfax Medical Campus, Falls Church, VA. She has over 30 years of nursing experience, working in pediatrics, critical care, surgery, and cardiac care. She has worked in children’s hospitals and has practiced in a variety of geographical areas, including Washington DC, Denver (CO), Fresno (CA), and Norfolk (VA). She has now returned turned ‘home’ to the Washington DC area. Dr. Huddleston has always been interested in clinical outcomes research; and genomic research is a natural progression for her. She notes that one can argue whether genomics is the driver or the passenger in our advancing technologies, but there is no doubt that the ‘genomics vehicle’ is in the race to the finish! She earned her PhD from George Mason University in Fairfax, VA, her MSN from the California State University in Fresno, and her BSN form the University of Maryland (Baltimore).
American Nurses Association. (2006). Essential genetic and genomic competencies. www.nursingworld.org/MainMenuCategories/EthicsStandards/Genetics-1/Essential-Genetic-and-Genomic-Competencies-for-Nurses-With-Graduate-Degrees.pdf
Calzone, K.A., Jenkins, J., Yates, J., Cusack, G., Wallen, G., Liewehr, D.J., … McBride, C. (2012). Survey of nursing integration of genomics into nursing practice. Image: The Journal of Nursing Scholarship, 28(2), 101-106.
Evans, J.P., & Rothschild, B.B. (2012). Return of result: Not that complicated? Genetics in Medicine, 14 (4), 358-60. doi: 10.1038/gim.2012.8
Gelling, L. (2013) Let's tap the patient potential. Nurse Researcher, 20(3), 3.
Green, R. C., Berg, J. S., Grody , W.W., Kalia, S.S., Korf, B. R., Martin, C. L., … Biesecker, L.G. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetic Medicine, 15(7), 565-574. Doi: 10.10.38/gim.2013.73
Haga, S.B., Rosanbalm, K.D., Boles, L, Tindall, G.M., Livingston, T.M., & O'Daniel, J.M. (2013). Promoting public awareness and engagement in genome sciences. Journal of Genetic Counseling, 22
Hamilton, R. (2009). Nursing advocacy in a postgenomic age. Nursing Clinics of North America, 44(4), 435-446.
Hodgson, J., & Gaff, C. (2013). Enhancing family communication about genetics: Ethical and professional dilemmas. Journal of Genetic Counseling, 22(1), 16-21.
Lea, D. (2008). Genetic and genomic healthcare: Ethical issues of importance to nurses. OJIN: The Online Journal of Issues in Nursing, 13(1). doi: 10.3912/OJIN.Vol13No01Man04
Levenson, D. (2012). The tricky matter of secondary genomic findings: ACMG plans to issue recommendations. American Journal of Medical Genetics. Part A, 158(7), ix-x. doi: 10.1002/ajmg.a.35521
Milton, C.L. (2012). Ethical implications and interprofessional education. Nursing Science Quarterly, 25(4), 313-5. doi: 10.1177/0894318412457066
Milton, C.L. (2013) The ethics of research. Nursing Science Quarterly. 26(1), 20-23. doi: 10.1177/0894318412466740
Tabor, H.K., Berkman, B.E., Hull, S.C., & Bamshad, M.J. (2011). Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research. American Journal of Medical Genetics Part A. 155(12), 2916–2924. doi:10.1002/ajmg.a.34357
© 2013 OJIN: The Online Journal of Issues in Nursing
Article published December 23, 2013