Focus on Genomics
Editor’s Note: In this issue a new feature—Focus—begins. The inaugural series of articles to be published over a 2-year period is “Genomics for
Health.” Jean Jenkins, RN, PhD, FAAN, is the series editor. In this introductory article, Dr. Jenkins and colleagues describe the series and its
importance for nurses globally.
Nurses and the Genomic Revolution
Jean Jenkins, Patricia A. Grady, Francis S. Collins
Purpose: To increase nurses’ genetics and genomics literacy through a series of articles fo-
policy, and research.
Organizing Framework: “Genomics for Health” is one of three themes, along with genomes
to biology and genomes to society, emanating from applications of the Human Genome
Methods: In this series of articles, nurse scientists who are experts in genetics and genomics
sciences explain terminology, provide background information about the HGP, discuss
clinical examples, and recommend changes in nursing practice, education, and research.
Conclusions: The HGP has already led to major changes in clinical practice, research, edu-
cation, and policy, and even more dramatic changes are predicted for people throughout
the world. Mastering this information is necessary for nurses globally because genomic
information will ultimately pervade all of health care.
JOURNAL OF NURSING SCHOLARSHIP, 2005; 37:2, 98-101. C ?2005 SIGMA THETA TAU INTERNATIONAL.
[Key words: nursing, genetics, trends, genomics]
and medicine internationally has been undergoing major
change. The leading edge of genomic healthcare is al-
ready evident in patient care (Feetham & Williams, 2004;
Guttmacher & Collins, 2002), with even more dramatic
changes anticipated. The full potential will be gradually re-
alized as knowledge continues to increase about the human
genome, the physiologic consequences of genetic variations,
and outcomes of gene interactions with the environment
(Varmus, 2002). The applications of genomic discoveries in
clinical care are expanding diagnosis, treatment, and pre-
vention at an accelerating pace, and that knowledge will
continue to improve the health of people throughout the
Nurses are pivotal in using information about the func-
tion, structure, and interactions of all the genes in the
human body (i.e., genomics) with the goal of improved
outcomes for everyone. This focus on health, rather than
merely on disease, is creating important and profound
changes in nursing education, practice, policy, and re-
search. The vision of researchers and clinicians in genomic
healthcare contains three themes: genomes to biology, ge-
nomes to health, and genomes to society. These themes
constitute a framework for understanding how genomics
ince completion of the Human Genome Project
in 2003 and subsequent ongoing efforts glob-
ally in genomic research, the practice of nursing
will effect continued changes in healthcare (Collins, Green,
Guttmacher, & Guyer, 2003; Guttmacher, Collins, &
Over the next 2 years, a series of articles will be published
in JNS about genomic research discoveries and their impor-
tance in nursing education, practice, policy, and research.
The idea for this series, Genomics for Health, came from
nurses who are leaders in genetics, because of their recog-
nition of the significance of genetics and genomics research
to nurses, as well as recognition of the important work al-
ready being done by nurses. These leaders, representing a
collaborative effort across two U.S. federal agencies (Na-
tional Institutes of Health and the Health Resources and
Services Administration) agreed that this work should be
brought together and disseminated to inform nurses glob-
ally. Authors of the series of articles are scholars and leaders
in nursing and genetics or genomics, with diverse education,
Jean Jenkins, RN, PhD, FAAN, Kappa, Senior Clinical Advisor; Francis S.
Collins, MD, PhD, Director; all at National Human Genome Research In-
stitute; Patricia A. Grady, RN, PhD, FAAN, Tau, Director, National Institute
of Nursing Research, National Institutes of Health, Bethesda, MD. Corre-
spondence to Dr. Jenkins, National Human Genome Research Institute,
National Institutes of Health, 31 Center Drive, Building 31, Room 4B09,
Bethesda, MD 20892. E-mail: firstname.lastname@example.org
Accepted for publication September 30, 2004.
98Second Quarter 2005
Journal of Nursing Scholarship
Focus: Genomics for Health
experience, and cultural perspectives. Topics covered in the
series will pertain to (a) areas that are influenced by genomic
discoveries (e.g., emerging technologies, ethical issues, edu-
cation; informatics); (b) all specialties (e.g., oncology, car-
diovascular, psychiatric); and (c) the entire life continuum
(e.g., preconception and prenatal, chronic dementing condi-
tions). These articles will be designed to provide answers to
questions of readers, to explain terminology, and to improve
nurses’ genetic literacy.
Mastering this information is necessary for all health care
professionals to make the conceptual shift as genetic and
genomic information ultimately pervades all health care.
Key concepts, an introduction to terminology, a glossary of
terms, and examples of why genomics is relevant for nurses
now are introduced in this issue (see Table). We encourage
will show how nurses are an essential part of this important
effort to apply genomics to health.
The following cases illustrate how genomic information
is increasingly permeating clinical, educational, and nurs-
ing research activities. We invite readers to reflect on their
and societal implications in this new era of healthcare.
Jan was recently diagnosed with non-Hodgkins lym-
phoma. She read about the use of a Lymphochip using mi-
croarray technology to provide a more sensitive molecular
classification of lymphoid malignancies (Staudt, 2002; Dave
et al., 2004). These studies showed that molecular markers
such as gene expression and chromosomal rearrangements
might identify people needing more aggressive cancer treat-
ment, and might even indicate the possibility of targeted
therapy (Kipps, 2002). This information is especially impor-
tant to Jan because selection of her treatment is imminent.
can give informed consent for the interventions. For exam-
ple, nurses need to know enough to be able to describe the
Lymphochip test process and results to Jan. On the basis of
the test results, can you describe for her the rationale for the
proposed targeted drug therapy, expected side effects, and
long-term risks? Does Jan need to know about any issues of
privacy or confidentiality related to this treatment?
Todd is an undergraduate nursing student. He is working
in a cardiovascular clinic and caring for a woman (BL) who
at the age of 42 is recovering from a heart attack. BL reports
that she is watching her diet, taking recommended medica-
tions, and exercising three times a week. BL brought with
her a listing of family history information to discuss with
the nurse practitioner (NP). She used a family history por-
trait tool available online to guide collection of information
from her family about incidences of diseases in her family
(http://www.hhs.gov/familyhistory). BL is concerned about
a possible hereditary component to her health problems. She
tells the NP and Todd that several family members have hy-
percholesterolemia and that several have died at young ages
from heart attacks. Todd asks his faculty supervisor about
the genetic factors related to health risks and interventions
available to BL and her family.
As the educator in Todd’s program, do you know what
information and resources will assist Todd in interpreting
family history, offering testing, and designing care options
for BL (Cheek & Cesan, 2003)? Has your curriculum com-
mittee begun to integrate genomic concepts into all nursing
You are a nurse scholar interested in designing a pro-
gram of research to integrate genomic principles into nurs-
ing studies (Williams, Tripp-Reimer, Schutte, & Barnette,
2004). Many opportunities for research are available to fo-
cus on the relationships among genetic factors and health
outcomes. For instance, what is the best approach to
prepare people to make decisions about genetic testing
(Calzone et al., in press)? How can emerging technologies,
tions in clinical settings (Cashion, Driscoll, & Sabek, 2004)?
Is a biobehavioral research model appropriate as a guide
for inclusion of new genetics knowledge in nursing studies
Nurses can assume a wide range of responsibilities in ad-
vancing genetics and genomics from basic research to clin-
ical application. Because of the importance of nurses in ge-
nomic healthcare, an effort is in process to identify the min-
imal nursing competencies related to genetic and genomic
knowledge. A document to guide curriculum content and
evaluation of nurse competency is under review with the
goal of facilitating integration of genetics and genomics into
curricula, the NCLEX exam, accreditation, and certifica-
tion processes. Genomics is a principle-based science that
can be integrated into curricula and practice. Nurses in the
United Kingdom have recently completed this process and
have published a document to be used as a framework for
genetics education of nurses (Kirk et al., 2003).
Nurses can assimilate and integrate this burgeoning ge-
netic and genomic science in concert with interdisciplinary
colleagues. Genetics and genomics literacy for all nurses
is important (Guttmacher, Jenkins, & Uhlmann, 2001) be-
cause sufficient specialists will not be available to respond
to all questions about genetics and genomics. Patients and
families expect healthcare providers to have this knowl-
edge. Primary care providers will often be the point of con-
tact for the questions and concerns of patients and their
families. Nurses, with a long tradition of being educa-
tors, and with sensitivity to emotional and psychological
issues and advocacy, are ideally suited to address the emerg-
ing needs of patients, families, and communities. Through
education, research, and clinical applications, nurses can
Journal of Nursing Scholarship Second Quarter 2005
Focus: Genomics for Health
Table. Glossary of Terms Related to Genomics
Allele. One of the variant forms of a gene at a particular locus, or location, on a chromosome. Different alleles produce variation in inherited characteristics such as hair
color or blood type. In an individual, one form of the allele (the dominant one) may be expressed more than another form (the recessive one).
Autosome. Any chromosome other than a sex chromosome. Humans have 22 pairs of autosomes.
Base pair. Two bases which form a “rung of the DNA ladder.” A DNA nucleotide is made of a molecule of sugar, a molecule of phosphoric acid, and a molecule called a
base. The bases are the “letters” that spell out the genetic code. In DNA, the code letters are A, T, G, and C, which stand for the chemicals adenine, thymine, guanine,
and cytosine, respectively. In base pairing, adenine always pairs with thymine, and guanine always pairs with cytosine.
Carrier. An individual who possesses one copy of a mutant allele that causes disease only when two copies are present. Although carriers do not have the disease, two
carriers can produce a child who has the disease.
Chromosome. One of the threadlike “packages” of genes and other DNA in the nucleus of a cell. Different kinds of organisms have different numbers of chromosomes.
Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes. Each parent contributes one chromosome to each pair, so children get
half of their chromosomes from their mothers and half from their fathers.
Codon. Three bases in a DNA or RNA sequence which specify a single amino acid.
Deletion. A particular kind of mutation: loss of a piece of DNA from a chromosome. Deletion of a gene or part of a gene can lead to a disease or abnormality.
DNA. Deoxyribonucleic acid, the chemical inside the nucleus of a cell that carries the genetic instructions for making living organisms.
DNA sequencing. Determining the exact order of the base pairs in a segment of DNA.
Epigenetic. Nonmutational phenomena, such as methylation or histone modification, that may modify the expression of a gene.
Exon. The region of a gene that contains the code for producing the gene’s protein. Each exon codes for a specific portion of the complete protein. In some species
(including humans), a gene’s exons are separated by long regions of DNA (called introns or sometimes “junk DNA”) that have no apparent function.
Gene. The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a
Genetic. Inherited; having to do with information that is passed from parents to offspring through genes in sperm and egg cells.
Gene mapping. Determining the relative positions of genes on a chromosome and the distance between them.
Genetic screening. Testing a population group to identify a subset of individuals at high risk for having or transmitting a specific genetic disorder.
Genetic susceptibility. An inherited increase in the risk of developing a disease.
Genetic testing. Analyzing DNA to look for a genetic alteration that might indicate an increased risk for developing a specific disease or disorder.
Genome. All the DNA contained in an organism, which includes both the chromosomes within the nucleus and the DNA in mitochondria.
Genomics. Study of the functions and interactions of all the genes in the genome, including their interactions with environmental factors.
Genotype. The genetic identity of an individual that does not show as outward characteristics.
Haplotype. A group of nearby alleles that are inherited together.
Heterozygous. Possessing two different forms of a particular gene, one inherited from each parent.
Homozygous. Possessing two identical forms of a particular gene, one inherited from each parent.
Human Genome Project. An international research project to map each human gene and to completely sequence human DNA.
Inherited. Transmitted through genes from parents to offspring.
Intron. A noncoding sequence of DNA that is initially copied into RNA but is cut out of the final RNA transcript.
Karyotype. The chromosomal complement of an individual, including the number of chromosomes and any abnormalities. The term is also used to refer to a photograph
of an individual’s chromosomes.
Linkage. The association of genes and markers that lie near each other on a chromosome. Linked genes and markers tend to be inherited together.
Mendelian inheritance. Manner in which genes and traits are passed from parents to children. Examples of Mendelian inheritance include autosomal dominant,
autosomal recessive, and sex-linked genes.
Microarray technology. A new way of studying how large numbers of genes interact with each other and how a cell’s regulatory networks control vast batteries of genes
simultaneously. The method requires use of a robot to precisely apply tiny droplets containing functional DNA to glass slides. Researchers then attach fluorescent
labels to DNA from the cell they are studying. The labeled probes are allowed to bind to complementary DNA strands on the slides. The slides are put into a scanning
microscope that can measure the brightness of each fluorescent dot; brightness reveals how much of a specific DNA fragment is present, an indicator of how active it is.
Multifactorial. Caused by the interaction of multiple genetic and environmental factors.
Mutation. A permanent structural alteration in DNA. In most cases, DNA changes either have no effect or cause harm, but occasionally a mutation can improve an
organism’s chances of surviving and passing the beneficial change on to its descendants.
Pedigree. A simplified diagram of a family’s genealogy that shows family members’ relationships to each other and how a particular trait or disease has been inherited.
Penetrance. The likelihood that a person carrying a particular mutant gene will have an altered phenotype.
Pharmacogenomic. Generally refers to the inherited variability in drug metabolism and disposition; allows for optimal choice and dose of drugs.
Phenotype. The observable traits or characteristics of an organism, for example, hair color, weight, or the presence or absence of a disease. Phenotypic traits are not
Polymorphism. A common variation in the sequence of DNA among individuals.
100 Second Quarter 2005
Journal of Nursing Scholarship
Focus: Genomics for Health
Selection bias. An error in choosing the individuals or groups to participate in a study. Ideally, participants in a study should be very similar to one another and to the
larger population from which they are drawn (for example, all people with the same disease or condition). If they have important differences, the results of the study
might not be valid.
Single nucleotide polymorphism (SNP). Common but minute variations that occur in human DNA at a frequency of one every 1,000 bases. These variations can be used
to track inheritance in families. SNP is pronounced “snip.”
Variation. Most of any one person’s DNA, about 99.9 percent, is exactly the same as any other person’s DNA. (Identical twins are the exception, with 100 percent
similarity). Differences in the sequence of DNA among individuals are called genetic variation.
Sources and additional information:
Guttmacher, Collins, & Drazen, 2004.
accelerate the pace of integrating genomics into options for
care, thereby contributing significantly to reshaping and op-
timizing health care.
stedt, D., et al. (in press). A randomized comparison of group versus
individual genetic education and counseling for familial breast and/or
ovarian cancer. Journal of Clinical Oncology.
Cashion, A., Driscoll, C., & Sabek, O. (2004). Emerging genetic biotech-
nologies in clinical and research settings. Biological Research for Nurs-
ing, 5(3), 159-167.
Cheek, D., & Cesan, A. (2003). Genetic predictors of cardiovascular dis-
Collins, F.S., Green, E., Guttmacher, A.E., & Guyer, M.S. (2003). A vision
for the future of genomic research. Nature, 422, 835-847.
Dave, S., Wright, G., Tan, B., Rosenwald, A., Gascoyne, R., Chan, W.,
et al. (2004). Prediction of survival in follicular lymphoma based on
molecular features of tumor-infiltrating immune cells. New England
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Feetham, S.L., & Williams, J.K. (Eds.). (2004). Nursing and genetics in
the 21st century—Leadership for global health. Geneva, Switzerland:
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Kirk, M., McDonald, K., Anstey, S., & Longley, M. (2003). Fit for practice
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Journal of Nursing ScholarshipSecond Quarter 2005