AACN Clinical Issues
Volume 13, Number 4, pp. 492-500
© 2002, AACN
Education for Genetics and
Nursing Practice
Janet K. Williams, PhD, RN, CPNP, CGC, FAAN
New human genetics discoveries are emerging from the Human Genome Project and
privately funded genetic research programs.
In the current phase of scientific discovery, a
comprehensive human genome map is being completed, genes are being associated
with specific diseases, relations between genetic characteristics and drug response are
being identified, and potential new treatments are being explored. As genetic discoveries are made, they are announced quickly
to the public with the expectation that they
will lead to new and better options for promotion of health and prevention of disease.
Despite the rapid pace of genetic discovery, scientific knowledge for the clinical application of new genetic discoveries is not
yet fully developed. The state of knowledge
currently is in a time lag between the moment when new genetic discoveries are
made and the point at which scientific
knowledge necessary for clinical applications has been developed.1 This time lag is
apparent in both nursing practice and overall healthcare delivery. Nurses are challenged to integrate new genetic information
into their nursing care. They must determine
■ Genetic factors influence the risk for
disease, selection of treatments, and
overall health of persons throughout the
life span. Nurses in critical care practice
participate in assessing genetic risks for
disease, implementing treatments,
educating people about genetic aspects
of health and disease, supporting the
client’s abilities to cope with the
information, and assisting the individual
and family to make health-related
decisions involving genetic information.
Opportunities for critical care nurses to
become knowledgeable about genetic
aspects of critical care nursing exist
through academic courses, continuing
education, and summer institutes.
Recently, new guidelines for the genetic
education of nurses have been
developed. However, genetic education
opportunities are not available to all
nurses throughout the United States.
Genetic nursing education programs
based on guidelines for integration of
genetic knowledge into professional
nursing practice are needed.
(KEYWORDS: nursing education,
advanced practice nursing, genetic
counseling, genetic testing)
▪▪▪▪▪▪▪▪▪▪
From the University of Iowa, Iowa City.
Reprint requests to Janet K. Williams, PhD, RN,
CPNP, CGC, FAAN, 338 Nursing Building, University
of Iowa, Iowa City, IA 52242 (e-mail: janet-williams@
uiowa.edu).
492
Vol. 13, No. 4 November 2002
EDUCATION FOR GENETICS AND NURSING
whether current nursing interventions are
appropriate for people with specific genetic
risks for disease and those who may be receiving new therapies based on genetic research. Nurses must become knowledgeable
about genetics and its application to clinical
practice so they can develop appropriate genetic nursing interventions for people requiring critical care nursing and help people
use genetic discoveries in a positive way.
Nursing
Skills and Genetic
Healthcare
The application of genetic concepts to nursing practice began in the 1970s with nurses
who functioned as genetic clinic coordinators, providing genetic counseling to persons who had genetic conditions or were at
risk for such disorders. Many of these nurses
were nurse practitioners or had been educated as clinical nurse specialists. They applied their knowledge of patient care management to the new field of genetic nursing.
Newborn metabolic screening programs and
prenatal diagnostic clinics were some of the
first places in which nurses practiced genetic
nursing.2
Before the 1990s, most genetic healthcare
services focused on the diagnosis and management of relatively uncommon conditions
with specific patterns of inheritance. The
discussion of genetic information often
occurred in outpatient settings where recurrence risk, disease-related information,
and health management decisions were
discussed with individuals and their families.
In the early 1990s, however, the mapping and cloning of the BRCA1 gene for
familial breast cancer created the opportunity for genetic information to be used in
identifying risk for a portion of the population with a family history of a common
disease.3,4 The discovery of this gene made it
possible to offer predictive genetic testing to
individuals with a strong family history of
breast or ovarian cancer, and to begin the investigation of potentially beneficial genebased therapies. The discovery of genetic
factors associated with common diseases,
such as cancer, has given rise to the need for
nurses to use this information in their own
493
assessments and intervention decisions for
patients undergoing medical care for more
common diseases.
One important development throughout
nursing and other health professions has
been the creation of standards that describe
what skills healthcare providers are expected to have with regard to genetic information. Several documents have been issued
that describe the outcomes of genetic education for nurses, showing how professional
nurses should be able to apply knowledge
of clinical genetics in their nursing practice.
The International Society of Nurses in Genetics (ISONG) has developed a statement
on the scope and standards of genetics clinical nursing practice that describes the incorporation of understanding of genetics into
professional nursing practice at the basic
and advanced levels.5 Regardless of their
practice level, nurses should be able to participate in collecting and obtaining genetic
history information, offer genetic information, and provide explanations of genetic resources; participate in the informed consent
and informed decision-making process; participate in the management of patients who
have conditions with a genetic component;
and evaluate and monitor the impact of genetic conditions, testing, and treatments on
the person and the family.5,6
The American Association of College of
Nursing, also has included genetic knowledge as a basis for skills essential to the
practice of nursing. In their statement describing essential standards for baccalaureate
nursing education programs, this organization recognizes that “advances in genetic
knowledge and interventions will have a
major impact on the health status of individuals and populations.”7(p1) It also specifies
that all professional nurses should be able to
include a genetic history in an individual’s
risk assessment.
Not only are nursing organizations addressing this issue, but many healthcare professions also are recognizing the need to
prepare their clinicians to use genetic discoveries in their areas of practice.
In 1994, a statement by a committee of the
Institute of Medicine predicted that nurses
and other healthcare providers are likely to
play a critical role in providing genetic services. The committee noted that education
494
WILLIAMS
would be needed in the ethical, legal, and
social issues surrounding genetic diagnosis,
testing, and screening.8 The National Coalition for Health Professional Education in
Genetics is an organization that represents
approximately 100 health profession organizations including the American Association
of Critical-Care Nurses.9 This organization
has issued a statement that describes 44 specific genetics core competencies of knowledge, skills, and attitudes that are essential
for healthcare professionals. Although these
core competencies do not represent a comprehensive description of activities that professional nurses would be able to provide,
they are a foundation upon which education
programs for nurses can be built.
These statements all reflect awareness by
professional nursing and interdisciplinary
health organizations that nursing is an essential component of genetic healthcare delivery, and that education in genetics will enrich nursing practice. Although guidelines
from professional organizations and accrediting bodies identify the need for nurses to
have education on genetic topics, the expectation for nurses to be knowledgeable regarding genetic content is not yet reflected
in questions on licensing or most certification examinations. In a survey involving 42
state boards of nursing, only 10% reported
that genetics was included in their requirements for education programs leading to
registered nurse licensure.10 Opportunities
for nurses to become educated about genetics through basic, graduate, and continuing
education are available. However, these are
not widespread, and many gaps exist in genetics education for nurses.
Basic
Nursing Education
The recognition that nurses must be knowledgeable in genetics as a basic foundational
science is not new. Two nurse educators
recommended 40 years ago that human genetics be placed in nursing curricula.11 This
was echoed with a recommendation to require a human genetics course in basic nursing education.12
The ability to understand basic genetic
concepts is critical for professional nurses
who provide nursing care to patients whose
AACN Clinical Issues
illnesses have genetic components. Despite
the logic of this statement, the inclusion of a
human genetics course in nursing programs
has been very slow, and only a few have
made this important change. One obstacle
has been the difficulty of making changes in
prerequisite basic science courses in a curriculum. Another is the absence of faculty
prepared to teach the clinical genetic content that builds on the basic human genetics
concepts.
One strategy for addressing the need for
faculty to teach clinical genetics topics in
nursing programs is the Genetics Program
for Nursing Faculty at the Cincinnati Children’s Hospital Medical Center. Currently in
its sixth year, this program has educated
more than 150 faculty in registered nurse
preparatory schools throughout the United
States. Data from 60 faculty involved during
the first 2 years of the program show how
they applied the content in their own programs. The most common strategies were
discussion of genetics with school administrators (92%) and faculty (88%). Most of the
participants had added genetics content to
their lectures (75%), and approximately one
third (38%) were participating on curriculum
committees in their institutions. The first
Web-based Genetics Institute begins in
2002.13 Contact information for selected
nursing genetic education resources is listed
in Table 1.
Basic components of genetics nursing education have been identified as essential for
practicing nurses. At a National Institutes of
Health meeting in 1995, 24 representatives
of nursing specialty organizations, including
the American Association of Critical-Care
Nurses, expressed interest in educating their
members about the implications of genetics
for their practice.14 Through discussions with
nursing organization representatives, a template for a core curriculum was developed.
Ten themes of content were validated by 175
respondents from ISONG and the Oncology
Nursing Society Genetics Specialty Interest
Group.15 This core curriculum includes genetic topics essential for nurses in all areas of
nursing practice (Table 2).
Opportunities for integrating genetic content in existing nursing courses throughout
undergraduate education were described by
Lashley.16 Examples that may support the
Vol. 13, No. 4 November 2002
EDUCATION FOR GENETICS AND NURSING
495
TABLE 1 Genetics Education Resources
Genetics Program for Nursing Faculty
Cynthia Prows, RN, MSN
Cincinnati Children’s Hospital Medical Center
Cincinnati, Ohio 45229
cindy.prows@chmcc.org
A Practice-b
based Genetics Curriculum
for Nurse Educators
Dale Lea, RN, MPH, FAAN
Foundation for Blood Research
PO Box 190
Scarborough, ME 04070-0190
Betty Gallucci, RN, PhD
University of Washington
Biobehavioral Nursing and Health Systems
Box 357266
Seattle, WA 98195-7266
Marcia Hern, EdD, RN
University of Cincinnati
College of Nursing
3110 Vine Street
Cincinnati, OH 45221-0038
Marcia.hern@uc.edu
dlea@fbr.org
Genetics and Nurse Practitioner Program
Genetics & Your Practice
Sarah Sheets Cook, RNC, MEd
March of Dimes
PO Box 1657
Wilkes-Barre, PA 18703
Fax: 570-825-1987
Columbia University School of Nursing, Genetics
Education for APN
630 W. 168th St., Box 6
New York, NY 10032
Advanced Practice Nurse in Genetics
Credentialing Program
31 Center Drive, Room 5B-13
International Society of Nurses in Genetics, Inc.
Bethesda, MD 20892-2718
Rita Black Monsen, DSN, MPH, RN
sgi@mail.nih.gov
NINR Summer Genetics Institute
monsenr@ipa.net
Post Doctoral Clinical Nursing Research Fellowship
Genetics Advanced Practice Nurses
Janet K. Williams, RN, PhD, FAAN
International Society of Nurses in Genetics, Inc.
338 Nursing Building
The University of Iowa
Iowa City, IA 52242
Eileen Rawnsley, Executive Director
7 Haskins Rd.
Hanover, NH 03755
Eileen.Rawnsley@valley.net
Genetics Advanced Practice Nursing Masters or
Post Masters Programs
Janet K. Williams, RN, PhD, FAAN
338 Nursing Building
The University of Iowa
Iowa City, IA 52242
preparation of nurses for critical care include
addressing genetic influences of diseases, issues surrounding genetic testing, genetic factors in communicable diseases, and pharmacogenetics topics. The nursing programs at
the University of Iowa and Villanova University have used this model that integrates ge-
netic content throughout the nursing core
and elective courses.17
Curriculum materials also have been developed for nurse educators who wish to include specific concepts into undergraduate
nursing education. The Practice-Based Genetics Curriculum for Nurse Educators in-
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WILLIAMS
TABLE 2 Genetic Content
for Basic Nursing
Education
Indications for a genetic referral
Basic human genetics
Ethical and societal issues of genetics
Appropriate genetic disorder, genetic healthcare,
and support services resources
Psychologic impact of genetics on the individual,
family, and society
Genetic evaluation and counseling
Relevance of genetics to nursing practice
New genetic methods for diagnosis and treatment
Ethnocultural differences
Own attitudes and values regarding genetic science and services
Adapted with permission.15
cludes modules on prenatal topics, diagnoses of genetic conditions, and the Human
Genome Project, as well as ethical, legal,
and social issues related to application of genetic technologies to nursing practice.18 This
curriculum is useful for nurse educators at
the undergraduate and graduate levels. For
acute care nurses, the modules on ethical, legal, and social issues in genetic testing, and
those on late diagnosis and presymptomatic
testing of genetic conditions may be especially pertinent. Additional materials are
available through the March of Dimes. Although most of its materials are focused on
maternal-child health nursing, the March of
Dimes has produced a CD-ROM entitled Genetics and Your Practice, which provides
content on genetic information, including
adult-onset diseases.19 Nurse educators also
may identify advanced nurse practitioners in
genetics through ISONG who could provide
guest lectures or contribute in other ways
such as offering clinical experiences, identifying families who could speak to students
on their experiences with genetic healthcare,
or suggest resources on specific genetic
nursing topics at the basic nursing level.
Distance learning opportunities are being
developed, and many are in the initial stages
of production. A National Institutes of Health
(NIH)-funded Web-based course on Family
as Context for Clinical Genetics currently is
being produced by a team headed by Dr Ca-
AACN Clinical Issues
role Kenner at the University of Illinois in
Chicago. An interactive CD-ROM on ethics
and genetic testing is being developed at
The University of Iowa. Drs Janet Williams
and M. Patricia Donahue are creating a CDROM that will include modules on ethics, genetic testing, and case studies, in which
nurses can apply ethics and genetics principles in two clinical situations. This project is
being funded by the Ethical, Legal and Social
Issues research program of the National Human Genome Research Institute. Additional
Web-based courses under development
should be available within the next few
years. Nurses who want to find continuing
education opportunities can contact the executive director of ISONG to obtain the
name of a genetic nurse in their area. These
nurses may be able to identify continuing
education lectures or programs on genetic
topics of interest to nurses.
Nurses in basic nursing degree programs
who are interested in increasing their knowledge of genetic topics traditionally have negotiated genetic clinical experiences and independent study opportunities. These
nurses have devised individualized plans of
study that involved basic genetic science
courses, electives, and clinical nursing experiences with patients who have genetic
health problems. Many nursing students
completing degrees in institutions that do
not have formal genetic nursing courses will
need to use this approach. This necessity is
likely to continue until most nursing programs implement specific genetic content either throughout their curriculum or in focused genetic nursing courses.
Graduate
Nursing Education
Knowledge of clinical genetics topics is
needed by advanced practice nurses who
specialize in genetic nursing and those who
are specialists in a specific area of nursing
such as critical care.20,21 Two specialty nursing organizations have recognized the importance of genetic knowledge for their
members, and these organizations have issued statements that describe expectations
for nurses who assist their patients in using
genetic information. These two organizations are the Association of Women’s Health,
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EDUCATION FOR GENETICS AND NURSING
Obstetric, and Neonatal Nurses (AWHONN)
and the Oncology Nursing Society. The
AWHONN statement emphasizes the importance of preparation for nurses who participate in the care of women and newborns
undergoing or being considered for genetic
testing and treatment.22 In 1998, the Oncology Nursing Society published statements on
The Role of the Oncology Nurse in Cancer
Genetic Counseling, and on Cancer Genetic
Testing and Risk Assessment Counseling.23,24
The standards of practice for general oncology nurses, clinical specialist oncology
nurses, and genetics oncology clinical specialists are the basis for education recommendations to be published next year.25
Whereas these two organizations have
begun the process of defining what expert
nurses need to know about genetics to apply this knowledge in their clinical practice, many other specialty organizations
have not yet developed descriptions for application of genetic information in their
specific area of nursing practice. Content
that forms the foundation of genetic education in Master’s nursing education for advanced practice nurses is listed in Table 3.
These topics are necessary for preparing
advanced practice nurses to integrate genetic knowledge into their practice, regardless of their specialty.
A clinical nurse specialist role in genetics was first described in the 1980s for
nurses who provide genetic counseling
and advanced practice nursing as members
of medical genetics teams.26 These nurses
work in a variety of settings such as medical genetics clinics, familial oncology diagnostic and treatment programs, and genetic
disease management programs. A credential that recognizes advanced practice
nurses in genetics was implemented by
ISONG in 2001, including the education
needed by nurses who apply for the advanced nurse practitioners in genetics
(APNG[c]) credential. For the first 5 years
of the credentialing program, nurses who
wish to apply for this credential can acquire the necessary education through academic or continuing education.21
Several options for obtaining graduate
academic and clinical courses in advanced
practice genetic nursing are available.
However, only a few programs have these
497
options, and at this time, each requires oncampus attendance, limiting the number of
students who can attend these programs.
Specific graduate programs at the University of Iowa and the University of Washington prepare nurses to be advanced practice nurses in genetics. Several graduate
nursing programs, such as the University
of Cincinnati, are exploring ways to offer
post-Master’s certificates in advanced practice genetic nursing. These opportunities
may be most appropriate for nurses with
advanced practice skills in a specific specialty area who wish to increase their abilities to provide advanced practice genetic
nursing in that area.
Another genetics education option in
Master’s nursing education involves integrating content into existing courses or adding
courses for students who will become nurse
practitioners or clinical nurse specialists in
areas such as oncology. In one such program at Columbia University, students complete didactic and clinical courses that complement their advanced practice focus in
one of the nurse practitioner programs. Several graduate schools, such as those at
Emory University and Johns Hopkins University, also include genetic content in advanced practice courses.
In addition to completing Master’s programs in preparation for advanced clinical
practice, nurses also are pursuing education
in genetics at the doctoral level to prepare
themselves for careers in genetic nursing research and education. Although no formal
doctoral programs in genetic nursing have
yet been established, nurse scholars are developing their own programs of study that
focus on genetic nursing research topics.
The Summer Genetics Institute, offered by
the National Institute of Nursing Research
(NINR), is one education opportunity for
predoctoral or postdoctoral nursing scholars
who have an interest in genetic nursing research. This intensive training program is designed to prepare nurse scholars to engage
in a formal program of study with classroom
and laboratory components on genetics.
One postdoctoral training program also has
been funded by the NINR. The first NINRfunded postdoctoral fellowship training program was started at the University of Iowa in
2000.
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WILLIAMS
AACN Clinical Issues
TABLE 3 Genetic Content for Master’s Nursing Education for Advanced
Nursing Practice
Genetic mechanisms influencing human health and illness
Genetic and environmental factors involved in etiology of Mendelian disorders and genetically complex
common disorders
Family genetic history and physical assessment for Mendelian disorders and genetically complex common
disorders
Health risk implications of Mendelian disorders and genetically complex common disorders for family
members
Health promotion in persons and families with Mendelian disorders and genetically complex common
disorders
Individual, family, and societal responses to genetic information
Integration of genetic healthcare into healthcare systems for individuals, families, and communities
Relationships among culture, ethnicity, socioeconomic status, and demographic characteristics and use of
genetic healthcare services
Purposes, potential benefits, harms, and limitations of genetic tests for individuals, families, and society
Ethical aspects of decisions regarding genetic tests and management options
Management of disease and risk factors for Mendelian disorders and genetically complex common
disorders
Relationships between genetic characteristics and variable drug response in individuals
Collaboration with genetic healthcare specialists and interdisciplinary healthcare providers
State
of Education for Genetics
and Nursing Practice
Several important advances in genetic nursing have been made since Brantl and
Esslinger urged nurse educators to “organize
elementary human genetics as an integral
part of the nursing curriculum.”11(p91) Some
basic nursing education programs currently
include genetic risk content in their assessment courses in response to the standards issued by the American Association of Colleges
of Nursing. Faculty who have attended summer genetics training institutes are incorporating genetic content into their courses, and
their nursing students are expected to be informed about genetic aspects of health and
illness in a variety of acute, chronic, and
community healthcare settings. Two textbooks on genetics and nursing have been
published.6,27 Curriculum modules are available to support educators,18 and two intensive summer genetics institutes are available
to prepare faculty and nurse researchers.
Standards have been published for genetic
nursing practice, and a credential is now
available to recognize those who meet standards of the nursing profession with regard
to advanced practice nursing in genetics.
Standards for educational preparation have
been written for clinical nurse specialists in
oncology. Nurse researchers have begun to
include genetic methods in their programs of
research, such as Dr Martha Hill’s investigation into genetic aspects of hypertension and
Dr Debra Schutte’s study on genetic aspects
of Alzheimer disease.28,29
Despite these tremendous advances, opportunities for nurses to become informed
about genetics are limited and accessible only
to those who can physically attend classes
and continuing education meetings. Education efforts also are limited by the relatively
small proportion of faculty who are knowledgeable about genetic topics, and by the
small number of expert nurse clinicians who
can mentor undergraduate and graduate nursing students. Most, if not all, education opportunities are available through textbooks,
articles, on-campus classes, or continuing education opportunities. Web-based instruction
on genetic nursing is being developed.
Strategies
for Future Genetic
Nursing Education
The profession of nursing has several challenges to meet in addressing the need for genetic education for nurses. Genetics is a ba-
Vol. 13, No. 4 November 2002
EDUCATION FOR GENETICS AND NURSING
sic science that is foundational to the understanding of inherited factors influencing
health and illness. Nursing education in genetics will be more meaningful when all
nurses complete a human genetics course as
a part of their basic or advanced nursing education. The integration of genetic concepts
throughout the nursing curriculum and
courses that focus on specific populations or
genetic health problems are needed in basic
and advanced practice nursing programs.
The guidelines for practice issued by the National Coalition for Health Professional Education in Genetics and the American Association of Colleges of Nursing, as well as the
recommended guidelines for Master’s nursing genetic education (Table 3) provide templates for the development of this nursing
content.7,9,14,15
To educate nurses in genetic topics that
influence human responses to health and illness, the profession of nursing must consider
several strategies. Standards of care from all
professional nursing organizations and education opportunities are urgently needed to
address genetic education needs of nurses
who practice in a variety of settings and with
specific populations. Endorsement of genetic
knowledge has been articulated by several
nursing organizations. However, standards
for practice in genetic healthcare acute care
nursing have yet to be developed. In addition, regulatory bodies must articulate what
genetic competencies are expected at each
level of nursing practice.
Although some excellent instructional materials are available, these tend to focus on
ethics, genetic testing, and the diagnostic
and information-giving phases of genetic
nursing. Little information is available yet to
guide the practice of nurses who care for patients with complex chronic genetic illnesses
or those in the acute phases of their diseases. One exception is a description of
nursing care for patients with genetic disorders in an intensive care unit.30 Articles that
highlight genetic topics of concern in perioperative nursing and gerontology nursing
have been published, but much more is
needed to provide a comprehensive basis
for these aspects of nursing practice.31,32 Information on pharmacogenomics is becoming available,33,34 and advanced practice
nurses will need to be prepared to incorpo-
499
rate discoveries of genetic aspects of individual drug responses into their clinical practice. Genetic information will continue to
change with new discoveries in genetic science. It is imperative that nursing develop a
body of knowledge to guide genetic nursing
practice for individuals with acute nursing
care needs and for people receiving nursing
care, regardless of the healthcare setting.
Summary
Nurses provide nursing care to individuals,
families, and communities with diseases or
at risk for diseases that have a genetic component. Such nursing care has evolved from
the care of individuals with rare inherited
conditions to the management of common
conditions for which genetic components
are being identified. Resources are emerging
to support the integration of core genetic
nursing content into all levels of nursing education. Standards for the application of genetic discoveries to clinical practice are
needed for all aspects of advanced nursing
practice. An organized and focused effort by
nurse educators is needed to prepare nurses
to apply genetic knowledge in professional
nursing practice.
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