This material is protected by U.S. copyright law. Unauthorized reproduction is prohibited. To purchase reprints or request
permission to reproduce, e-mail reprints@ons.org.
Why Should Oncology Nurses Be
Interested in Genetics?
Jean Jenkins, PhD, RN, FAAN, and Agnes Masny, RN, MPH, MSN, CRNP
professionals can incorporate
he  Human  Genome
This chapter excerpt from the book Genetics in Oncology   genetics principles into all as-
Project began in 1990 as
Practice: Cancer Risk Assessment, edited by Amy   pects of patient care.
an international effort to
The field of cancer prevention
characterize human genetic in-
Strauss Tranin, ARNP, MS, AOCN, Agnes Masny, RN,
is already focusing on the inter-
structions (the human genome)
MPH, MSN, CRNP, and Jean Jenkins, PhD, RN, FAAN, is   action of genes and environmen-
by creating a genetic map that
the first in a new series of clinically relevant reprints that   tal factors. Genetic profiles
reflects the position of genes on
will appear periodically in the Clinical Journal of Oncol-   (such as blood type and human
chromosomes. Scientists have
leukocyte antigen, or HLA,
completed a draft map of the
ogy Nursing.
type) help to identify the indi-
human genome (International
viduals most susceptible to car-
Human Genome Sequencing
Consortium, 2001; Venter et al., 2001). Over  genic pathway involves five steps: initia-  cinogens. Genetic profiles are not profiles
the next decade, work will continue with  tion, promotion, progression, invasion, and  of mutations but of simple variations in ge-
computer technology to further identify  metastasis. The identification of the genes  netic makeup. These variations, known as
genes associated with disease and the poten-  related to each step in the pathway will have  polymorphisms, often influence specific en-
tial for interventions in risk reduction or tar-  a dramatic impact on oncology interven-  zyme activity. For example, carcinogens
tions. Thus, the increasing understanding of  present in tobacco are modified or detoxi-
geted therapeutics.
In response to these advances, the Na-  the genetic basis of cancer and the effect  fied by enzymes in the cytochrome P450
tional Cancer Institute (1998) established the  that understanding will have on treatment  (CYP) family. Some individuals, by virtue
Genome Anatomy Project to identify all the  modalities will sweep oncology nursing  of their genetic makeup, have a variation in
genes responsible for cancer development  into a new healthcare paradigm (Engelking,  one of the CYP genes and are unable to pro-
and malignant transformation. In the field  1997).
duce an enzyme capable of carcinogen
detoxification. These individuals, both
of oncology, this project signals a dramatic
smokers and nonsmokers, are at higher-
shift in the way that patients will be screened,
The Impact
than-average risk for lung cancer (Bennett
diagnosed, and treated. Oncology nurses
of Advancements
et al., 1999).
will be required to know about genetics to
Oncology nurses working in the areas of
understand the basic etiology of cancer.
in Genetics on the
prevention and risk reduction will routinely
The most simplistic definition of cancer
Oncology Nurse's Role
make use of genetic information to
is uncontrolled cell growth. People famil-
Identify high-risk populations through ge-
iar with the discoveries of the Human Ge-
netic testing or genetic profiles.
nome Project now understand that cancer
Advances in genetics will influence ev-
is clearly a genetic disease. Genes are units  ery aspect of the cancer continuum, from   Educate a high-risk individual about the
effects of exposures based on the indivi-
of deoxyribonucleic acid (DNA). The genes  prevention and screening to treatments and
dual's genetic makeup.
code for normal proteins, which regulate  palliation. Oncology nurses, because of their
cell growth. Damage (mutation) frequently  holistic approach to patient care, have the   Recommend risk-reduction strategies that
include lifestyle and behavior changes.
occurs during normal cell division or as a  opportunity to incorporate these advances
result of environmental influences. When  into their role at each point along the can-
genetic damage escapes the normal repair  cer-care continuum. They can integrate ge-
mechanisms of the body, the mutations ac-  netics concepts into counseling, education,
From Genetics in Oncology Practice: Cancer
cumulate, resulting in uncontrolled cell  preparation of clients for decision making,
Risk Assessment (pp. 112) by A.S. Tranin,
growth. Most cancers occur because of  and direct caregiving. Figure 1 shows the
A. Masny, and J. Jenkins (Eds.), 2003, Pitts-
multiple mutations involving several genes  carcinogenic pathway and corresponding
burgh, PA: Oncology Nursing Society. Re-
at each step in the carcinogenic pathway.  genetic events and nursing actions. The fig-
printed with permission.
Oncology nurses know that the carcino-  ure suggests ways that oncology healthcare
Digital Object Identifier: 10.1188/03.CJON.576-580
Failure of repair
Future genetic
Accumulation of
More mutations
mutations that
that allow distant
damage DNA
increase growth
Drug choices
Identification of
Chemoprevention with
Recognition of
Evaluation of
based on
gene product replacement
evaluation of
high-risk individuals
tumor genetic
or drugs to enhance
through genetic
and tumor
carcinogen detoxification
margins and
testing and profiles
Prevention and screening
Note. Based on information from Peters, Dimond, & Jenkins, 1997.
lins, 1997). For example, the identification
Which genetic features, such as the ab-
Counsel individuals about the benefits
of bacteria was a diagnostic discovery that
sence or presence of a gene product or ge-
and limitations of genetic testing.
was well in advance of antibiotic therapies.
netic changes noted histologically (Quirke
Advise individuals about the psychoso-
In the same manner, genetic testing is the
& Mapstone, 1999), help to identify early
cial ramifications of genetic information.
diagnostic precedent to major changes in
Some oncology nurses are specializing in
oncology practice. Figure 2 shows the steps
Molecular staging, which predicts which
cancer genetic-risk counseling. The technol-
from the identification of genes involved in
patients are at high risk for disease spread
ogy to identify mutations in cancer-predis-
disease to the development of therapies.
(For example, molecular staging can help
position genes is clinically available for a
Note the time gap between the detection of
to identify genetic lesions in surgical mar-
variety of familial cancer syndromes, such
contributing genes and the emergence of
gins--lesions that are not yet malignant
as familial adenomatous polyposis (caused
new treatment modalities. In the field of can-
but are indicative of residual disease
by an APC gene mutation), hereditary breast
cer genetics, computer and DNA technology
[Brennan et al., 1995].)
and ovarian cancer (BRCA1 or BRCA2), he-
are expected to make this gap a short one.
How genetic markers in peripheral blood
reditary nonpolyposis colon cancer syn-
Therefore, the window of opportunity for
or body fluids are predictive of disease
drome (MLH1, MSH2), and multiple endo-
oncology nurses to incorporate genetic in-
spread or relapse (Kodera et al., 1998)
crine neoplasia 2a and 2b (RET). Oncology
formation into their roles as educators, coun-
How genetic characteristics of the tumor
nurses working in cancer genetic-risk as-
selors, and primary caregivers is now.
can predict the patient's response to che-
sessment and counseling
Educate individuals about the genes that
Innovative therapies will use replacement
predispose them to cancer.
Genetic Health Care and
genes or gene products to treat cancer. Tu-
Provide in-depth cancer-risk assessment
Oncology Nursing
mor cells will be genetically modified to
by evaluating family histories and statis-
make them more susceptible to conventional
tical risk estimates.
therapies. Oncology nurses will have to un-
Guide individuals in decision making
Genetic health care is care for people
derstand the genetics behind these soon-to-
relative to genetic testing.
whose health, wellness, or disease is caused
be commonplace practices.
Prepare individuals and families for the
or influenced by genes. Healthcare services
Public interest is high regarding the use
potential impact of genetic information.
must integrate genetic health care into the
of genetic information to predict cancer sus-
Address ethical concerns related to ge-
continuum of cancer care.
ceptibility (Lerman, Daly, Masny, & Bal-
netic information.
Discoveries about how genes direct the
shem, 1994; Smith & Croyle, 1995). The
Advise individuals about the benefits and
construction and operation of the human
promise of better cancer prevention and
limitations of risk-reduction measures,
body are showing how genetic changes in-
treatment has created consumer demand for
such as chemoprevention, prophylactic
fluence disease susceptibility and develop-
genetic information and genetic services. As
surgery, and lifestyle changes.
ment. These discoveries offer opportunities
a result of this demand, oncology nurses
Nurses involved in the clinical arena are al-
for improvements in the care of individuals
have been involved in genetic predisposition
ready using the terminology of genetics when
with cancer through the integration of ge-
testing--that is, identifying and counseling
they explain the diagnostic and prognostic
netic concepts into all healthcare visits.
carriers of an inherited mutation (Calzone,
features of cancer cells. As genetics contin-
Using genetics technology in the clini-
1997; Giarelli, 1997). Diagnostics have al-
ues to advance, the accuracy of diagnosis and
cal setting creates challenges for both health-
ways preceded therapeutics in every major
prediction of treatment response will increase.
care providers and consumers. The inter-
paradigm shift in healthcare practice (Col-
Nurses will need to understand and explain
est, the technology, and now the expanding
cause of the unique nature of genetic infor-
mation, healthcare professionals must en-
sure informed consent before incorporating
genetic information into general healthcare
and nursing practices.
How Will Genetic
Information Be
Incorporated Into General
Health Care?
The discovery of the contributions genet-
ics makes to health and illness will affect
the care of all clients (both adults and chil-
dren) at all clinical settings and across all
practice specialties.
In terms of cancer care, nurses can present
information about genetics to clients during
the initial assessment; during discussions of
Note. From "Clinical Applications of Genetic Technologies to Cancer Care," by J. Peters, E. Dimond,
and J. Jenkins, 1997, Cancer Nursing, 20, p. 365. Copyright 1997 by Lippincott Williams and Wilkins.
early detection, cancer prevention, diagnos-
Reprinted with permission.
tics, medical surveillance, and the causes of
different types of cancer; and when planning
risk reduction, predicting prognosis, design-
knowledge of predisposing genes lead to
ing treatment options, and monitoring dis-
applicability to all individuals with cancer
pressure from a healthcare provider or third-
ease response.
provides opportunities for nurses to design
party payor to modify lifestyle and screen-
new genetic health services that enhance
ing practices? Will knowledge of genetic
outcomes for individuals and families. The
What Role Will Nurses
markers that family members share disrupt
opportunities also include different and dif-
Play in Meeting
or strengthen family relationships? A better
ficult choices that accompany genetic infor-
understanding of how individual uniqueness
the Genetic Healthcare
affects familial factors would help to answer
Needs of the Future?
these questions.
How Is Genetic
Although a person's genetic makeup is
Information Different?
permanent, whether his or her makeup will
With some augmentation of the education
result in undesirable consequences is uncer-
they already have, nurses will be able to pro-
tain (Lerman, 1997). This uncertainty affects
vide the counseling and teaching that recent
Soon it will be possible to determine a
personal decision making, which also is in-
genetic discoveries necessitate. Nurses must
person's individual genetic profile and his
fluenced by prior perception of risk, values,
plan proactively to build on that foundation
or her risk of specific disease. Information
attitudes, and cultural beliefs. Identifying
by enabling personal skill development and
about a person's genetic makeup is very per-
people who have a predisposition to devel-
ensuring that they continually update their
sonal and reflects a permanent part of that
oping an illness may lead asymptomatic
knowledge of genetics by learning about
individual. At the same time, every indi-
people to question their own concept of be-
ongoing scientific discoveries that affect cli-
vidual's genetic information has a familial
ing healthy.
ent care. Translating science into practical
component in the sense that genes convey
Genetic information often provokes emo-
terms has always been a nursing priority. In
traits, including cancer risk, from generation
tional and behavioral responses. It could af-
the fast-changing field of genetics, nurses
to generation. A patient's blood relative may
fect insurance coverage and employability
will again find ways to apply exciting scien-
carry the same genetic information the pa-
and cause discrimination.
tific discoveries to the care of individual cli-
tient carries.
To summarize, genetic information is dif-
ents. This text will provide examples of re-
The fact that genetic information pertains
ferent from other health-related information
sponsibilities to consider in the design of a
to an individual and to his or her family
because it could reflect family members'
personal plan to meet these challenges.
raises issues regarding individual versus
risks, it does not reflect certainty about
Nurses have an opportunity to provide
family rights to confidentiality and the right
whether risk will lead to disease, it provokes
leadership in the design of genetic health-
of each person to know versus the right not
unusually emotional responses that affect
care services that offer safe and ethical ap-
to know about genetic factors. Ethicists have
behavior, and it has a very high potential to
plications of genetic technology. Nursing's
debated whether individuals in a family have
affect insurance coverage and employabil-
role will be important in the assessment,
the right to be informed about genetic fac-
ity and expose the client to discrimination.
planning, implementation, and evaluation of
tors that could affect their well-being and
Because of these unique features, healthcare
cancer-genetics health services.
choices (Parker, 1995; Van Leeuwen & Her-
professionals must handle genetic informa-
For oncology nurses, the integration of
togh, 1992). For example, should healthcare
tion with greater consideration than is ap-
cancer genetics into oncology care presents
providers share information about misin-
plied when handling other health-related
countless opportunities for personal and pro-
formed paternity? Do family members have
data, such as blood counts. In addition, be-
fessional growth. With these opportunities
the right not to know about cancer risk? Will
Quiz: How Frequently Do
To see how much knowledge you have to
comes the obligation to ensure that genetic
explain genetics information, count the
information and technology enhance cancer
You Use or Provide
number of times you answered "yes" to
care. Another obligation is to consider the
Genetic Information?
questions labeled b.
ethical, social, and legal implications of ge-
netics knowledge along with the medical
0 3: Like most nurses, you have a basic un-
Mark a check on the line that appears be-
application of cancer genetics technology.
derstanding of genetics but are willing
fore "Yes," "No," or "Not sure" to answer
A brochure published by the American
to incorporate new information into
the questions that follow.
Nurses Association (ANA), Managing Ge-
netic Information: Implications for Nursing
1a. Have you ever told individuals to use
4 6: You already have a foundation of
Practice (Scanlon & Fibison, 1995) may help
knowledge about genetics upon which
nurses to integrate ethical principles into nurs-
____Yes ____No
you can build.
ing guidelines regarding genetic information.
b. Do you know the genetic basis of this
Patient advocacy, nursing research, and
legislative efforts offer additional opportu-
Quiz Answers
____Yes ____No
nities to influence healthcare policy in re-
2a. Has a patient ever told you about other
gard to applying genetics to clinical care.
1. The recommendation for sunscreen has
family members with cancer?
Understanding the implications of genetic
a basis in genetics. Researchers believe
____Yes ____No
information for the individual, family, and
the pathophysiology of cancer is related
b. Do you understand the genetic basis
society will enhance the ability of nurses to
to the interaction of genes and the envi-
of their concern?
influence decisions that affect practice, edu-
ronment. Multiple exposures to ultravio-
____Yes ____Not sure
cation, and the quality of cancer care. The
let light cause genetic mutations that can
Oncology Nursing Society (ONS) has
lead to skin cancer.
3a. Have you ever explained to a patient
made the commitment to prepare its mem-
2. When patients tell you about family
how tumor markers function in a
bers to meet the challenges created by the
members with cancer, they may be con-
workup or cancer follow-up?
Genetics Revolution (ONS, 1997). The
cerned about the impact of family his-
____Yes ____No
publication of this text is one ONS-spon-
tory on the potential for disease in them-
b. Is it true that some tumor markers are
sored initiative designed to help to prepare
selves or a family member. The media
genes expressed by tumors?
nurses to incorporate genetics into practice.
have focused attention on the potential
____Yes ____Not sure
This text will define the education that
hereditary aspect of some cancers. From
nurses will need to accomplish this task. It
4a. Have you ever seen the term aneu-
5%10% of all cancers have a hereditary
will establish standards and guide practice
ploidy on a pathology report?
in cancer genetics and will help to define the
____Yes ____No
3. Tumor markers are proteins, antigens,
role of the nurse in genetic health care. This
b. Did you know that aneuploidy refers
enzymes, or genes expressed by the tu-
text will serve as a resource for nurses pre-
to DNA changes?
mor or produced by normal tissue in re-
sented with genetics issues in their practice,
____Yes ____Not sure
sponse to the tumor. For example, the
and it will provide a model for nurses as they
MYC oncogene ERBB2 (HER2-neu) is a
5a. Have you heard of vaccines for mela-
incorporate genetics into their practice.
genetic tumor marker used in the diag-
nosis and monitoring of cancer.
____Yes ____No
4. DNA analysis of solid tumors character-
Are You Using Genetic
b. Did you know that treatment by means
izes the DNA as normal (diploid) or ab-
of a vaccine is a form of gene therapy?
Information Yet?
normal (aneuploid). Aneuploidy is ab-
____Yes ____Not sure
normal or disorganized DNA. DNA
analysis helps to determine prognosis by
You may be surprised at the extent to
6a. Do you know why insurance compa-
assessing the proliferative potential of
which you already incorporate information
nies ask about family history of heart
about genetics into your practice, even
disease or cancer?
5. Vaccines are a type of gene therapy, an
though you may have no formal training in
____Yes ____Not sure
approach to cancer treatment that falls
b. Do you know the social implications
into the class of immunotherapy. Vac-
An ANA survey showed that only 9% of
of the answer to the preceding ques-
cines stimulate the immune system's
nurses in the study had genetics training.
ability to mount a response against a can-
Most (68%) indicated that they were not at
____Yes ____Not sure
cer. A cancer vaccine is designed to im-
all or not too knowledgeable about genetics.
munize patients against their own can-
However, most nurses reported performing
cers by injecting them with their own
some genetics-related activity at least occa-
tumor cells after the cells have been
sionally, with a majority citing low levels of
To see how often you use genetics infor-
modified by certain genes. The goal is to
confidence in explaining genetic informa-
mation, count the number of times you an-
make the cancer more sensitive to che-
tion (Scanlon & Fibison, 1995).
swered "yes" to questions labeled a.
motherapeutic agents.
You may be performing genetics-related
6. Family history currently is included as
activities and using genetics information with-
0 1: You seldom use genetics information.
one of the classifications of genetic in-
out recognizing it. To see how often you use
23: Like most nurses, you occasionally use
formation. Potential discrimination for
or provide genetics information, take the quiz
genetics information.
health or life insurance is an ongoing
that follows. The quiz will help you to assess
concern in cases in which the covered
your knowledge of genetics. The material that
4 6: You already use genetics information
person has a family history of cancer.
follows the quiz will present the answers.
frequently in your nursing practice.
This text will help oncology nurses to un-
The Kennedy-Kassebaum legislation,
Prognostic value and clinical implications of
disseminated cancer cells in the peritoneal cav-
derstand the genetic basis of cancer. Al-
enacted July 1, 1997, provides some pro-
ity detected by reverse transcriptase-poly-
though this text focuses on assessment, it
tection against health insurance dis-
merase chain reaction and cytology. Interna-
will help readers to explore how genetics
crimination for preexisting genetic con-
tional Journal of Cancer, 79, 429433.
will influence the entire cancer care con-
ditions for people already insured by a
Lerman, C. (1997). Psychological aspects of ge-
tinuum. The authors anticipate that our grow-
group plan. Federal workers are covered
netic testing: Introduction to the special issue.
ing knowledge of cancer genetics will serve
by an executive order that states that fed-
Health Psychology, 16(1), 37.
to further the mission of ONS: "to promote
eral employers may not use genetic in-
Lerman, C., Daly, M., Masny, A., & Balshem, A.
excellence in oncology nursing and quality
formation to deny employment, make
(1994). Attitudes about genetic testing for
cancer care."
job assignments, or guide promotion de-
breast-ovarian cancer susceptibility. Journal of
Clinical Oncology, 12, 843850.
cisions (National Human Genome Re-
National Cancer Institute. (1998). Cancer genome
search Institute, 2000). The order also
anatomy project. Retrieved August 30, 2001,
limits the ability of federal employers to
from http://cap.nci.nih.gov
collect or disclose genetic information
Bennett, W.P., Alavanja, M.C., Blomeke, B.,
National Human Genome Research Institute.
about an applicant or employee. No leg-
Vahakangas, K.H., Castren, K., Welsh, J.A., et
(2000). Background: Employment discrimina-
islation protects individuals from genet-
al. (1999). Environmental tobacco smoke, ge-
tion and the executive order. Retrieved August
ics-based discrimination regarding life
netic susceptibility, and risk of lung cancer in
30, 2001, from http://www.nhgri.nih.gov/
never-smoking women. Journal of the National
Cancer Institute, 91, 20092014.
Oncology Nursing Society. (1997). 1996 1997
Brennan, J., Mao, L., Hruban, R., Boyle, J., Eby,
annual report: Expanding our horizons. Pitts-
Y., Koch, W., et al. (1995). Molecular assess-
burgh, PA: Author.
ment of histopathologic staging in squamous-
Parker, L.S. (1995). Breast cancer genetic screen-
Your answers to the quiz probably
cell carcinoma of the head and neck. New En-
ing and critical bioethics gaze. Journal of
gland Journal of Medicine, 332, 429435.
Medicine and Philosophy, 20, 313337.
showed you that genetics is already part of
Calzone, K.A. (1997). Genetic predisposition test-
Peters, J., Dimond, E., & Jenkins, J. (1997). Clini-
your oncology nursing practice. Without re-
ing: Clinical implications for oncology nurses.
cal applications of genetic technologies to can-
alizing it, every nurse practicing in oncol-
Oncology Nursing Forum, 24, 712717.
cer care. Cancer Nursing, 20, 359377.
ogy is already using genetics information in
Collins, F. (1997). Proceedings of the National
Quirke, P., & Mapstone, N. (1999). The new biol-
the context of promoting healthful behav-
Coalition for Health Professional Education
ogy: Histopathology. Lancet, 354(Suppl. 1),
iors to prevent cancer; identifying people at
in Genetics. Bethesda, MD: National Coali-
risk for cancer; explaining features of can-
tion for Health Professional Education in Ge-
Scanlon, C., & Fibison, W. (1995). Managing
cer that affect prognosis and treatment; and
genetic information: Implications for nursing
addressing the legal, social, and ethical im-
practice [Brochure]. Washington, DC: Ameri-
Engelking, C. (1997). The applications of genetics
pacts of cancer.
can Nurses Association.
to oncology: A new health care paradigm. Inno-
Smith, K., & Croyle, R. (1995). Attitudes toward
vations in Breast Cancer Care, 2(4), 65, 69.
The work of the Human Genome Project
genetic testing for colon cancer risk. American
Giarelli, E. (1997). Medullary thyroid carcinoma:
and the mapping of protein-coding genes are
Journal of Public Health, 85, 14351438.
One component of the inherited disorder mul-
helping to unlock the molecular basis of the
Van Leeuwen, E., & Hertogh, C. (1992). The right
tiple endocrine neoplasia type 2A. Oncology
initiation, invasion, progression, and me-
to genetic information: Some reflections on
Nursing Forum, 24, 10071019.
tastasis of cancer. These findings will con-
Dutch developments. Journal of Medicine and
International Human Genome Sequencing Con-
tinue to elucidate the understanding of ev-
Philosophy, 17, 381393.
sortium. (2001). Initial sequencing and analy-
ery aspect of the cancer continuum and will
Venter, J.C., Adams, M.D., Myers, E.W., Li,
sis of the human genome. Nature, 409, 860
initiate advances with the potential for novel
P.W., Mural, R.J., Sutton, G.G., et al. (2001).
interventions in risk reduction and targeted
The sequence of the human genome. Science,
Kodera, Y., Nakanishi, H., Yamamura, Y.,
291, 1304 1351.
Shimizu, Y., Torii, A., Hirai, T., et al. (1998).
Interested in Reading More About Genetics?
Order Genetics in Oncology Practice Today
Genetics in Oncology Practice: Cancer Risk Assessment is a "must have"
for nurses who care for patients with cancer. The text contains practice
competencies, recommendations for training for each level of practice, and
information about performing an assessment from a genetic perspective,
identifying a genetic problem, and providing genetic counseling and edu-
cation. This practical, user-friendly publication is available to ONS mem-
bers for $52 and to nonmembers for $68. For more information or to place
an order, contact ONS Customer Service at 866-257-4ONS (toll free) or
412-859-6100 or visit ONS Online at www.ons.org.