Genomics to Health
Establishing the Essential Nursing Competencies for
Genetics and Genomics
Jean Jenkins, Kathleen A. Calzone
Purpose: To describe the development and process of consensus used to establish essential
genetic and genomic nursing competencies relevant to the entire nursing profession in the
United States (US) regardless of academic preparation, role, practice setting, or clinical
specialty.
Organizing Construct: Rogers’ diffusion of innovation theory applied to the adoption of
genetics and genomics as the central science for health care.
Methods: Multiphased national nursing initiative to develop, refine, and establish with consensus essential competencies in genetics and genomics for all nurses.
Findings: Genetics and genomics have emerged as the central science for health care in the
21st century, transforming recommendations for nursing education, practice, regulation
and quality control.
Conclusion: The Essential Nursing Competencies and Curricula Guidelines for Genetics and
Genomics indicate the minimal criteria for competency in genetics and genomics for the
entire nursing profession in the US.
C 2007 SIGMA THETA TAU INTERNATIONAL.
JOURNAL OF NURSING SCHOLARSHIP, 2007; 39:1, 10-16.
[Key words: competencies, genetics, genomics, nursing education]
*
T
he elucidation of the genetic and genomic basis of
health and illness has been the catalyst for unprecedented progress in scientific and clinical research
in the past decade (Collins, Green, Guttmacher, Guyer,
2003; International Human Genome Sequencing Consortium, 2004). Collins noted that the human genome can be a
book with many uses. “It’s a history book: a narrative of the
journey of our species through time. It’s a shop manual, with
an incredibly detailed blueprint for building every human
cell. And it’s a transformative book of medicine, with insights that will give healthcare providers immense new powers to treat, prevent, and cure disease” (Collins, 2006, p.1).
Remarkably this scientific progress is not limited to understanding a single condition or conditions, but has led to
expanded care options across the entire spectrum of healthcare. Most health conditions have been identified as having a genetic or genomic component that is influenced by
environmental, lifestyle, and other factors (Guttmacher &
Collins, 2003). When synthesizing the emerging evidence,
genetics and genomics redefines traditional health and illness approaches, and genomics has become the central science for all health professionals in the 21st century. The
purpose of this paper is to describe the first step to address
the challenge of preparing the nursing workforce for this
21st century care model integrating genetics and genomics
by identifying essential nursing competencies relevant to the
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First Quarter 2007
Journal of Nursing Scholarship
*
*
entire nursing profession in the US, regardless of academic
preparation, role, practice setting, or clinical specialty.
Background
Since the 1980s, a few nurses have had the vision to
appreciate the implications of genetics and genomics for
future health care and nursing practice and have called
for integration of genetics into nursing curricula, National Council Licensure Examinations, continuing education, and certification (Anderson, 1996). In 2000 an expert
panel, convened by the Health Resources and Services Administration (HRSA) emphasized the importance of integrating genetics content into nursing curricula to provide
an adequately educated nursing workforce now and for
the future (Health Resources and Services Administration,
Jean Jenkins, RN, PhD, FAAN, Kappa, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD; Kathleen A.
Calzone, RN, MSN, APNG, FAAN, Xi , National Institutes of Health, National
Cancer Institute, Center for Cancer Research, Genetics Branch, Bethesda,
MD.
Correspondence to Dr. Jenkins, National Human Genome Research Institute, NIH, Building 31, RM 4B09, Bethesda, MD 20892-2152. E-mail:
[email protected]
Accepted for publication August 29, 2006.
Essential Competencies
2000). However, the evidence shows that despite recommendations and initiatives worldwide to educate nurses,
the progress of nursing competency in genetics and genomics
remains limited (Edwards, Maradiegue, Seibert, Macri, &
Sitzer, 2006; Hetteberg, 1999; Prows, Glass, Nicol, Skirton,
& Williams, 2005). Several years since that recommendation, genetic and genomic content is still inconsistently incorporated into entry-level nursing programs, NCLEX, and
certification examinations.
In a follow-up survey on the amount of genetic and
genomic content in the curricula of basic nursing academic programs, no increase in genetic and genomic content
was found when compared to a similar survey conducted
in 1996 (Hetteberg, Prows, Deets, Monsen, & Kenner,
1999). As of fall 2005, only 30% of academic nursing programs contained a curriculum thread in genetics
and genomics (Edwards et al., 2006; Maradiegue, Seibert, Macri, & Sitzer, 2005; Prows, Calzone, & Jenkins,
2006). Not surprisingly, a recent survey of advanced practice nurses showed that the majority reported they had minimal training and knowledge in genetics (Maradiegue et al.,
2005), and other evidence has indicated that some nurses
have limited appreciation of the relevance of these discoveries to their practice (Pfeil & Luo, 2005). Thus, the nursing profession is not fully competent in the genetics and genomics of health care despite existing resources, established
competencies in genetics and genomics for all health professionals, and published model curricula (Prows et al., 2005).
Many factors contribute to this limited progress. The
relevance of genetics and genomics to nursing practice is not
fully appreciated and many nurses still consider it a subspecialty that is not relevant to the entire profession. Existing
lists of competencies were long and not realistically achievable, given packed curricula and busy professionals with
limited time and resources for continuing education. Insufficient numbers of faculty are prepared to teach this content.
Accrediting bodies do not consider genetics and genomics in
their evaluations. And state boards of nursing do not require
competency in genetics and genomics as part of licensure or
relicensure (Burke, 2006; Prows et al., 2005). Overcoming
these barriers represents an extraordinary challenge given
the size and broad disparity of the nursing workforce and
requires initiatives aimed at expanding existing initiatives
and a centralized, coordinated, evidence-based approach.
The framework from the literature on diffusion of innovation indicates that disseminating, implementing, and
sustaining new innovations depends largely on sufficient
knowledge of the innovation to progress through the phases
of adoption (Rogers, 1962, 1971, 1983, 1995, 2003).
Within this context, the rate of progress for incorporating
genetic and genomic advances throughout the continuum
of health care pertains not only to technologic advances,
which have progressed at an exponential rate, but also to
healthcare providers’ expertise in genetics and genomics to
translate these findings into practice. Progress is especially
complicated in nursing considering that the average age of
registered nurses in the US has increased substantially. RNs
younger than 40 have decreased from 52.9% in 1980 to
31.7% in 2000 to 26.6% in 2004 (U.S. Department of
Health and Human Services, 2005). This shift is relevant
in that older nurses are less likely to have had any genetic
and genomic content in educational programs (Scanlon &
Fibison, 1995). Yet this group is faced with the greatest implications of genetic and genomic advances.
With 2.9 million practicing nursing in the US, educating nurses in a new science is a daunting prospect. Yet efforts to train the nursing workforce in the United Kingdom
(UK), where the average age of nurses is 42, have yielded
some success (Royal College of Nursing, 2005). Their strategy began with a key concept, simplicity. Using a process
of consensus, they established seven measurable, simple, and
achievable essential competencies applicable to the entire
nursing profession in the UK (Kirk, McDonald, Anstey, &
Longley, 2003). Since that time, the U.K. National Health
Service established a multidisciplinary NHS National Genetics Education and Development Centre (http://www.
geneticseducation.nhs.uk) to support genetics education initiatives, provide educational resources for educators, and
serve as a centralized clearinghouse for genetic resources and
materials for all disciplines, including nursing. In addition,
the participants in the Centre identify gaps in educational
initiatives or materials and work to develop needed and appropriate resources.
The model adopted in the UK of honing down the expected competencies to those most essential and applicable
to the entire profession is a compelling approach. First, narrowing the field of expected competencies to just seven overcomes some of the barriers to incorporation into curricula
as the content becomes more manageable and preparing faculty is more reasonable. Second, nursing leaders in professional organizations have realistic achievable competencies
from which to plan for continuing education for practicing nurses. Although the countries’ healthcare systems are
different, the efforts in the UK inspired U.S. nurses and provided a model by which to begin to address the U.S. nursing
workforce’s needs.
Methods
In 2004, the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI) of the
National Institutes of Health (NIH) joined together to begin
planning for a broad genetic and genomic training initiative
for the U.S. nursing workforce. This collaboration was based
in large part on the overwhelming need for oncology nurses
to become proficient in genetics and genomics, because this
specialty is one in which the application of genetics and genomics into practice is already occurring. Comparable to
the UK approach, an initiative was launched to define the
essential genetic and genomic competencies for all registered
nurses in the US, regardless of academic preparation, role,
or clinical specialty.
The first step was to establish a steering committee
that included nursing leaders from clinical, research, and
Journal of Nursing Scholarship
First Quarter 2007
11
Essential Competencies
academic settings, including other NIH institutes and U.S.
DHHS agencies, as well as nursing leaders from professional
nursing organizations. Table 1 shows steering committee
members and their affiliation. The role of the steering committee was to determine a mechanism for establishing essential nursing genetic and genomic competencies and achieving
consensus from the nursing community.
In conjunction, ongoing efforts were underway to obtain funding to support the competency development and
consensus process. Funding was obtained from the NHGRI
and from the Office of Rare Disease.
Competency Development
The steering committee identified, reviewed, analyzed,
and compared competencies recommended in published and
peer-reviewed literature (American Association of Colleges
of Nursing, 1996, 1998, 2001; Centers for Disease Control
and Prevention, 2001; International Society of Nurses in
Genetics, 1998; Jenkins, Dimond, & Steinberg, 2001; Jenk-
Table 1. Steering Committee Members
Co-Chairs:
Jean Jenkins, RN, PhD, FAAN
National Human Genome Research
Kathleen Calzone, RN, MSN, APNG,
FAAN
Institute, NIH
International Society of Nurses in
Genetics
National Cancer Institute, NIH
Members:
Laurie Badzek, RN, MS, JD, LLM
Carolyn Constantin, RNC, PhD
Annette Debisette, RN, DNSc, ANP
Suzanne Feetham, RN, PhD, FAAN
Denise Geolot, RN, PhD, FAAN
Pamela Hagan, RN, MSN
Madeleine Hess, RN, PhD
Dale Lea, RN, MS, MPH, CGC,
APNG, FAAN
Judith Lewis, RNC, PhD, FAAN
Kerry Nesseler, RN, MS
Kathleen Potempa, RN, DNSc,
FAAN
Cynthia Prows, RN, MSN
12
American Nurses Association
Centers for Disease Control and
Prevention
Health Resources and Services
Administration
Health Resources and Services
Administration
Health Resources and Services
Administration
American Nurses Association
Health Resources and Services
Administration
National Human Genome Research
Institute, NIH
Virginia Commonwealth University
Health Resources and Services
Administration
Oregon Health Sciences University
Elizabeth Thomson, RN, DNSc,
CGC, FAAN
Melinda Tinkle, RN, PhD
Cincinnati Children’s Hospital Medical
Center
National Human Genome Research
Institute, NIH
National Institute of Nursing Research,
Janet Williams, RN, PhD, FAAN
NIH
University of Iowa
First Quarter 2007
Journal of Nursing Scholarship
ins, Prows, Dimond, Monsen, & Williams, 2001; National
Coalition for Health Professional Education in Genetics,
2000). These documents indicated competency recommendations targeted at diverse audiences including all healthcare professionals, those in specialty genetics practice, and
a subset of nurses with bachelor’s degrees, advanced practice nurses, and public health professionals. A writing group
consisting of members of the steering committee was established to analyze and synthesize these documents to identify
fundamental genetic and genomic competencies applicable
for all registered nurses. A draft of the competencies was
reviewed and approved with modifications by the steering
committee.
For a second level of review, the draft competencies were
presented to nurse representatives to the National Coalition
for Health Professional Education in Genetics (NCHPEG) in
January 2005. The revised draft was posted by the American
Nurses Association (ANA) for public comment in 2006. This
posting included announcements to ANA members, organizational affiliates, and the members of the Nursing Organization Alliance. In an extensive period for public comment,
only 10 public comments were received, most indicating support for the competencies. All comments were recorded and
reviewed by the writing group, and appropriate revisions
were made. A final draft of the competencies was reviewed
and approved by the steering committee.
Process of Consensus
The final aspect of consensus was an in-person meeting
with key stakeholders from the nursing community. Stakeholders included representatives from certifying and accrediting bodies, National Council of State Boards of Nursing,
minority nursing organizations, and professional nursing organizations. All members of the Nursing Organizations Alliance were invited to send representatives. On September 21
and 22, 2005, 50 key stakeholders convened to learn more
about genetics, genomics, and the implications for nursing
practice, as well as to review, revise, and come to consensus on essential genetics and genomic competencies for the
entire U.S. nursing workforce. By the end of the meeting
unanimous consensus was achieved. Additional information
about the meeting, speakers, and the initiative can be found
at http://www.nursingworld.org/ethics/genetics/
In summary, the essential competencies (Table 2) do not
represent the opinions or position of a single nursing organization or government body. Instead, the competencies were
developed by an independent panel of nurse leaders from
clinical, research, and academic settings. The competencies
expand existing standards of nursing practice by specifying
genetic and genomic knowledge and skills for all nursing
education and practice.
Results
At the September 2005 meeting, discussion occurred
about specific competencies based on common definitions
Essential Competencies
Table 2. Essential Competencies
Domain
Professional
responsibilities
Competencies
All registered nurses are expected to engage in professional role activities that are consistent with Nursing: Scope and Standards of
Practice, 2004, American Nurses Association. In addition, competent nursing practice now requires the incorporation of genetic and
genomic knowledge and skills in order to:
• Recognize when one’s own attitudes and values related to genetic and genomic science may affect care provided to clients.
• Advocate for clients access to desired genetic/genomic services and/or resources including support groups.
• Examine competency of practice on a regular basis, identifying areas of strength, as well as areas in which professional development
related to genetics and genomics would be beneficial.
• Incorporate genetic and genomic technologies and information into registered nurse practice.
• Demonstrate in practice the importance of tailoring genetic and genomic information and services to clients based on their culture,
religion, knowledge level, literacy and preferred language.
• Advocate for the rights of all clients for autonomous, informed genetic and genomic-related decision-making and voluntary action.
Professional
practice
Nursing assessment: applying and integrating genetic and genomic knowledge
The registered nurse:
• Demonstrates an understanding of the relationship of genetics and genomics to health, prevention, screening, diagnostics,
•
•
•
•
prognostics, selection of treatment, and monitoring of treatment effectiveness.
Demonstrates ability to elicit a minimum of three-generation family health history.
Constructs a pedigree from collected family history information using standardized symbols and terminology.
Collects personal, health, and developmental histories that consider genetic, environmental, and genomic influences and risks.
Conducts comprehensive health and physical assessments which incorporate knowledge about genetic, environmental, and genomic
influences and risk factors.
• Critically analyzes the history and physical assessment findings for genetic, environmental, and genomic influences and risk factors.
• Assesses clients’ knowledge, perceptions, and responses to genetic and genomic information.
• Develops a plan of care that incorporates genetic and genomic assessment information.
Identification
The registered nurse:
• Identifies clients who may benefit from specific genetic and genomic information and/or services based on assessment data.
• Identifies credible, accurate, appropriate and current genetic and genomic information, resources, services and/or technologies
specific to given clients.
• Identifies ethical, ethnic/ancestral, cultural, religious, legal, fiscal, and societal issues related to genetic and genomic information
and technologies.
• Defines issues that undermine the rights of all clients for autonomous, informed genetic and genomic-related decision-making and
voluntary action.
Referral activities
The registered nurse:
• Facilitates referrals for specialized genetic and genomic services for clients as needed.
Provision of education, care, and support
The registered nurse:
• Provides clients with interpretation of selective genetic and genomic information or services .
• Provides clients with credible, accurate, appropriate and current genetic and genomic information, resources, services, and/or
technologies that facilitate decision-making.
• Uses health promotion and disease prevention practices to:
• Considers genetic and genomic influences on personal and environmental risk factors.
• Incorporates knowledge of genetic and/or genomic risk factors (e.g., a client with a genetic predisposition for high cholesterol who
can benefit from a change in lifestyle that will decrease the likelihood that the genetic risk will be expressed) .
• Uses genetic and genomic-based interventions and information to improve clients’ outcomes.
• Collaborates with healthcare providers in providing genetic and genomic healthcare.
• Collaborates with insurance providers and payers to facilitate reimbursement for genetic and genomic healthcare services.
• Performs interventions and treatments appropriate to clients’ genetics and genomic healthcare needs.
• Evaluates impact and effectiveness of genetic and genomic technology, information, interventions, and treatments on clients’
outcome.
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Essential Competencies
Table 3. Endorsing Organizations
Academy of Medical-Surgical Nurses
Academy of Neonatal Nurses LLC
American Academy of Ambulatory Care Nursing
American Academy of Nursing
American Association of Colleges of Nursing
American Association of Neuroscience Nurses
American Association of Occupational Health Nurses
American Nephrology Nurses Association
American Nurses Association
American Nurses Credentialing Center
American Psychiatric Nurses Association
American Radiological Nurses Association
American Society of Pain Management Nursing
American Society of Plastic Surgical Nurses
Association of Pediatric Oncology Nurses
Association of Perioperative Registered Nurses
Association of Women’s Health, Obstetric and Neonatal Nurses
Council of Cardiovascular Nursing of the American Heart Association
Council of International Neonatal Nurses
Dermatology Nurses Association
Developmental Disabilities Nurses Association
Genetic Alliance
Hospice and Palliative Nurses Association
International Society of Nurses in Genetics
March of Dimes
National Association of Clinical Nurse Specialists
National Association of Hispanic Nurses
National Association of Neonatal Nurses
National Association of Orthopedic Nurses
National Association of Pediatric Nurse Practitioners
National Coalition of Ethnic Minority Nurse Associations
National Conference of Gerontological Nurse Practitioners
National Gerontological Nursing Association
National League for Nursing
National League for Nursing Accrediting Commission
National Nursing Staff Development Organization
National Organization of Nurse Practitioner Faculties
Oncology Nursing Society
Pediatric Endocrinology Nursing Society
Philippine Nurses Association of America
Sigma Theta Tau International
Society for Vascular Nursing
Society of Pediatric Nurses
Society of Urologic Nurses and Associates
Southern Regional Education Board Council on Collegiate Education
for Nursing
Endorsing schools of nursing
Johns Hopkins University School of Nursing
Nell Hodgson Woodruff School of Nursing, Emory University
that are foundational to nurses’ understanding of the expectations in the Essentials document. Two key definitions are:
(a) genetics: study of individual genes and their effects on
relatively rare single gene disorders (Guttmacher & Collins,
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First Quarter 2007
Journal of Nursing Scholarship
2002); and (b) genomics: study of all the genes in the human genome together, including their interactions with each
other, the environment, and other psychosocial and cultural
factors (Guttmacher & Collins, 2002). These two definitions remain a work in progress because the new knowledge
produced by genome research will create an ongoing need
to assess and revise understanding of the influence of genetic and genomic factors for health outcomes. For the purpose of the Essentials document, both genetic and genomic
information are used as the context for defining required
competencies. Additionally, the following definitions were
included for clarity: (a) clients: recipients of health care may
include individuals, families, communities, and populations
from any race, ethnicity or ancestry, culture, or religious
background. The term clients is used throughout the Essentials document to reflect the focus of nursing care; (b)
services: the delivery of genetic and genomic health care; (c)
resources: genetic and genomic tools and sites for healthcare
referrals for delivery of nursing care; (d) technology: the use
of tools or machines to perform tasks, in this case the identification and assessment of genetic and genomic information
(e.g., the use of micoarray technology to assess the genetic
features of a specific tumor); and (e) pedigree: a graphic illustration of a family health history using standardized symbols
(Bennett et al., 1995).
After much discussion, the essential competencies
agreed upon through consensus were approved by the representatives at the September 2005 meeting with the plan
to send the final document to all nursing organizations for
endorsement. The essential competencies (Table 2) apply
to all registered nurses, with the expectation that competent nursing practice now requires the incorporation of genetic and genomic knowledge and skills. Table 3 shows
the professional nursing organizations that have endorsed
the Essentials document. Nursing organizations through
endorsement of this document have agreed with the content and will also support and promote initiatives within
their own organizations to implement the competencies.
Because research advances will necessitate frequent revisiting of competency expectations, the term of endorsement
is 5 years. Unsolicited endorsement from two schools of
nursing has also been received. Additionally, two groups
concerned about consumer health have provided recognition of the importance of genetic and genomic nursing
competency through their endorsement of this document.
Updates of endorsing organizations can be retrieved from
http://www.nursingworld.org/ethics/genetics. A monograph
version of the Essentials document is also available (A limited number of print copies are available from NHGRI,
NIH Bldg 31 Rm. 4B09 Bethesda, MD 20892–2152 or the
electronic file can be accessed at http://www.genome.gov/
17517037 or http://www.nursingworld.org/ethics/genetics).
Despite extensive efforts, not all professional nursing
organizations responded to our request for consideration
of genetic and genomics nursing competency document review. Others declined to endorse the document citing reasons such as “not considered a priority for members,”
Essential Competencies
“insufficient time to devote to this subject,” and “insufficient resources.” With time, planning, and dedicated resources, all professional nurses should become aware of the
importance of these competencies for them and their constituency.
Next Steps
Now that consensus has been achieved regarding the
importance of genetic and genomic nursing competency, the
next step is to formulate a strategic action plan. The ultimate
goal is to make the Essentials a living document that brings
new life into the integration of genetic and genomic competency throughout education, practice, and regulation and
quality control. This is a crucial time during which plans
are underway to engage the nursing community in establishing action plans for implementation. Representatives of
select endorsing nursing organizations have been invited to
be part of an advisory group to plan for these next steps.
Through conference calls and meetings a strategic plan for
implementation and outcome evaluation will be finalized.
The progress of this effort in the US has universal implications for nurses worldwide. Partnering with other disciplines and with nurses from other countries can lead to
insights and opportunities not yet considered. Steps to consider efforts to improve international nursing competency in
genetics and genomics will also be considered.
Conclusions
Integrating genetic and genomic information into all
aspects of nursing practice requires that multiple building
blocks be put in place through a multipronged strategic plan.
Addressing the needs of faculty, practicing nurses, and regulatory agencies will begin to provide those building blocks
to reshape the environment in which nurses learn, provide
clinical care, and demonstrate competency. This rebuilding
effort will require a significant investment. Incremental and
cumulative rewards of such an investment will result in optimized health care that integrates genetic and genomic information. Of utmost importance to the success of this initiative is establishing the relevance of genetics and genomics
to the nursing community. To achieve these goals requires
focus on research, practice, and education aimed at preparing the nursing workforce with special attention to translating genetic and genomic knowledge into practice. Nurse
awareness and adoption of the competencies as outlined in
the Essentials document is the beginning, a foundation from
which to now build.
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