Advancing genetic nursing knowledge

Janet K. Williams, PhD, RN, FAAN

Toni Tripp-Reimer, PhD, RN, FAAN
Debra Schutte, PhD, RN
J. Jackson Barnette, PhD

Although genetic discoveries affect nursing education, practice, and research, the use of genetic principles in research design and methodologies is a
recent approach in nursing science. This article describes results of a needs assessment to identify barriers and strategies to overcome problems encountered by nurse scholars in the integration of genetic
principles into nursing investigations. A Delphi survey
was conducted with attendees at a nursing genetics
research consensus meeting. Understanding genetics,
need for sensitive measures, limited resources, and
difficulties in networking were major themes identified
as barriers. Key strategies include educational preparation, appropriate research methods, institutional
support, and research collaboration. Nurses must understand genetics in order to participate in knowledge
discovery regarding relationships between genetics,
health, and nursing. Integration of genetic concepts
into nursing science requires development of collegial
relationships among nursing researchers, as well as
with those in genetics and related disciplines.

esearch that targets or incorporates genetics is an

essential component of nursing science in the 21st
century.1,2 There has been a conspicuous absence
of a genetics focus in nursing research.3 Identifying and
integrating genetic factors in nursing research is a new
experience for many nurse scholars. Although genetic
health research opportunities are expanding for nurse
scientists, some scholars may lack the necessary educational, collegial, professional, and/or institutional resources to initiate and sustain a program of research that
incorporates genetic concepts. In 2000, a regional
consensus conference, supported by a grant from the

Janet K. Williams is a Professor at the College of Nursing, The

University of Iowa, Iowa City, IA.
Toni Tripp-Reimer is a Professor at the College of Nursing, The
University of Iowa, Iowa City, IA.
Debra Schutte is an Assistant Professor at the College of Nursing, The
University of Iowa, Iowa City, IA.
J. Jackson Barnette is an Associate Professor at the College of Public
Health, The University of Iowa, Iowa City, IA.
Reprint requests: Janet K. Williams, PhD, RN, FAAN, The University of
Iowa, College of Nursing, 338 Nursing Building, Iowa City, IA 52242.
E-mail: [email protected]
Nurs Outlook 2004;52:73-9.
0029-6554/$see front matter
2004 Elsevier Inc. All rights reserved.
doi:10.1016/j.outlook.2003.10.013

Ethical, Legal, and Social Issues (ELSI) Research

Program, National Institutes of Health (NIH) (R13
HG02227-01), was held at The University of Iowa
College of Nursing. The purpose of the conference was
to: (1) Present state-of-the-science information on genetic discoveries and related ethical, legal, and social
issues affecting human health and nursing practice, (2)
create a nursing research consortium to facilitate multisite research initiatives, and (3) develop collaborative
strategies to plan, conduct, disseminate, and maintain
multi-site genetic nursing research. Following the conference, a Delphi survey was conducted with participants to identify barriers and facilitators to overcome
barriers to the development of genetic nursing research.
Results from this project contributed to development of
new collegial and training opportunities for nurse scholars to further their abilities to incorporate genetics into
their programs of research.

BACKGROUND
Since the 1950s when the number of chromosomes in
the human genome,4 and the double helix structure of
DNA5 were both discovered, nurses have applied genetic knowledge in their nursing practice. However,
until very recently, new knowledge regarding the relationships between genetics and health has not originated from nursing research. With the explosion of
genetic information emerging from the Human Genome
Project6 and other genetic research, nurse scholars are
now beginning to contribute to the emerging body of
knowledge regarding the relationships between genetic
discoveries and human health.
Over the past 10 years the Institute of Medicine
(IOM) and the American Academy of Nursing (AAN)
have addressed the need for a well-prepared nursing
workforce to participate in future genetic health care
services. In 1994, the IOMs committee on assessing
genetic risks identified that genetic counseling and
education must be an integral part of genetic testing.7
The AANs 1997 monograph, Genetics Revolution:
Implications for Nursing, identified challenges in education, research, and practice that required development
of leadership among nurse scholars who are informed
about genetic health care issues and are prepared to
conduct research into the search for solutions to genetic
health care challenges.8 In 2002, the AAN issued a
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position statement, Integrating Genetics Competencies

into Baccalaureate and Advanced Nursing Education.9
This builds upon the recognition of the need for
research into relationships between genetic discoveries
and health by nursing scholars.
Several funding agencies, including The National
Institute of Nursing Research (NINR), support opportunities to integrate genetics into nursing research.10
Requests for applications have been issued in the
following areas: (1) Linking Nursing and Genetic Research for Individual Post-doctoral Awards and Senior
Fellowships (PA-97-039), and (2) Opportunities in
Genetics Nursing Research (PA-97-047). The NINR
Strategic Plan identifies that a critical imperative for
nursing research is to integrate new genetic findings
into health care delivery, and prepare the public to
understand and accept considerable alterations in the
way people live their lives and experience illness.11
When faced with new scholarly and clinical challenges, collaborative networks of nurse researchers
have proven valuable in the past. For example, in the
1970s, dialogue to stimulate research collaboration and
productivity resulted in the creation of regional nursing
research societies in the 1980s, the funding of the Nurse
Faculty Development in the Midwest Program, and
founding of 17 Research Interest Groups in 1979.12
In nursing science, research in genetics is at a
formative stage. This level of development is due in
part to the rapidity of recent developments in human
genetics. However, it also reflects the lack of coordinated or articulated research and training programs in
genetic nursing research, as well as an absence of a
critical mass of genetic nursing faculty at any single
institution. These circumstances make collaborative
research networks an important strategy for nursing to
maximize its contribution to clinical genetics and integration of genetics into all levels of health care.
Research collaboration can increase productivity, enhance mentoring opportunities for junior faculty, maximize use of scarce resources, and extend research
programs to broader and more diverse subject pools
through multi-site studies. Research collaboration that
extends beyond disciplinary boundaries also can lead to
development of more comprehensive organizing frameworks.13 In response to these needs, a State of the
Science conference, funded by the Ethical, Legal, and
Social Issues (ELSI) Research Program of the National
Human Genome Research Institute (NHGRI), National
Institutes of Health (NIH) was held to address issues in
integrating genetic knowledge into nursing science.

post-doctoral students, and 11 (29%) were clinical

genetic nurses or masters students. Although the original audience was anticipated to be from Midwestern
states, where nurse scholars with interest in genetic
topics may be geographically isolated from each other,
nurses from all regions of the country attended the
conference. Twelve speakers gave presentations on
current genetic health research and methodology topics.
Several papers14-17 from this conference describe priority issues in genetic nursing research.
One aim of the conference was to identify concerns
that genetic nurse researchers experience in developing
and sustaining a genetic nursing research program. A
focus group format was used to elicit common needs,
barriers, and suggested strategies to overcoming obstacles to conducting genetic nursing research. The results
of these focus groups formed the basis for a Delphi
survey to further clarify common barriers and potential
strategies for conducting genetic nursing research.

METHODS
A Delphi technique design was used to identify priority
concerns regarding the incorporation of genetics into
nurse scientists programs of research. This design was
used to measure the judgments of nurse researchers for
the purpose of assessing priorities.18 A list of 59
statements was developed from the concerns identified
by the focus groups at the conference. These statements
were grouped into three categories of Needs, Barriers,
and Strategies. Twenty-one statements were grouped in
the category of Needs, 12 statements in the category of
Barriers, and 26 statements in the category of Strategies. The surveys were sent to all conference participants with the instructions to rate the level of importance of each statement on a scale of 0 to 10, with 0
indicating lack of priority, and 10 indicating the highest
possible priority. Respondents were also asked to add
any topics that they believed were overlooked in the
small group discussions. Thirty-six surveys were sent
and 15 returned (42% return rate). Responses with a
rating between 8 and 10 that were endorsed by two
thirds of the respondents were retained. This cut off
resulted in 30 of the original 59 statements remaining.
Barriers and needs statements were collapsed into one
category; strategies remained as a separate category. All
conference participants received the second round of
questionnaires. In this questionnaire, participants were
asked to select the 10 most important statements and
rank them in descending order from 1 to 10. Ten
participants returned the second survey for a 28%
response rate.

GENETICS NURSING RESEARCH

CONSENSUS CONFERENCE

RESULTS AND DISCUSSION

In October 2000, a one and a half day state of the

science conference was held in Iowa City and was
attended by 36 participants from 13 states. Fifteen
(42%) were nursing faculty, 11 (29%) were doctoral or
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Those items that were ranked by 2 or fewer respondents

were deleted from the analysis. Seventeen of the 30
statements remained (Table 1). Clusters were identified
by the Principal Investigator and verified with a project
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Table 1. Priority rankings

Mean priority score
(1 highest priority)

Statements in decreasing rank order

1. Nurse researchers need to be able to translate genetic knowledge into
research and practice
2. A strategy to overcome barriers is mentoring
3. Nurse researchers need increased resources
3. Nurse researchers need institutional infrastructure
5. A strategy to overcome barriers is to build collaborations with nurse
researchers, clinicians, and other disciplines
6. Nurse researchers need to find collaborators for biologic aspects
7. Nurse researchers need to conduct interdisciplinary research
8. Nurse researchers need research funds
9. A strategy to overcome barriers is training grants for pre- and postdoctoral
students
9. Nurse researchers need measures that are appropriate and psychometrically
sound for the population and genetics research question
11. A strategy to overcome barriers is to identify persons for collaboration and/or
sharing of research populations
12. Nurse researchers need to make the connections between strengths of
nursing and genetics research
13. A strategy to overcome barriers is to build community partnerships
13. Nurse researchers need understanding about geographic and
ethnic/minority diversity
15. A strategy to overcome barriers is to increase training in biological
techniques
16. A strategy to overcome barriers is collaboration with organizations to
disseminate findings
17. A strategy to overcome barriers is to acquire industry and academic
collaboration

Investigator (Table 2). Statements clustered into 5

major domains: Genetic Knowledge, Resources, Methodology, Networking, and Diversity.

Genetic Knowledge
The statement receiving the highest priority reflected
the need of nurse scientists to understand and be able to
apply genetic concepts in the conceptualization and
implementation of their research. The other statement in
this category reflected the need for nurse scholars to
translate genetic discoveries into relevant research
questions reflecting human responses to health and
illness.
There are several categories of inquiry that integrate
genetic knowledge with nursing science. These include
health phenomena in persons with conditions that have
a genetic component,16 the impact of genetic factors on
health phenomena, responses by individuals and families to genetic information,16,19 and health services
research that explores relationships between genetic- or
genotype-driven nursing interventions.19 Nursing
scholars are beginning to generate studies in the first
three of these areas.
Study of health phenomena in persons with conditions that have a genetic component has traditionally

2.5
3.6
3.8
3.8
4.3
4.4
4.5
4.7
6
6
6.5
6.8
8
8
8.3
9
9.5

focused on descriptions of features in chromosomal or

single gene disorders. Nurse researchers investigated
phenomena such as coping,20 socialization development,21 and outcomes of interventions.22 A nurse researcher described end-of-life decision making in a
young adult who has a genetic condition.23 Explication
of health phenomena in persons with genetic conditions
may provide useful insights into subsequent inquiries
into implementation of interventions for these populations.
Inquiry into the impact of genetic factors on health
phenomena requires that nurse scientists understand
genetic concepts and the ways in which alterations in
gene structure and function, as well as interactions
between genetic and environmental factors, may influence health parameters in individuals, families, and
communities. The genetic basis of patient symptoms
and their responses are potential areas of investigations
for nursing and genetics research teams. Genetic factors
that influence pain perception are being investigated in
both animal and human studies.24 One team of researchers is investigating the potential influence of
genetic factors on pain perception in children undergoing painful procedures.25 Other potentially productive
areas of inquiry include investigations into the genetic
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Table 2. Statement domains

Mean priority score
(1 highest priority)
Genetic knowledge
1. Nurse researchers need to be able to translate genetic knowledge into
research and practice
12. Nurse researchers need to make the connections between strengths of
nursing and genetics research
Resources
2. A strategy to overcome barriers is mentoring
3. Nurse researchers need increased resources
3. Nurse researchers need institutional infrastructure
8. Nurse researchers need research funds
9. A strategy to overcome barriers is training grants for pre- and
postdoctoral students
Networking
5. A strategy to overcome barriers is to build collaborations with nurse
researchers, clinicians, and other disciplines
6. Nurse researchers need to find collaborators for biologic aspects
7. Nurse researchers need to conduct interdisciplinary research
11. A strategy to overcome barriers is to identify persons for collaboration
and/or sharing of research populations
13. A strategy to overcome barriers is to build community partnerships
16. A strategy to overcome barriers is collaboration with organizations to
disseminate findings
17. A strategy to overcome barriers is to acquire industry and academic
collaboration
Methodology
9. Nurse researchers need measures that are appropriate and
psychometrically sound for the population and genetics research
question
15. A strategy to overcome barriers is to increase training in biological
techniques
Diversity
13. Nurse researchers need understanding about geographic and ethnic/
minority diversity

basis for obesity,26-29 cardiovascular risk factors,30,31

transplanted organ rejection,32 memory loss in humans,33 and genetic aspects of memory performance in
animals.34
Teams of researchers have investigated responses to
genetic information with persons who participate in
predictive or susceptibility genetic testing. Studies of
persons who undergo testing for Huntington Disease35,36 or for familial cancers37,38 provided descriptive findings regarding knowledge, emotional responses, coping, communication among family
members, and decision-making. Prior to predictive
testing, nurse researchers conducted inquiries into responses to information from prenatal testing. Less is
known regarding the integration of other genetic information into clinical practice, especially with regard to
cultural or socio-economic factors that may influence
the response to this information.
Genetic factors are being identified that may affect
the outcomes of treatments. Understanding genetic
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2.5
6.8

3.6
3.8
3.8
4.7
6

4.3
4.4
4.5
6.5
8
9
9.5

8.3

factors that may predict which persons are more likely

to benefit, or be less likely to be successful, when
completing standard smoking-cessation39,40 is one potential area for research. Little is known regarding
relationships among genetic factors and outcomes of
nursing interventions. In the future, as genetic aspects
of symptoms are identified, programs of nursing research that investigate interventions aimed to modify or
prevent symptoms may include genetic factors as mediating variables.

Resources
While resources are a necessary component of all
successful research programs, the participants in this
conference specified mentoring and training as two
specific needs. Mentoring was needed by those who
were experienced researchers venturing into the new
area of genetics in their research programs, as well as
for nurse scholars who are prepared with appropriate
education in the nursing and genetic sciences but are
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novice researchers. One strategy to address this need

was the development of the Genetic Research Section at
the Midwest Nursing Research Society. Formed in
2001, this research section aims to facilitate awareness
of the specific content and methodologic skills among
members of the section. Participants from the Consensus conference formed the core membership of this
research section that has co-sponsored a preconference
workshop on genetics and diabetes, and a research
symposium.
Several programs to provide genetic education for
nurses have been successfully implemented. Training
for nursing faculty has been ongoing since 1997
through the Genetics Program for Nursing Faculty.41
Originally sponsored by the ELSI Research Program,
this workshop provides concentrated study of genetic
topics that are directly related to nursing education and
practice. The Genetics Interdisciplinary Faculty Training program (GIFT) at Duke University provides genetic education to faculty teams.42 As genetic content
becomes integrated into nursing education, nurse clinicians, educators, and more scholars will become prepared to evaluate and investigate critical questions
affecting health and the impact of nursing care on
genetic health.
Training for nurse scholars is provided through the
NINR Summer Genetics Institute. Over 40 nurse scientists and advanced practice nurses have completed this
eight-week program that is focused on linking molecular genetic discoveries to clinical health care.43 An
institutional postdoctoral training fellowship in clinical
genetic nursing research was awarded to The University
of Iowa in 2001-2006.44 Fellows in this program
complete two years of study and mentored research
training with nurse and genetic scientists in a focused
area of inquiry.

Networking
Finding collaborators who can provide necessary information or support is an important component of genetic
nursing scholarship. For genetic nursing researchers, it
is essential to have access to nurse experts as well as
those in related disciplines. Nursing scholars and clinical experts with expertise in genetics may be more
easily located as genetics interest groups are formed in
professional nursing societies. Organizations such as
the International Society of Nurses in Genetics, Inc.
(ISONG), the Genetics Research Section of the Midwest Nursing Research Society (MNRS), the Genetics
Special Interest Group of the Oncology Nursing Society
(ONS), and the Genetics Expert Panel of the AAN, are
resources where nurse scholars may locate colleagues
with whom to collaborate on research projects. Much
work in the application of gene discovery in clinical
practice is interdisciplinary. The National Coalition for
Health Professional Education in Genetics (NCHPEG)45 is another resource where nurses may interact

Williams et al.

with health professionals with an interest in clinical

genetics from related disciplines.

Research Methodology
Integration of genetic concepts into nursing research
will require careful scrutiny of existing measures to
determine their appropriateness and to determine if they
have sufficient sensitivity.46 Traditional research designs and existing measures may not yield answers to
research questions that will be posed by nurses regarding genetic aspects of health. Nurse researchers can
provide insights into the use of research methods such
as qualitative approaches to investigation of research
questions in which quantitative methods are not entirely
satisfactory. Nurse scholars will need to understand
molecular genetic methods when research questions
require recognition of genetic factors that influence
health outcomes. Nurses have a tradition of considering
family as well as individual responses to illness,47 and
acquiring skills in assessment of families and communities will be critical when nurse researchers move
beyond the individual as the unit of analysis in genetic
research. This foundation may be critical in developing
appropriate research designs to answer questions about
the impact of genetic information, or outcomes of
nursing interventions.
Diversity
Respondents indicated that awareness of the influence
of ethnicity and culture is another area of need for nurse
researchers. Much of the research literature on integration of genetic discoveries is limited to studies that have
little ethnic or socio-economic diversity. Many studies
are conducted with populations of persons from highrisk families, persons who are not from low socioeconomic groups, and some studies are conducted in
research rather than clinical settings. Thus, the knowledge base emerging from clinical application of genetic
discoveries has not yet reflected views of the full range
of people who may or may not benefit from new genetic
discoveries. The program goals of the ELSI Research
Program48 of the National Human Genome Research
Institute (NHGRI) include topics of concern to nursing
researchers. One of these goals is to explore how ethnic
and socioeconomic factors affect the use, understanding, and interpretation of genetic information, the use of
genetic services, and the development of policy.

SUMMARY
Nurse scholars possess the ability to conduct inquiries
into relationships among genetic factors and health.
Expanding genetic knowledge and research skills, intraand interdisciplinary collaboration, and development of
research resources will accelerate the pace at which
nurse scholars will contribute to the body of knowledge
on genetics and health.
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This project was made possible by funding from the Ethical, Legal,
and Social Issues Research Program of the National Human Genome
Research Institute, National Institutes of Health (Grant R13
HG02227-01).

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