...multifaceted genomic changes are now known to contribute to a number of the more frequently seen patient conditions, including some of our chronic diseases...Remarkable advances in healthcare have been achieved in the past twenty years as a result of the rapid increases in the genetic and genomic sciences. The use of genetic and genomic information is increasingly important in providing effective healthcare. Genetics focuses on the individual genes in the genome, generally addressing those conditions resulting from single gene errors, conditions nurses encounter rather infrequently. Genomic information focuses on the interaction of specific genes within the genome and with external factors within the environment. These multifaceted genomic changes are now known to contribute to a number of the more frequently seen patient conditions, including some of our chronic diseases, and have many implications for nursing practice.

This article presents an overview of the considerable progress made in sequencing the human genome, progress that has provided the opportunity for the remarkable advances we are seeing in healthcare today. It also describes how various professional healthcare groups and associations are working together to enhance nurses’ understanding of this genomic revolution, thus paving the way for nurses to develop core competencies and enabling them to incorporate genomic advances into their daily nursing care. The American Nurses Association Code of Ethics for Nurses is presented as a framework for responding to these rapidly occurring changes. Two case studies illustrate how nurses are applying the emerging science and technology in genetics and genomics to advance the nursing profession and provide competent nursing care to patients faced with genetic and genomic healthcare concerns.

Progress in Sequencing the Human Genome

The cumulative pace of gene discovery is creating a sense of urgency to inform nurses about the resources made available through human genome research. This cumulative pace of discovery is portrayed graphically in Figures 1 and 2. Figure 1 illustrates how quickly gene discoveries related to genes associated with disease are occurring as a result of the Human Genome Project and similar genome-related research. Figure 2 provides a timeline illustrating the rapid knowledge advancements resulting from research initiatives that have accelerated gene discoveries related to genes associated with the more prevalent chronic diseases. These advances have emerged as the result of several United States (U.S.) federally funded research efforts guided by strategic plans (National Human Genome Research Institute (NHGRI) Goals, n.d.). Beginning in 1990, the Human Genome Project (HGP) focused research on sequencing the whole human genome (About the Institute, n.d.). Ninety-percent of the complete sequence of all three billion base pairs that make up the human genome was published in 2001 (International Human Genome, 2001); the final human genome project was completed in 2003 (Nature, 2004).

Figure 1. Cumulative Pace of Gene Discovery 1981-2005.

Figure 2. Gene Discoveries for Common Complex Diseases.

...current research is focused on looking at the entire genome to identify contributors to common diseases. Building on the knowledge gained through identification of the genome sequence, current research is moving at an even faster pace. Improved technology has enabled rapid progress. For example the International HapMap project to identify and catalog human genetic variation began in 2002 and was completed in 2005 (International HapMap, n.d.). Advancements in understanding specific genetic contributions to disease processes are being facilitated through disease-specific research such as The Cancer Genome Atlas (n.d.). Since individual genes are only a piece of the puzzle in health and illness, current research is focused on looking at the entire genome to identify contributors to common diseases. This ongoing research is assessing not only the genome structure, but also the influence of other variables, such as environmental factors, on genomic diseases (Genome Wide, n.d.).

The Human Genome Project included not only funding for basic research, but also funding for initiatives illuminating ethical, legal, and social implications of the research findings. For example, the cloning of Dolly the sheep in 1997 highlighted the technological capabilities, along with a variety of risks and benefits associated with such advances. The prospect of applying this technique in humans is troubling for scientific, safety, and ethical reasons. Nurses often voice concerns about the ethical ramifications for future generations of decisions being made today. Issues such as concerns about potential discrimination based on genetic information continue to challenge the U.S. federal legislative bodies (Genetic Information Nondiscrimination, n.d.). These concerns influence interest in, and utilization of genetic information by patients, families, and communities.

Health Professionals Response to Genomic Discoveries

In response to the rapid pace of gene and genomic discovery, several professional groups have come together to assist nurses and other health professionals understand and apply these discoveries to patient care in everyday practice. These groups have included the American Nurses Association (ANA), the American Medical Association (AMA), the National Coalition for Health Professional Education in Genetics (NCHPEG), the ANA House of Delegates, the International Society of Nurses in Genetics (ISONG), and the National Institutes of Health (NIH) primarily through the National Human Genome Research Institute (NHGRI). The responses of these groups will be discussed below.

American Nurses Association Response

For over 15 years, the ANA Center for Ethics and Human Rights (hereafter, the ANA Ethics Center or the Center) has been participating in efforts to assure nurses are prepared to provide competent nursing care when faced with genetic and genomic healthcare concerns. Specifically, the Center has participated in promulgating a body of knowledge for nurses, developing and disseminating information and standards, and advocating for nursing and public policies that ensure quality nursing care in the wake of new genetic technology and genomic healthcare services.

In the early 1990’s, just after the National Institutes of Health (NIH) Center for Human Genome Research was established, ANA began a project to elicit information from nurses about the use and storage of genetic information. This project entitled “Managing Genetic Information: Policies for U.S. Nurses” was funded by The Ethical, Legal, and Social Implications (ELSI) Branch of the NIH National Center for Human Genome Research (NCHGR). The purpose of the project was threefold. First, information about activities that involved eliciting, transferring, or using genetic information would be gathered from nurses and analyzed. Second, ethical dilemmas faced by nurses in various roles would be identified. Finally, the project would develop resources to assist nurses in managing challenges associated with genetic advances. The project was coordinated and carried out in the ANA Ethics Center. A seminal document, published by ANA in 1995, entitled Managing Genetic Information: Implications for Nurses reported the data from the survey (Scanlon & Fibison, 1995). The Scanlon and Fibison document identified four key areas for practice and linked them with statements in the Code of Ethics (ANA, 1985). This publication was the first to discuss the integration of genetics into nursing practice using key ethical concepts such as informed consent, confidentiality, veracity, and justice. This initial project launched the ANA Ethics Center into a series of projects that continues even today.

ANA/AMA/NHGRI Collaboration

In 1996, three major organizations came together to address the vital need for genetics education for health professionals. The American Medical Association (AMA), the ANA, and National Human Genome Research Institute (NHGRI) worked together to formulate a national genetics education initiative later titled the National Coalition for Health Professional Education in Genetics (NCHPEG). As a result of this collaborative effort, ANA on behalf of the three organizations, submitted a grant to the Robert Wood Johnson (RWJ) Foundation requesting money to jumpstart the coalition. The RWJ Foundation granted to ANA, the grant submitter and fiscal manager, $50,000 for the initial coalition meeting and the development of a national educational initiative. The Coalition, now called NCHPEG grew out of that initial funding and a vision of the future need for healthcare providers to be prepared for clinical applications of this basic scientific understanding. Today, NCHPEG remains strong. The mission of NCHPEG is to promote health professional education and access to information about advances in human genetics in order to improve the healthcare of the nation. The organization has an elected board of directors, a membership fee structure, a website, and a well-attended, annual meeting. Voting members of NCHPEG include public and professional groups as well as corporations who have an interest in education related to genetics for health professionals. The membership of NCHPEG has grown to include international members. Individuals may also participate as non-voting members. Thirty percent of the organizations participating in NCHPEG are nursing organizations and nursing has had a continuing presence on the NCHPEG governing board. Today NCHPEG is the premier resource for genetic and genomic information for health professionals in all disciplines (National Coalition, n.d.).

ANA House of Delegates Response

Staff at ANA actively represent the nursing perspective through participation in national coalitions and meetings concerning genetics and patient care...Building on this foundation of involvement, the ANA and its constituents have been actively creating and passing resolutions related to genomics for over a decade. Through the work of its House of Delegates and through the work of its Ethics Advisory Board, the ANA has developed policy statements related to genomics. The ANA House of Delegates addressed issues related to genetics education and the therapeutic and reproductive application of genetics in 1999 and 2003 respectively. Position Statements developed at ANA include “Human cloning by means of blastomere splitting and nuclear transplantation (2000),” and a recent 2007 Position Statement on stem cell research. These Position Statements are available through the ANA Homepage <www.nursingworld.org> Healthcare Policy–>ANA Position Statements–>Ethics and Human Rights. The Ethics and Human Rights Advisory Board appointed for 2006-2008 has undertaken an update and revision of the 2000 cloning position statement. The revised statement should move to the approval process in 2008. The Ethics Center, with the support of the ANA Governmental Affairs Department, has lobbied the U.S. Congress in relation to stem cell research, genetic testing, and confidentiality protections for those requesting gene testing. Staff at ANA actively represent the nursing perspective through participation in national coalitions and meetings concerning genetics and patient care including the the Institute of Medicine Roundtable on Translating Genomic Based Research for Health Secretary’s Advisory Council on Genetics (SACGHS), Centers for Disease Control and Prevention’s (CDC) Evaluation of Genomic Applications in Practice and Prevention (EGAPP), the Genetic Alliance, and the John Hopkins Policy Institute.

International Nursing Response

In addition, the ANA and the International Society of Nurses in Genetics (ISONG) have developed a continuing relationship (International Society, n.d.). Together ANA and ISONG developed and published the scope and standards for genetics in clinical practice. Moreover, ANA and ISONG have responded to requests for comments on federal documents with a unified nursing voice. In 2004, Nursesbooks, the publisher for ANA, added to its publication list a book by Rita Monsen entitled Genetics Nursing Portfolios: A New Model of Credentialing. A second publication edited by Monsen will be available in 2008 entitled Genetics and Ethics in Nursing: New Questions in the Age of Genomic Health. This book will provide nurses with a comprehensive text on ethics and genomics. These valuable resources will assist the ANA in preparing nurses to integrate genetic and genomic information into practice. ISONG international members have also been active around the world developing resources to improve nursing competency. For example, the United Kingdom (U.K.) has developed a competence-based, education framework that includes story-based resources for nursing education (Telling Stories, n.d.).

Developing Nursing Core Competencies: ANA and the National Institutes of Health

Nurse clinicians, researchers, educators, and administrators have new responsibilities due to these advances in genetic knowledge and technology. Efforts to enhance  nursing genomic competence and prepare U.S. nurses so as to make a difference in patient care were furthered in 2005 when ANA partnered with the National Cancer Institute, the National Human Genome Research Institute, and the Office of Rare Diseases at the National Institutes of Health. This core group worked together to build upon the framework established by nurses in the U.K. in developing nursing core competencies in genetics for nurses in the United States. A consensus panel of nursing leaders came together at ANA headquarters to identify, review, and generate a plan to formalize genetic and genomic core competencies for all registered nurses. The final document entitled The Essential Core Competencies and Curricula Guidelines for Genetics and Genomics has been endorsed by 49 representative nursing organizations, the Genetic Alliance, the March of Dimes, and NCHPEG (Genetics and Genomics, n.d.). In 2006, a second meeting of consensus panel members and representatives of the endorsing organizations met to establish a strategic plan for competency implementation. Information from the 2006 meeting is located on the ANA Center for Ethics and Human Rights website (Resources, n.d.).

The National Institutes of Health has also funded a project to study the ethical, legal, and social issues (ELSI) surrounding genetics. NIH has identified many ethical concerns (Ethical, Legal and Social, n.d.). Among them are the reliability, availability, and utility of genetic tests; the access and interpretation of test results; the initiation of testing when there is no treatment and/or testing of children for adult-onset diseases; the genetic involvement in manipulation and genetic enhancements; the genetic influence on behavior, behavior change, and genetics; and environmental genetic interactions. Nurse clinicians, researchers, educators, and administrators have new responsibilities due to these advances in genetic knowledge and technology.

The Code of Ethics for Nurses

...the knowledge and use of information surrounding genetic and genomics raises new questions and ethical challenges for nurses and nursing practice. As with any rapidly emerging science or technology, the knowledge and use of information surrounding genetic and genomics raises new questions and ethical challenges for nurses and nursing practice. The Code of Ethics for Nurses (2001) provides a framework for nurses that is responsive to these and other changes in the healthcare environment. Our current Code of Ethics for Nurses specifically addresses ethical concepts that apply directly to the challenges presented by new information on genetics or genomics; this foundational document is a comprehensive statement of nurses' duties and obligations. Each of the nine provisions must be read carefully and understood in the emerging context of genetic and genomic science.

A few examples from The Code of Ethics for Nurses illustrate the application of the ethical concepts to current genetic and genomic issues and challenges. The first provision states that nurses take into account the values of every individual. These values, which differ from person to person, become evident when decisions are made regarding tests, treatment, reproduction, or participation in research. Considerations might include the hereditary risks for developing disease and the benefits and risks of the genetic testing. Advocating for and maintaining privacy and confidentiality are described in provision three. These additional responsibilities are of critical importance when the ownership and control of genetic information is discussed. Throughout the Code of Ethics for Nurses, but explicitly in provision five, there is guidance on acquiring the knowledge and skills necessary for professional practice. Due to the extraordinary progress and scope of the emerging science and technology in genetics and genomics, nurses need ongoing education in these areas to effectively use their competencies on a daily basis. Many diseases are now recognized as having a genetic component, and tests are being developed to identify susceptibility genes. As a result of these advancements, nurses have a responsibility to participate in the education of the public, a responsibility that is found in the eighth provision, (subpoint two). Nurses today have an obligation to provide to the public information about the management of disease risk based on genetic and genomic information.

Case Studies

Nurses today have an obligation to provide to the public information about the management of disease risk based on genetic and genomic information. The public will increasingly expect that nurses will utilize genetic information and technology when providing care. Nurses must assume leadership for advancing the entire nursing profession so that it becomes an informed and active discipline. With so many competing demands for nursing time, opportunities to do this may not be recognized or may be ignored. The examples that follow, based on the examples provided at the U.S. governmental genome site ( (Do You Know Tony, n.d.; and Do You Know Vanessa, n.d.), demonstrate where an informed nurse provider can make all the difference (Greco, 2007; Also visit Family History, n.d.).

Example 1

Tony, 35, knows he has a lot to be thankful for: a great job, a nice home, and a terrific family. He also knows he owes a debt of gratitude to his primary care provider (PCP). When Tony’s PCP took a thorough family history during a physical last year, he found that Tony’s father had been diagnosed with colon cancer at 45 and that a paternal aunt had endometrial cancer at 30. His provider recognized that Tony was at increased risk for hereditary, non-polyposis, colorectal cancer syndrome (HNPCC), or Lynch syndrome. Tony learned that HNPCC causes about 3-5% of all cases of colorectal cancer and greatly increases the risk of early-onset colon and endometrial cancer in affected individuals.

If you were Tony’s primary care provider or worked in this office, would you have taken a comprehensive family history? Would you have known how to interpret his family history and have picked up on the red flags that indicated a need for further follow-up? Would you have known where to refer Tony for genetic counseling and testing if indicated? If you said yes to these questions, you would have provided Tony with access to the best care possible today.

Tony and his family underwent genetic counseling and testing, which revealed that he and several relatives carried a gene alteration causing HNPCC. Armed with that knowledge, Tony and his family now get regular cancer screening. Early and frequent colon cancer screening for people with HNPCC has been shown to save lives. Tony knows it might just save his.

Next time you see a “Tony,” take the time to obtain a complete family history. It could make all the difference in the world.

Example 2

Vanessa, 35, has just finished walking with her daughter and feels great. These walks are now part of their daily routine, and her healthcare provider tells her she won’t need medication for her diabetes in the foreseeable future. But for a thorough primary care provider, Vanessa’s outlook may not have been so good. All too often, diabetes goes undiagnosed for years while high blood sugars silently attack vulnerable organs like the eyes, kidneys, and heart. By the time symptoms appear, organ damage has already occurred.

If you were Vanessa’s primary care provider or worked in this office, would you have taken a comprehensive family history? Would you have known how to interpret her family history and picked up on the red flags (described below) that indicated a need for further follow-up? According to a press release from National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), about 40% of adults age 40-74 have pre-diabetes (NIDDK Press Office, 2004). Some people have no symptoms. American Indians and Alaska Natives on average are 2.2 times more likely to experience diabetes than Caucasians. Recognizing those at increased risk because of family history or ethnicity may help prevent devastating complications. The Indian Health Service has published useful guidelines for care of adults with prediabetes (Indian Health, 2006).

Fortunately for Vanessa, her healthcare provider asked about her family history at her last physical and found that her mother, uncle, and brother all developed diabetes in their mid-40s. Vanessa’s fasting blood sugars were in the diabetic range. One year later, thanks to changes in diet and exercise, Vanessa’s sugars are nearly normal and she is helping the rest of her family adopt a healthy lifestyle.

The next time you see a “Vanessa” take the time to obtain a complete family history, including ethnicity. She, and her family, will thank you.

Researchers are expanding our understanding of genetic risk factors for diabetes through ongoing discoveries. Genetic variants associated with increased susceptibility to type 2 diabetes, a disease that affects more than 200 million people worldwide, have been identified (NHGRI & NIDDK, 2007). Such discoveries accelerate efforts to understand genetic contributions to chronic illness, as well as facilitate greater investigation of how these genetic factors interact with each other and with lifestyle factors. Ultimately, once the association of these variants with diabetes are confirmed, genetic tests may be utilized to identify (even before escalating blood sugars) those individuals, like Vanessa, who may be able to delay or prevent diabetes with healthy lifestyle decisions and behaviors. Information to assist nurses in this challenge is available in a toolkit “Your Game Plan for Preventing Type 2 Diabetes” (Your Game Plan, n.d.). Would you have known whether or not genetic testing was available for Vanessa? If you had said no to this question but could have explained the progress currently being made in understanding diabetes, Vanessa would have had access to the best care possible today.

Conclusion

Indications are that nurses have only begun to recognize the value of incorporating genetic and genomic information into education, practice, research, and policy. Indications are that nurses have only begun to recognize the value of incorporating genetic and genomic information into education, practice, research, and policy. The American Nurses Association, working in cooperation with the American Medical Association, the National Coalition for Health Professional Education in Genetics, the ANA House of Delegates, and the International Society of Nurses in Genetics (ISONG), the National Institutes of Health primarily through the National Human Genome Research Institute, and other groups, has offered a strong voice in leading the way to develop a long-term plan to promote better care through genetic/genomic nursing competency. Collaborative efforts, nationally and internationally, must be continued in order to improve healthcare providers understanding of genomics and their ability to apply this understanding in practice. Providers need an understanding of the impact of current scientific, genetic, and genomic discoveries and a vision of future discoveries. Only with this understanding and vision can the translation of such knowledge ultimately benefit our patients, their families, and communities.

Authors

Laurie Badzek, RN, MS, JD, LLM
E-mail: lbadzek@hsc.wvu.edu

Laurie Badzek is the current Director of the ANA Center for Ethics and Human Rights and a Professor, at the West Virginia University School of Nursing. Professor Badzek is a nurse attorney who teaches nursing, ethics, law, and health policy. Professor Badzek has practiced in a variety of nursing and law positions. Professor Badzek has a continuing relationship with the American Nurses Association where she served as the Ethics and Human Rights Director from 1998-1999 and from 2003-present. While at ANA, she was instrumental in development of a plan that ultimately resulted in the acceptance of a new Code of Ethics for Nurses in June 2001. She has been instrumental in the work of ANA related to the genetic and genomic core competencies for nurses. Professor Badzek is an active scholar and researcher, investigating ethical and legal healthcare issues. Her research has been published in nursing, medical, and communication studies journals. Laurie Badzek received her B.S.N. from West Virginia University Schools of Nursing and her J.D. while at the West Virginia University College of Law. She is a member of both the Order of the Barristers and the Order of the Coif. She is also a member of the Sigma Theta Tau Nursing Honorary for research and scholarship. She received her M.S. in Nursing and her L.L.M. in healthcare Law from DePaul University in Chicago.

Martha Turner, PhD, RN
E-mail: Martha.Turner@ana.org

Dr. Turner is the Assistant Director of the ANA Center for Ethics and Human Rights. A native of Minnesota, she retired in 2006 from the Air Force after 30 years of service. She was a flight nurse and achieved the rank of Colonel. Dr. Turner was the Consultant for Healthcare Ethics to the Air Force Surgeon General from 1998 until 2006. Her responsibilities included representing the Department of Defense as an ex-officio member of the Secretary's (HHS) Advisory Committee for Genetics, Health and Society, reviewing policies related to many aspects of healthcare and developing ethics programs  and ethics expertise throughout the Air Force Medical Service. She was a member of the Minnesota Nurses Association Ethics Committee from 1997-2002 and the Ethics Advisory Council of the Oncology Nurse Society from 1994-1996. She recently served as the Program Director for International Health at the Uniformed Services University, Bethesda MD, and taught in the MPH and PhD/DrPH programs. Appointed as an Assistant professor in the School of Medicine, she taught courses and gave lectures in International Health, Medical Anthropology, Ethics in Public Health and Public Health in Disasters. Previously, she was the Associate Dean and Assistant Professor in the Graduate School of Nursing from 1999-2003 where she taught qualitative research, nursing theory, nursing ethics and policy and lectured in neurophysiology. Her research interests and publications cover topics from aero medical evacuation of casualties to teaching patient advocacy. Martha received a BS and PhD in Nursing from the University of Minnesota, an MA in Counseling from Ball State University, and an MS in Nursing from Loma Linda University. She is a member of Sigma Theta Tau, The American Society of Bioethics and Humanities, and The International Society for Nurses in Genetics

Jean F. Jenkins, PhD
E-mail: Jean.Jenkins@nih.gov

Dr. Jenkins received her BSN from the University of Maryland; MSN at the Catholic University of America; and a PhD in 1999 completing Innovation of Diffusion Research on Genetics Education for Nurses. Dr. Jenkins has assumed key leadership positions at the National Institutes of Health (NIH). It was during a clinical internship as part of doctoral studies at George Mason University, Virginia that she recognized the importance of advances in genetics research for all healthcare providers. She has been motivated and committed to the preparation of others to become aware, plan for, and integrate genetic concepts into practice. In 2005 she received the Michael J. Scotti Jr. Award, for National Coalition for Health Professional Education in Genetics (NCHPEG) efforts as Content and Instruction Co-Chair. She coordinated the development and consensus of the NCHGPEG competencies and the Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics. She has co-authored several genomic nursing texts. Currently Dr. Jenkins is Senior Clinical Advisor, Office of the Director National Human Genome Research Institute, NIH.

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