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The remarkable advances in genetics and genomics over the last three decades have necessitated
initiatives on the part of all healthcare disciplines to assist providers in applying this new knowledge in
practice. Nursing has responded by planning and implementing a number of projects that address the
challenging issues created by genetic and genomic advances. 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.

  
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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.

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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).

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Cumulative Pace of Gene Discovery 1981-2005.

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Image)

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Gene Discoveries for Common Complex Diseases.

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Image)

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 6





  (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.
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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.

 
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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 [

 
 
   
 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.

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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.).

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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.

   
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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 


   
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 . A second publication edited by Monsen will be available in 2008
entitled 

 

 

 


  . 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.).

  
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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 
  




 

 



 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.

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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  
   
 (2001) provides a framework for nurses that is responsive to these and
other changes in the healthcare environment. Our current  
   
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 6
 
   
 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  
   
, 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.
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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.).

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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.

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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.

  
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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.