Ethical, Legal, and Social Issues in the Translation of Genomics Into Health Care
Dr. Laurie Badzek, WVU School of Nursing, PO Box 9600, 1 Medical Center Dr., Morgantown, WV 26506-9600. E-mail: email@example.com
Purpose: The rapid continuous feed of new information from scientific discoveries related to the human genome makes translation and incorporation of information into the clinical setting difficult and creates ethical, legal, and social challenges for providers. This article overviews some of the legal and ethical foundations that guide our response to current complex issues in health care associated with the impact of scientific discoveries related to the human genome.
Organizing Construct: Overlapping ethical, legal, and social implications impact nurses and other healthcare professionals as they seek to identify and translate into practice important information related to new genomic scientific knowledge.
Methods: Ethical and legal foundations such as professional codes, human dignity, and human rights provide the framework for understanding highly complex genomic issues. Ethical, legal, and social concerns of the health provider in the translation of genomic knowledge into practice including minimizing harms, maximizing benefits, transparency, confidentiality, and informed consent are described. Additionally, nursing professional competencies related to ethical, legal, and social issues in the translation of genomics into health care are discussed.
Conclusions: Ethical, legal, and social considerations in new genomic discovery necessitate that healthcare professionals have knowledge and competence to respond to complex genomic issues and provide appropriate information and care to patients, families, and communities.
Clinical Relevance: Understanding the ethical, legal, and social issues in the translation of genomic information into practice is essential to provide patients, families, and communities with competent, safe, effective health care.
Ethical and legal foundations provide a framework for understanding the appropriate incorporation of genomic information and its translation into healthcare practice. A description of the ethical, legal, and social concerns as they relate to healthcare provider obligations, legal and ethical concepts, including confidentiality, informed consent, the duty to warn, access, and genetic testing, are topics presented. Healthcare providers, including nurses, have a social and professional responsibility to ensure fairness and equity to patients, families, and communities amid rapidly developing technology.
The need for health provider education and competency has been established. Competencies related to ethical, legal, and social issues have been developed in the United States, United Kingdom, and other countries worldwide (Jenkins & Calzone, 2007; Kirk, Calzone, Arimori, & Tonkin, 2011). Despite accepted and approved competencies, education and resources are still in their development and are challenged by the continuous stream of new genomic information, some of which is not yet fully applicable to clinical practice (Tonkin, Calzone, Jenkins, Lea, & Prows, 2011).
Ethical Foundations to Guide the Translation of Genomics in Health Care
Firm ethical foundations exist to guide the translation of genomics into healthcare delivery. These ethical foundations do not eliminate the controversy surrounding a given issue, but provide a common moral underpinning to facilitate the understanding and management of the issues as they emerge (Iltis, 2011). Ethicists and others who debate the issues of justice, privacy, autonomy or respect for persons, beneficence, and nonmaleficence generally agree on what policies, practices, or processes are acceptable but have difficulty agreeing on the reasons why they are acceptable. Often rationales for their arguments are grounded in diverse perspectives such as deontology (focused on duty, rules, and obligations), feminism (nurturing or caring focus from a female moral perspective), utilitarianism (focused on greatest good for greatest number), or ethical principles (Hunter, Sharpe, Mullen, & Meschino, 2001; Iltis, 2011). Definitions and discussion of these perspectives and the major ethical principles can be found in many resources (Beauchamp & Childress, 2009; Burkhardt & Nathanial, 2008; Pojman, 2010).
Healthcare professionals often look to professional codes of ethics specific to their practice when seeking ethical guidance. For example, in the United States, professional nurses look to the American Nurses Association (ANA) Code of Ethics for Nurses (2001), a comprehensive statement of nurses’ ethical duties and obligations. Similarly, the United Kingdom nurses use the Standards of Conduct Performance and Ethics for Nurses and Midwives (http://www.nmc-uk.org/code), and in Canada nurses use the Code of Ethics for Registered Nurses (http://www.cna-aiic.ca/en/improve-your-workplace/nursing-ethics/). The nursing ethical codes provide a framework for nurses as they respond to rapid changes in science and their resulting applications in practice. Although neither the ANA nor the U.K. documents specifically address genomics, both provide guidance based on the expressed ideals and morals of the profession. The most recent revision to the Canadian nursing code notes genomics as a determinant of health and advances in genomics as a social and political challenge in the context of the healthcare system. Whether or not the ethical code of nurses specifically addresses genomics, nurses need to recognize that their actions and those of others providing health care based on genomics are of significant concern since a single act may simultaneously benefit one person while harming another.
Places for ethical discussion occur at the individual, family, provider or professional, institutional, and societal levels. Complexity characterizes the discussions because there must be consideration given to both intended and unintended consequences, effects on those who are advantaged and disadvantaged, and positive and negative outcomes. Hunter et al. (2001) support principles as a starting point for ethics discussions in genetics and genomics. For example, the principle of autonomy supports both the providing of information to an individual and the individual's right to remain uninformed. Justice argues that individuals should be treated alike without consideration of their gender, age, ethnicity, health, or socioeconomic status. Access to care and participation in research are examples of the application of the principle of justice. However, Hunter et al., like the ANA Code of Ethics for Nurses, suggest that relatedness plays an important part; therefore, narrative, feminist, communitarian, and casuist (case-based) approaches must be integrated into the discourse to find the best possible solution to the ethical issue. From an ethical perspective, the best solutions are those that least infringe on the values of those involved in the ethical discourse.
Legal Foundations to Guide the Translation of Genomics in Health Care
There are five principles developed by the Ethics Committee for the Human Genome Organization to consider when the global community is confronted by new technology (Kirby, 1997). First, the primary principle is that not to act is to make a decision. To fail to think about the possible consequences science may create is to allow science to “rush ahead” in ways that society may later regret. Second, it is essential to use human rights law to frame the law, and not to create law in a vacuum. Third, the community must be consulted, particularly those who are most likely to receive the benefits and suffer the problems caused by new genomic knowledge. Fourth, our response to the emergence of genomic knowledge must be based not on ignorance, mythology, or religion, but on good science. The fifth and final principle is that to be effective, policies must have “global mechanisms.” This is based on a strong belief that all are part of a global village and have a common humanity. The second principle, to use human rights, and the fifth principle, global mechanisms, have been addressed in several universal documents (United Nations Educational, Scientific and Cultural Organisation [UNESCO], 1997, 2003, 2005). These principles serve as the foundation for the formulation of laws that regulate the translation of genomic information, science, and technology into health care.
Universal Declaration on Bioethics and Human Rights
The Universal Declaration on Bioethics and Human Rights was adopted by the General Conference of UNESCO in 2005. Approximately 195 member countries participate in UNESCO (see http://portal.unesco.org). The 2005 declaration was created because of growing international awareness that the mapping of the human genome created significant new ethical challenges and was based on newly emerging genetic technical knowledge that brought together themes from the Universal Declaration on the Human Genome and Human Rights (1997) and the International Declaration on Human Genetic Data adopted by the General Conference of UNESCO in 2003. It is currently the only internationally accepted set of principles for translating genomic knowledge into health care. The 2005 UNESCO Declaration describes 14 principles to be respected by all those who follow this declaration. The two fundamental principles that underlie the entire Universal Declaration on Bioethics and Human Rights (2005) are human dignity and human rights.
Respect for human dignity makes it imperative not to reduce individuals to their genetic characteristics and to respect their uniqueness and diversity. The patient-healthcare provider relationship is harmed if the patient is seen merely as a cluster of genetic material. All human beings have DNA that is 99.9% the same (Brice & Sanderson, 2006). Small differences in the remaining 0.1% of individuals’ DNA contribute to significantly different health outcomes.
There is a strong temptation to assess genetic traits across groups or communities, rather than seeing the uniqueness and diversity of every individual. For example, in 2006 a study in New Zealand claimed the over-representation of Maori (the indigenous people of New Zealand) in violent crime statistics was explained by a genetic trait dubbed the “warrior gene” (Lea & Chambers, 2007). This study was ultimately shown to be scientifically incorrect; however, the study had devastating effects for Maori because it enabled the media to grasp hold of racial stereotyping (Merriman & Cameron, 2007). Because the risks and benefits of research are often not known—and further, because research results, especially in early studies can be erroneous or misleading—transparency in both the research process and healthcare decision making related to informed consent is critical.
The right to free and informed consent is a cornerstone of respecting human dignity. Informed consent is particularly vital in the search for genomic knowledge because genetic-based diagnosis, treatment, and research inevitably involve bodily samples. People providing researchers with a bodily sample need to give their full and free informed consent, not merely to the sample being taken, but also to how their bodily sample will be used. Havasupai Tribe v. Arizona Board of Regents (2008) is a graphic example of what happens when informed consent is not correctly obtained.
The Havasupai Tribe lives in the Supai Village at the bottom of the Grand Canyon in the state of Arizona in the United States. In 1963, an investigator carried out work in collaboration with the Havasupai Tribe on education issues, community issues, and social and environmental studies. In 1989, a Havasupai Tribe member asked the investigator to do some research into the “epidemic” of diabetes among members of the Havasupai Tribe. A second investigator agreed to undertake the “diabetes-centred project” and also decided to research genetic aspects of schizophrenia as part of the project without discussing it with the Havasupai Tribe (Havasupai Tribe v Arizona Board of Regents, 2008).
Two hundred Havasupai people signed consent forms to give their blood for what they believed was research on diabetes. The researchers ultimately concluded that the diabetes within the Tribe was developing too quickly among tribal members for it to be relevant to genetics. However, unbeknown to the members of the Havasupai Tribe, the researchers continued to perform research and publish articles based on the blood samples. The publications were unrelated to the consent given on topics such as evolutionary genetics, schizophrenia, inbreeding, and population migration (Havasupai Tribe v. Arizona Board of Regents, 2008).
The Havasupai Tribe claimed breach of fiduciary duty, lack of informed consent, fraud, misrepresentation, fraudulent concealment, intentional infliction of emotional distress, conversion, violation of civil rights, negligence, and gross negligence (Havasupai Tribe v. Arizona Board of Regents, 2008). The claim eventually settled when the university where the investigators were employed issued a public apology, arranged the return of the blood samples, and agreed to collaborate with the Havasupai Tribe on matters such as health, education, and economic development and to create a scholarship program for tribal members (Harmon, 2010; Pember, 2010). The Havasupai Tribe study is an example that highlights considerations about access, fairness, and transparency in genetics research and the importance of valid informed consent.
The principle of human rights ties the dignity of the individual together with the availability to all. At the core of human rights is respect for each individual as an end in himself or herself, not merely as a means to an end. This is based on Kant's Formula of Humanity that states “So act as to treat humanity, whether in your own person or in that of any other, in every case at the same time as an end, never as a means only” (Kant, 2005, p. 88).
Treating each person as his or her own end recognizes that person's uniqueness, whatever the person's genetic makeup and background. This is particularly important in the quest for genomic knowledge to avoid slipping into thought patterns that privilege the group over the individual. Some ethnic populations, such as the American Indians and the Australian Aborigines, are highly suspicious and reluctant to give specimens, making them less likely to be studied (Jacobs et al., 2010). Still others such as African American athletes, who are most likely to test positive for sickle cell disease, fear discrimination and exclusion from some sports following mandates by the National Collegiate Athletic Association (NCAA), which now requires screening for the sickle cell trait prior to participation in NCAA sports (Dodd, 2012). Fears are supported by a lack of congruence and public statements by a significant healthcare group, the American Society of Hematology (ASH), that are in direct conflict with the NCAA mandate and publicly opposed the testing. The ASH supports preventive interventions for heat-related illness, noting that although there have been fatalities, many with the sickle cell trait will not suffer any health concerns (Hobson, 2012). Opponents, who support the NCAA ruling, fear the high dollar lawsuits and publicity that surround college football fatalities.
Availability to All
Another guiding principle from the Universal Declaration on the Human Genome and Human Rights (1997) is that “benefits from advances in biology, genetics and medicine, concerning the human genome, shall be made available to all, with due regard for the dignity and human rights of each individual” (Article 12). Genetic health care based on new genomic knowledge has the potential to both expand and reduce the disparity between people. Since new genetic knowledge may lead to improved health outcomes, the improved health outcomes must be accessible to all, not just to those who can afford them.
For example, preimplantation genetic diagnosis (PGD) is considered by some to be experimental (Kalfoglou, Scott, & Hudson, 2005). Using PGD, it is possible to choose and implant an embryo that has been screened for serious genetic disorders. The procedure is rarely covered by insurance in the United States but was provided by the New Zealand government for some parents whose potential offspring are at risk for suffering from serious genetic disorder. However, in New Zealand the treatment is limited to funding only a total of 40 cycles of the treatment per year. A second example is, if gene therapy becomes a reality, and if it were possible to modify genes for treatment of specific cancers, it would be very unfair if only those who could afford this therapy had access to it.
A final example is the pharmacogenetic drug Herceptin (Genentech, San Francisco, CA, USA), which targets genes with the potential to rapidly multiply cells associated with breast cancer (Hill, 2009). For some individuals who would benefit from this targeted treatment, the cost of this drug would be prohibitive; however, the New Zealand government has chosen to fully subsidize this drug, so it is accessible to all those who have this particular breast cancer gene. Similarly, the United Kingdom covers Herceptin for women with early and advanced HER2-positive cancer (http://pathways.nice.uk.org). Unlike New Zealand and the United Kingdom, in the United States the use of drugs and reimbursement for drugs such as Herceptin are defined by individual healthcare plans and insurance agreements or contracts.
Confidentiality and Privacy of Genomic Health-Related Information
The genomic era has presented new ethical and legal challenges for healthcare providers and patients related to confidentiality and privacy of health information. Unlike other healthcare information, genomic information is central to the person, and yet that information likely extends to families and to future generations of offspring and impacts their lives as they marry and have children of their own. The interpretation of genetic information is integral to individual personhood and understanding of one's place in the world. All health professionals are called to honor the principles of confidentiality and privacy of health information as they provide care across the spectrum of health services. The protection of patients’, families’, and extended families’ rights by safeguarding their personal information and giving them support to use health information as they see fit is a widely honored standard of practice.
Confidentiality between healthcare providers and patients is not absolute and can be breached where there is an immediate and serious risk for danger to the life of another. A good example of this is the famous American case Tarasoff v. Regents of University of California (1976). In this case a student at the University of California at Berkeley told his psychiatrist that he was going to kill his former love interest (a fellow Berkeley student). Two months later the patient stabbed his former love interest to death. The California Supreme Court in Tarasoff stated that once a therapist does in fact determine, or under applicable professional standards reasonably should have determined, that a patient poses a serious danger of violence to others, he bears a duty to exercise reasonable care to protect the foreseeable victim of that danger.
Thus, the California Supreme Court essentially said that the psychiatrist had a duty to warn the intended victim. A duty to warn, like Tarasoff, seems unlikely to apply to genetic health care because generally a person's genetic predispositions are not usually certain and there is no immediate risk to the person's health. And further, most genetic conditions take time to develop, and may or may not eventuate. Nevertheless, the possibility exists that a family member's health could be improved by knowing the genetic makeup of other members of their family. Offit, Groeger, Turner, Wadsworth, and Weiser (2004) presented the need for health providers to balance the privacy and confidentiality of patient information with the duty to warn of an inherited health risk. Offit et al. (2004) outlined that based on prior case law and developing case law, the potential for health provider liability exists associated with the failure to warn of an inherited risk and the ability to avoid that risk, if known. At present, the best way for healthcare professionals to avoid liability is to talk with their patients about the importance of advising other family members about relevant genetic information that could benefit their health.
In the case of genetic information, perhaps more than any other kind of health information, the protection of confidentiality and privacy carries implications that touch individuals’ and families’ lives far beyond the care encounter. Genomic information is of interest to employers and insurers and perhaps to other entities in our society as proliferating technologies increasingly expands the use of genomics in clinical care. The Genetic Information Nondiscrimination Act (GINA), of 2008 (a U.S. statute), protects individuals from unfair exclusions on the basis of genetic health information by employers and health insurers. Exclusion practices by disability, life, and long-term care insurers are not restricted by GINA. And further, even in the United States, GINA is limited to the civilian population. Groups such as the military, veterans served by the Veteran's Administration, and Native Americans served by the Indian Health Service are not protected individuals.
As discussed in an earlier section, informed consent is not something that can be achieved by simply providing patients with a form and asking them to sign it. Informed consent essentially involves an interaction between healthcare professionals and patients in order to ensure that the patients fully understand in their own way what is at stake, as well as what decision-making authority they have in the particular situation. Informed consent is a process that requires very clear and specific communication from the healthcare professional describing the issues. It then requires listening to patients to see whether they have understood the issues and their potential choices. Each person's capacity to understand varies, so it is not possible to have a totally standardized approach to informed consent (Henaghan, 2012).
Healthcare professionals cannot simply provide patients with medical information and wait for a response; rather, they must foster a relationship of confidence, trust, and understanding so that there is real insight into whether or not the patient fully grasps what is at stake. When issues of a genomic nature arise, the health professionals must have adequate knowledge so they can explain the information to the patient in words that the particular patient, given his or her age and capacity, is likely to understand. This ensures the patient can ask appropriate questions and receive answers to those questions. In a developing field like genomics, knowledge is often incomplete, and knowledge gaps should be explained to the patient as accurately as possible. An obligation is placed on health professionals to be up to date with the advances of genomic knowledge (Henaghan, 2006).
Patients Lacking Capacity
Article 5(e) of the Universal Declaration on the Human Genome and Human Rights (UNESCO, 1997) states:
If according to the law a person does not have the capacity to consent, research affecting his or her genome may only be carried out for his or her direct health benefit, subject to the authorization and the protective conditions prescribed by law. Research which does not have an expected direct health benefit may only be undertaken by way of exception, with the utmost restraint, exposing the person only to a minimal risk and minimal burden and if the research is intended to contribute to the health benefit of others persons in the same age category or with the same genetic condition, subject to the conditions prescribed by law, and provided such research is compatible with the protection of the individual's human rights.
The ethical dilemma here is that while some people cannot consent to medical treatment for whatever reasons, many, if they were able to consent, might be quite happy for their genetic material to be used, and others may well have objected strongly to it. Therefore, decision-making capacity is a threshold requirement necessary for informed consent. Any exception to using genetic material without consent must be defined narrowly, and there must be a clear benefit to the person whose genetic material is being used. Proposed guidelines for the genetic testing of minor children who also do not have the capacity to consent are not covered within the scope of this discussion but illustrate such an exception (Henaghan, 2007).
The Future of Health Care: Genetic Testing, Whole Genome Analyses, and Biorepositories
Ideas once thought to be science fiction or impossible treatments are increasingly finding their way into practice and producing sought-after results. The future is no longer in the identification of genomic information, but rather lies in the personalization of information to improve individual healthcare outcomes through identification of the entire genome variation, genetic testing, gene therapy, epigenomics or the use of molecular materials to influence gene expression, and other areas of new scientific development.
As genetic testing becomes part of mainstream health care and direct-to-consumer (DTC) genetic testing become increasingly more available, the need for understanding the implications for informed consent are evident. DTC testing is already available over the Internet or through the mail, thus making DTC testing globally available. Unfortunately, the ability of consumers to select testing companies, select appropriate tests, or understand results may be lacking. Although genetic testing is voluntary and reasons for seeking genetic testing vary, the lack of information about testing companies and their ability to conduct safe and effective laboratory testing may be inconsistent or absent unless governmental protections are in place to ensure reliable and useful test results (Javitt & Hudson, 2006).
Other ethical and legal issues associated with consumer knowledge, confidentiality, privacy, and consent become more apparent when results of genetic testing reveal a significant risk for or a manifestation of genetic disease. Testing for mutations associated with genetic health may reveal unexpected findings, such as nonpaternity of a son or daughter if testing more than one family member, or reveal an incidental finding of genetic variant(s) that could have health implications for individuals and their families but were not the primary aim of the test. The possibility of incidental findings needs to be presented prior to conducting genetic testing; however, many may not fully grasp the impact of such information ahead of time (Evans & Rothschild, 2012).
Evans and Rothschild (2012) weighed scientific progress against the obligations to minimize harm, including returning to subjects the knowledge of incidentally discovered variants of high risk or where morbidity or mortality can be improved. In the research setting, the return of research results is further complicated by thinking that clinically relevant results should be confirmed in a certified laboratory and shared with individuals by persons appropriately trained in genomics. The potential burden that could be placed on researchers could significantly impede progress given the costs and the continuous discovery of new variants and associations. Findings that may or may not be well understood at one point in time may later be discovered to have clinically valid associations with human disease or disease risk. Transparency, valid informed consent, the establishment of clear researcher goals and subject expectations, as well as open discussion and communication among a wide range of stakeholders may be key to resolving complex ethical and legal questions associated with obligations and responsibilities (Evans & Rothschild, 2012).
Whole Genome Analysis
Whole genome analyses reveal millions of variants; however, at the present time only a very small number of genetic variations exist for which there are firm associations with disease or a high risk for disease and where morbidity and mortality are increased. However, science is continuously updating the list of clinically relevant variants (Evans & Rothschild, 2012). The requirements for monitoring of whole genome analyses over time are not yet established. Since existence of a known deleterious variant can change over time, the expectation that testing companies, providers, and researchers continue to monitor genomic data in light of new information is an extremely burdensome task that is not part of current practice standards and infrastructure.
Biorepositories, also described as biobanks, are becoming more common throughout the world. The collection and storage of biospecimens by individuals, research teams, and hospitals has been ongoing. The number of facilities and the number of banked specimens is growing rapidly, and concerns about the lack of oversight and the potential for specimen identifiability have increased. These collections of biospecimens are increasingly being shared by researchers and passed on to others quite distant from those who originally created them. At one time, the dissemination of the specimens was limited by the logistical realities. Now with the explosion of technology, large-scale studies of carefully collected biospecimens can be paired with detailed clinical data to detect the effects of genetic factors in complex diseases and potentially improve health diagnosis and treatment (Haga & Beskow, 2008). The potential for linking specimens in biorepositories to the individuals who were the source is being explored. This identifiability presents new challenges related to the safety of data in biorepositories, the protection of privacy in the reidentification of data, and the ability to obtain valid consent for unknown future use (Haga & Beskow, 2008; Malin, Loukides, Benitez, & Clayton, 2011). Although Malin et al. (2011) found the ability to reidentify and link biospecimens to original donors small, the potential for reidentification in the future given our current level of rapid technology and genomic advances may soon change that capability.
Legislation and guidelines governing biospecimen collection, access, and use differ widely and are applied inconsistently all over the world (Haga & Beskow, 2008). An understanding of the scope of biorepositories and the risks and benefits to individuals (especially those who provide biospecimens) and society must be achieved in order to practice responsibly as a healthcare provider.
Nurses are often involved in obtaining biospecimen consent, recruitment of vulnerable and minority populations, and disclosure of research results or incidental findings. The nurse's unique ability to garner the trust of the patient must be balanced with the nurse's responsibility to safeguard the rights of the individual. Participation by nurses in ethical discourse and policy development are essential to the integrity of the nursing profession and to the development of health regulation around biorepositories and specimen testing.
Regulation and Genomics
The rapid introduction of genomics into health care and the flood of information related to understanding the genome may be attributable to a less restrictive regulatory environment, since exploration and discovery related to genomic science are outside the scope of existing regulations. Collaborative agreements by scientists to share data are increasing the number of new genomic discoveries related to whole genome sequencing and the identification or genetic sequences that subtly and significantly impact health. The continued balancing of societal best interests and protection of moral interests against science and discovery of new knowledge continues. An appropriate balance provides protections against discrimination and ethical bias, while supporting cultural and religious diversity and the need for equal treatment and access for all, without stifling free enterprise and the push for new knowledge that can provide needed cures and promotion of healthier lives. Biobank donors and research participants seek assurances that they will be protected from discrimination, stigmatization, and invasion of privacy (Haga & Beskow, 2008). Consumers and providers need assurances that genomic information is safe, reliable and relevant (Javitt & Hudson, 2006). And further, as uses related to resistance and susceptibility of disease are uncovered in genome-wide association studies, the development of assurances and regulation may also be necessary to promote justice and fair distribution of resources needed to reduce global inequality and protect low-income and low-literacy populations (deVries et al., 2011).
With so much knowledge and a vast field of emerging science, healthcare professionals are often faced with what seems like more questions than answers. The translation of new knowledge and technologies into practice is often unclear, and understanding the integration of the science to practice presents challenges for even the most proficient healthcare professionals. Continued discussion by professional associations as well as community engagement and government supports are needed to establish consensus around complex ethical and legal issues associated with genomics. Development of guiding resources and regulations including educational competencies related to ethical, legal, and social issues are mechanisms to advance knowledge and facilitate appropriate translation of genomic knowledge into clinical practice.
Health Professional Competency in Genomics and the Role of the Nurse
Education and competency are crucial to translating the benefits of genomics to the patient and for guarding against potential harms. Competencies common to all health professionals have been identified by the U.S. National Coalition for Health Professional Education in Genetics (2007). Comprehensive competencies that are applicable to all registered professional nurses exist (Kirk et al., 2011). To illustrate this, the U.S. efforts are highlighted. The Essentials of Genetic and Genomic Nursing (hereafter referred to as “The Essentials”; Consensus Panel on Genetic/Genomic Nursing Competencies, 2009) were developed through a process of consensus that engaged the entire nursing community, including the opportunity for any nurse to provide input (Jenkins & Calzone, 2007). More recently, in 2012, competencies leveled for advanced practice nurses were also published online in the United States (Greco, Tinley, & Seibert, 2012).
Both the registered professional nurse and the advanced practice nurse competencies encompass the ethical, legal, and social issues previously presented. The Essentials (Consensus Panel on Genetic/Genomic Nursing Competencies, 2009) lists competencies including knowledge and clinical performance indicators in two domains: professional responsibilities and professional practice. Recognition of the impact of one's own values related to genomics on the provision of patient care, advocacy for genomic access and informed consent, incorporation of new technology into practice, tailoring genomic information based on culture and literacy, and continued evaluation and development related to genomic knowledge and skill needs are specifically listed professional responsibilities. Each of the professional responsibilities can be tied to previously discussed issues and to professional ethical codes. In the professional practice domain, nurses must demonstrate understanding of the relationship between genomics and health. Actual genomic knowledge and integration of that knowledge by nurses carrying out the nursing process are required to meet professional practice clinical performance indicators.
Competencies for nurses with graduate degrees, including advanced practice nurses, address professional responsibility and professional practice in the application and integration of genomic information to health. The need to recognize the significance of genomic-related ethical, legal, and social issues is specified and expected. Facilitation of ethical decision making, application of ethical principles, and implementation of strategies to resolve genomic issues, as well as the ability to inform healthcare and research policy as it relates to genomics, are graduate professional practice genomic competencies (Greco et al., 2012). Graduate degreed nurses are also expected to comprehend how genomics research informs human biology and disease to improve health outcomes. Doctorally prepared nurses also lead genomic research and are responsible for translating these findings into nursing practice.
Recognizing the complexity of translating, interpreting, and delivering genetic information has been identified as a growing need for education and training across disciplines (Secretary's Advisory Council on Genetics, Health, and Society, 2011). Although the need is acknowledged, limitations to the integration of genomics into education and ultimately into practice exist. Currently, education primarily occurs in specialized intensive genetics courses, continuing education, and sporadically throughout formal academic programs. Education is often not competency based. Nurses, like other healthcare professionals, are at risk for liability when competencies are identified and known but not practiced. Failure to integrate genomic competencies into nursing practice may be associated with negative patient outcomes and therefore could become a source of professional liability or moral distress for nurses. The successful integration of known genomic competencies into nursing practice decreases the risk for ethical, legal, and social issues and promotes the provision of safe, effective patient care.
Health professionals need to be informed about the ethical, legal, and social issues in the translation of genomics into health care. Nurses and other health providers have a responsibility to become knowledgeable about genomics so that they can assist patients, families, and communities to become informed consumers of genomic-based health care. An understanding of the principles of ethics and law, including human dignity and human rights, will help nurses as they encounter complex issues. Knowledge of emerging genomic science that impacts practice as well as information about emerging ethical, legal, and social issues—including but not limited to confidentiality, decision-making capacity, informed consent, genetic testing, and research—are necessary to ensure the provision of appropriate and equitable health care. Nurses should acquire and maintain competency in genomics at their defined skill level, being mindful that the ethical and legal landscape surrounding genomics is rapidly evolving.