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The Role of the Nurse in Cancer Genetics

Article  in  Cancer Nursing · July 2002

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© 2002 Lippincott Williams & Wilkins, Inc., Philadelphia

Lindsay Middelton, RN, CGC

Eileen Dimond, MS, RN
Kathleen Calzone, MSN, APNGc
Joie Davis, CPNP, APNGc
Jean Jenkins, PhD, RN, FAAN

The Role of the Nurse in Cancer Genetics

K E Y W O R D S Knowledge gained from the Human Genome Project and related genetic
Oncology research is already impacting clinical oncology nursing practice. Because can-
Inherited cer is now understood to be a genetic disease, changes in the traditional
Advanced practice approaches to prevention, diagnosis, and therapeutic management of cancer
Resources are becoming increasingly genetically based. Therefore, to ensure competency
in oncology nursing practice at all levels, nurses must incorporate an under-
standing of the underlying biology of carcinogenesis and the molecular ratio-
nale underlying strategies to prevent, diagnose, and treat cancer.

tion in oncology for all healthcare providers, including nurses.

䡵 Introduction Despite this lack of infrastructure, reality dictates that health-

T
his is the final article in a series of 6 articles1-5 that high-
lighted the explosion of information and technology in
the fields of molecular biology, basic human genetics,
cancer genetics, and genetic counseling. Specific attention was
given to the ramifications of the genetic revolution to the field
of oncology nursing. This article addresses the clinical applica-
tions of the molecular biologic aspects of carcinogenesis.
Cancer is a genetic disease and as such, the identification of
genes associated with cancer has revealed much about the biol-
ogy of cancer. This information is now altering methodologies
used in the diagnosis, management, and prevention of cancer.
With such a broad impact, nurses must now incorporate this
emerging paradigm into their day-to-day practice.
The authors recognize there is a lack of “infrastructure” to
support the impact of the rapid advances in genetic informa-
care providers must increase their professional knowledge
about genetics to meet the needs of this emerging patient pop-
ulation. This will first and foremost require a change in acad-
emia’s approach to educating undergraduate and graduate
nursing students about genetics. Second, continuing education
must be amplified to meet the knowledge demands of the
more than 2 million practicing nurses. Both issues are being
critically addressed.6-7
Several of the articles in this series elucidated the molecular
and biological aspects of cancer genetics. This article focuses
on the clinical applications of this knowledge to oncology
nursing practice. It is written as an exemplar of how practice
can and should be evolving in cancer genetics. Please read it as
an educational tool that seeks to promote a change in oncol-
ogy nursing practice.

From the Urology Oncology Branch, National Cancer Institute, National
Institutes of Health, Bethesda, Md (Ms Middelton); National Naval Medical
Center, National Cancer Institute, National Institutes of Health, Bethesda,
Md (Ms Dimond and Dr Jenkins); Breast Cancer Risk Evaluation Program,
University of Pennsylvania, Philadelphia, Pa (Ms Calzone); and National
Human Genome Research Institute, National Institutes of Health, Bethesda,
Md (Ms Davis).
Corresponding author: Lindsay Middelton, RN, CGC, NIH/NCI/UOB,
Building 10, Room 10S251, 10 Center Dr, Bethesda, MD 20892-1873.
Accepted for publication February 14, 2002.

196 ■ Cancer Nursing™, Vol. 25, No. 3, 2002 Middelton et al

Background
For years, astute clinicians noted the clustering of certain cancers
within kindreds (families). An overabundance of breast–ovarian,
colon–endometrial, and melanoma were noted in certain families
that appeared to have an inherited genetic predisposition. Obser-
vations of these apparent “familial cancer syndromes” were often
met with skepticism because genetic mutation analysis remained
an unavailable technology to prove suspicion.
Hereditary nonpolyposis colorectal cancer (HNPCC) is an
excellent example of the tenacity required to validate the exis-
tence of a hereditary cancer predisposition within a family. In
1913 Dr Albert Warthin, a professor of pathology, first noted a
family in which multiple members had been diagnosed with
colon carcinoma. This family was studied throughout numerous
decades and subsequently named “cancer family G” by Dr Henry
Lynch, an oncologist interested in familial colorectal cancer. He
observed early onset often right-sided colorectal cancer in
patients who frequently had a better clinical outcome than their
nonfamilial counterparts. The genetic basis of HNPCC syn-
drome, originally named “Lynch” syndrome, was finally proven
after 50 years of data collection, when HNPCC gene mutations
were identified in these families.8 The genetic basis of a number
of hereditary cancer syndromes is now understood (Table 1).
With the ability to identify certain inherited cancer predispo-
sition syndromes, many families are seeking information about
the possibility that the cancer present in their families is herita-
ble. Individuals seek this information for a variety of reasons:
learning about recommended medical surveillance guidelines
for early detection of more curable cancers, avoidance of costly
and uncomfortable surveillance procedures if unwarranted,
family planning, chemoprevention, enrollment in clinical tri-
als with novel targeted drugs, and satisfaction of the “need to
know.” From a treatment perspective, routinely selected
chemotherapy drugs or standard surgical or radiation proce-
dures may not be as effective or may even promote tumors in
patients who harbor cancer gene mutations. Information from
the rapidly expanding field of pharmacogenetics will soon pro-
vide tumor-specific indications for therapeutic intervention.
Clearly, knowledge gained from the genetic revolution is alter-
ing the course of clinical management of these patients and
their families.
䡵 Incorporating Cancer Genetics Into
Nursing Practice
With the genetic revolution now a reality, altering the way
much of medicine is practiced, we may wonder how this will
impact the practice of oncology nursing. All cancer is genetic
at the level of the cell and is caused by an accumulation of mol-

Table 1 • Hereditary Cancer Syndromes

Cancer Gene Syndrome Other Cancers/Features

Colon APC FAP Small bowel, jaw osteomas, and

desmoid tumors (Gardner syndrome),
medulloblastoma (Turcot syndrome)
Colon MSHS2, MLH1 HNPCC Endometrium, small bowel, gastric,
upper urinary tract, skin
(Muir-Torres), brain, ovarian
PMS1
PMS2
Breast/ovary BRCA1 Familial Breast Cancer 1 Ovarian/prostate
Breast BRCA2 Familial Breast Cancer 2 Male breast cancer; pancreatic
Renal VHL Von Hippel Lindau Pheochromocytoma, hemangioblastoma,
retinal angioma, endolymphatic sac tumor
MET Hereditary papillary renal cancer (HPRC) None
Linkage to 17 Birt Hogg Dube syndrome Fibrofolliculomas, spontaneous
pneumothorax
Melanoma CDKN2A P16, Familial melanoma Dysplastic nevi, pancreatic
MTS1
CDK 4
Retinoblastoma RB1 Retinoblastoma Osteosarcoma
Neurofibromatosis NF1 Neurofibromatosis 1 Neurofibromas, Lisch nodules, café-au-lait spots
Vestibular NF 2 Neurofibromatosis 2 Meningiomas, glioma
Schwannomas
Wilms tumor WT1 Wilms tumor Aniridia, genitourinary abnormalities, mental
retardation
Sarcoma P53 Li-Fraumeni syndrome Breast, brain, osteosarcoma, leukemia,
adrenocortical cancer
Pancreatic islet cell RET Multiple endocrine neoplasia MEN 1 Parathyroid hyperplasia, pituitary adenomas
Medullary thyroid RET Multiple endocrine neoplasia MEN 2

The Role of the Nurse in Cancer Genetics Cancer Nursing™, Vol. 25, No. 3, 2002 ■ 197
ecular changes. However, this does not mean that all cancers
are inherited; most genetic changes are acquired over the life-
time. If one considers the impact of these statements on
healthcare in general, and nursing in particular, one sees the
need for a philosophic shift in the way health and illness,
including cancer care, are viewed.
Cancer must now be viewed as a genetic disease caused by
genetic instability at the cellular level. A person’s cancer risk is
the culmination of both acquired and inherited genetic
changes.9 Nurses are increasingly involved in cancer risk assess-
ment, patient education, and identification of patients/families
who appear to be at an increased risk of an inherited form of
cancer.
In response to the infusion of genetic information relating
to cancer, the Oncology Nursing Society convened a “Think
Tank” to determine the impact on oncology nursing practice.
The conclusion of this panel of experts is that it is unrealistic
to expect every oncology nurse to be an expert in cancer genet-
ics, just as not all oncology nurses are experts in bone marrow
transplant. However, all oncology nurses are expected to have
some knowledge of the basic concepts of involved in bone
marrow transplant. Therefore, the panel acknowledged that
there are levels of expertise within cancer genetics that require
varied levels of education and clinical training.10-12 For cancer
genetics, the levels of genetic nursing practice include the par-
ticipating general oncology nurse (GON) and the advance
practice oncology nurse (APON) whose primary clinical roles
and functions relate to other aspects of the care and manage-
ment of patients with cancer. The clinical role of the APON
with a specialty in cancer genetics (APON/G) is based on a
comprehensive foundation of cancer genetic knowledge.13 In
today’s healthcare setting, to ensure competency in practice, all
nurses must be “genetically cognizant,” but the roles expecta-
tions will vary depending on practice setting and expected level
of performance.13
䡵 The General Oncology Nurse
The GON, armed with basic genetic information, can assess a
patient’s family history, initiate case identification and referral,
and offer psychologic support and successful adaptive
responses of both patient and family upon their return from a
cancer genetics consultation. The GON also reinforces health
promotion behaviors concerning cancer and evaluates the
impact of the genetic condition, therapeutics, or testing on the
patient.10,14
䡵 The Advanced Practice
Oncology Nurse
The APON can expect to receive referrals regarding “high-
risk/familial-looking” cases and should have the ability to
expand the family history and refer the patient/family to a
comprehensive cancer genetics program (Table 2). He or she
may also case manage the patient through the system, serving
198 ■ Cancer Nursing™, Vol. 25, No. 3, 2002
as a liaison with the APON/G to route the patient to the
appropriate program and coordinate return to the community
system. On the patient’s return, the APON can establish the
patient’s level of understanding, clarify misconceptions, and
reinforce screening recommendations.
䡵 The Advanced Practice Oncology
Nurse With a Specialty
in Cancer Genetics
The APON/G has advanced training in genetics and functions
in an environment with experienced resources (colleagues)
readily accessible. He or she often coordinates the specialty
clinic and will be the first contact for a referring colleague. The
APON/G will expand and document the family history and
seek pathologic confirmation of cancer diagnoses. The
APON/G provides education and counseling in conjunction
with a multidisciplinary team regarding multiple complex
issues. These may include: discussion about the benefits, limi-
tations, and risks of genetic testing; obtain informed consent;
provide test results within the context of a post-test counseling
session; and liaison with the referring healthcare provider
regarding expected follow-up and surveillance guidelines. He
or she may also contact family relatives, if the patient is shown
to carry a gene mutation and wishes to make extended family
aware of this critical information. The APON/G may facilitate
the contacting of family members, but contact only occurs
only after permission is obtained from the at-risk relative. The
APON/G also acts as a resource for education and information
to healthcare professional colleagues.10,14,15
䡵 Completing a Family History for the
General Oncology Nurse and Advanced
Practice Oncology Nurse
Obtaining a cancer family history should be a critical compo-
nent to any nursing health assessment. To elicit this informa-
tion, most nurses ask the patient “Do you have any family his-
tory of cancer?” Unfortunately, this approach automatically
puts patients in the position of determining what is and what
is not significant regarding their family medical history. For
example, many individuals continue to have the misconcep-
tion that a paternal family history of breast cancer has no bear-
ing on a woman’s risk for breast cancer and therefore, may not
volunteer information about that portion of their family his-
tory. To avoid this pitfall, the nurse should ask direct questions
regarding the health histories of individual family members,
including both maternal and paternal blood relatives and their
relationship within the family.
The family history should cover 3 generations, if possible,
and provide health information about both affected and unaf-
fected relatives. Documented information should include
diagnosis, age at diagnosis, and age at death, if applicable. Rep-
resentation of the family history in pedigree format using stan-
Middelton et al
 Table 2 • Professional Organizations and Other Helpful Resources
Organization Address Telephone/Web Site Resource

Genetic Alliance
American Academy of Nursing
American Nurses Association
American Society of Clinical
Oncology (ASCO)
Ethical, Legal and Social
Implications Branch (ELSI)
Genetics Education Center
International Society of Nurses
in Genetics (ISONG)
National Cancer Institute
(NCI)
NNCI Genetic Director
National Coalition for Health
Professional Education in
Genetics (NCHPEG)
National Institute for Human
Genome Research (NHGRI)
Oncolink
Oncology Nursing Society
(ONS)
National Society of Genetic
Counselors (NSGC)
Physician’s Database Query
(PDQ)
4301 Connecticut Ave,
NW Suite 104
Washington, DC 20008
600 Maryland Ave
SW Suite 100 W
Washington, DC 20024
600 Maryland Ave Suite 100 W
Washington, DC 20024
1900 Duke St, Suite 100
Alexandria, VA 22314
NHGRI / NIH Bldg 31,
Rm. B2-B07
Bethesda, MD 20892
7 Haskins Rd
Hanover, NH 03755
NIH / NCI Bldg. 3 Rm 4B-09
Bethesda, MD 20892
NIH / NHGRI Bldg. 31,
Rm 4B-09
Bethesda, MD 20892
501 Holiday Dr
Pittsburgh, PA 15220
233 Canterbury Dr
Wallingford, PA 19086-6617
NIH / NCI
1(800) 336-GENE Resource material for patients
geneticalliance.org
(202) 651-7238 Monograph on genetics in nursing
(800) 274-4264
(703) 299-0150 Oncosep: a genetics self-education
www.asco.org program; ASCO cancer genetic
slide set; genetic programs at
every annual meeting
(301) 402-4997 Fact sheets, press releases, grants
www.kumc.edu/gec Links to a variety of clinical, and
educational resources
(603) 643-5706 Bibliography of nursing literature in
www.nursing. genetics; offer APNGc credential
creighton.edu/isong by portfolio; position statement
(301) 496-6631 Many educational resources
www.nci.nih.gov
www.cancer. Cancer genetic professional directory
gov/search/genetics
www.nchpeg.org A national coalition for genetic
education of practicing healthcare
providers; published study of
nurses’ genetic knowledge
(301) 496-084
www.nhgri.nih.gov
www.oncolink.upenn.edu
www.ons.org Genetics and cancer care tool kit;
(412) 921-7373 position statements
(610) 872-5959 Position statements, cancer
www.nsgc.org counselor directory
www.cancer.gov/ Options for cancer genetics clinical
cancer-information/pdg trials
1(800) 4-CANCER

dard pedigree nomenclature (Figure 1) enables the nurse to
recognize a potential inheritance pattern. When obtaining a
family history, the nurse should proceed in a stepwise manner,
starting with first-degree relatives (children, siblings, parents),
proceeding to both maternal and paternal second-degree rela-
tives (aunts, uncles, grandparents), and, whenever possible, to
third-degree relatives (cousins, great grandparents, great aunt,
great uncles). The critical components of a cancer family his-
tory should include details of all cancers, specifically the pri-
mary site, the presence of bilateral disease in paired organs (eg,
the breasts, eyes, or ovaries), and the age at diagnosis and
death, if applicable.
The nurse should also inquire about the presence of con-
sanguinity (intermarriage among relatives) because this may
increase risk.16,17 The race and ethnic background of each fam-
ily branch should also be obtained, because ethnicity has been
identified as a factor in certain hereditary cancer syndromes. In
some heritable cancer syndromes, genetic alterations have been
associated with different ethnic groups, such as those of Ashke-
nazi Jewish descent.18-20
䡵 Hallmarks of Inherited Cancers
GONs and APONs should become familiar with several clin-
ical hallmarks associated with an inherited susceptibility to
cancer to interpret any family history information collected.
Cancers often occur at a younger age than the sporadic cancers
observed in the general population, often are bilateral in paired
organs (breasts, ovaries, kidneys), and often are multifocal
(multiple sites within a single organ). Several affected relatives
in multiple generations are generally affected, revealing a lin-

The Role of the Nurse in Cancer Genetics Cancer Nursing™, Vol. 25, No. 3, 2002 ■ 199

Figure 1 ■ Common symbols required for pedigree con-
struction.
ear pattern of transmission. Individuals also may present with
more than one primary cancer. The nurse should look for the
presence of these “red flags” (Figure 2) and assess for the pres-
ence of cancers known to be associated with identified cancer
syndromes21 (Table 1).
Cancer is a common disease and occurs as a sporadic event
in the majority of people who develop cancer. Familial cancer
clustering can occur as the result of multiple genetic effects,
shared environmental factors, and/or culturally transmitted
risk factors (ethnicity, diet, etc) or coincidence. However, in a
Early age of onset (<50 y)
Bilateral cancer in paired organs
Multifocality, the presence of multiple distinct
tumors in one organ
Evidence of autosomal-dominant inheritance
(linear)
Cancer in two or more first- or second-degree
relatives
Multiple primary cancers in the same individual
Constellation of cancers in a patient or family rec-
ognized as part of an identified cancer syndrome
Figure 2 ■ Features suggestive of inherited susceptibility to
cancer: clinical “red flags.”
200 ■ Cancer Nursing™, Vol. 25, No. 3, 2002
Figure 3 ■ KMC’s sister was recently diagnosed with breast
cancer.
small percentage of patients, the cancer occurs as the result of
inheriting from a parent a mutation in a major gene predis-
posing to cancer.
䡵 Case Study Illustration
KMC is a 34-year-old Caucasian woman who presented to her
primary care physician for a routine health maintenance exam-
ination, and she was accompanied by her sister. As part of the
intake history performed by the nurse, KMC indicated that
her sister was recently diagnosed with breast cancer at age 41,
and she was now concerned about her own breast cancer risk
(Figure 3). When KMC was assessed for the presence of any
prior breast problems, she reported a history of fibrocystic dis-
ease. She does not perform breast self-examination because her
breasts are so “lumpy.”
As part of the intake assessment, the GON obtains a brief
family medical history, which revealed two additional first-
degree relatives with breast cancer. KMC’s mother and her
younger sister, who died from the disease at age 35, both had
breast cancer (Figure 4). Noting the presence of multiple
affected family members, early age of onset (2 of 3 diagnosed
under age 50), and 2 generations affected with breast cancer,
the nurse recognizes the “red flags” of a potential inherited
breast cancer syndrome in this family. At this point, the nurse
should share her assessment with his or her physician colleague
and an APON, if one is available, to expand the pedigree and
assist with a potential referral to a specialized cancer risk pro-
gram. To locate a program near you, contact the Oncology
Nursing Society, which has a directory of “Cancer Genetics
Risk Counseling” or the National Cancer Institute’s genetic
directory (Table 2).
Figure 4 ■ The pedigree reveals 2 other first-degree rela-
tives with breast cancer.
Middelton et al

䡵 Advanced Practice Oncology Nurse
Assessment and Education
After referral to the APON, a more in-depth assessment
should occur, extending the family history and obtaining
information about lifestyle patterns, exposure to environmen-
tal carcinogens, and both maternal and paternal ethnicity. The
APON should also include questions about prior prophylactic
surgery and other health problems present in other family
members. Although the APON may not know the specific
clinical significance of this information, the team evaluating
the pedigree upon referral will use this information. For
instance, some genetic disorders may predispose to cancer, but
the primary manifestation may not be cancer (eg, ataxia
telangiectasia presents with cerebellar ataxia).
Family medical histories should be constructed in pedigree
fashion, as described in a previous article in this series, to facil-
itate the assessment of a cancer family history. A pedigree refers
to the illustration of a family tree using symbols to illustrate
gender, family relationships, disease status, whether the indi-
vidual is living or deceased, and the designation of the proband
(affected) and/or the consultant, the individual providing the
initial information. The multidisciplinary assessment of the
significance of a cancer family history is facilitated by pedigree
analysis. The Pedigree Standardization Task Force of the
National Society of Genetic Counselors published standard-
ized human pedigree nomenclature.22 Figure 1 provides some
of the most common symbols required to construct a pedigree.
For further explanation of pedigree construction, refer to the
second article in this series.2
On the basis of the assessment completed by the APON,
education should be individually tailored to the patient’s cur-
rent understanding, education level, risk perception, and per-
sonal and family medical histories. Education should be sensi-
tive to the individual’s personal and cultural beliefs and should
clarify misconceptions. The goal of the education is to increase
the patient’s knowledge regarding cancer etiology (genetic and
Figure 5 ■ KMC provides sufficient information for an assessment of the significance of her history.
The Role of the Nurse in Cancer Genetics
environmental) and to explain why his or her particular situa-
tion requires further investigation.
Currently, most GONs are not adequately prepared to
address the complex issues associated with an inherited sus-
ceptibility to cancer. The APON can greatly enhance educa-
tion in this practice area. Serving as a consultant, he or she acts
as a resource for basic information, providing more detailed
assessment and education and assisting with referrals. The
authors recognize this clinical area often will be unfamiliar ter-
ritory for both the GON and a seasoned APON, but both
written literature and Internet information is available, and
access is growing (Table 2).14,15
The APON should collaborate with other healthcare pro-
fessionals to refer to specialists as indicated. This approach
allows the diversity of issues faced by a patient or family to be
addressed by the healthcare professionals with the most exper-
tise. The provision of cancer genetic services can be multidis-
ciplinary in nature or through a single provider. Health pro-
fessionals providing genetic services include nurses,
oncologists, geneticists, genetic counselors, and others. The
National Cancer Institute developed a directory of profession-
als from various disciplines that provide cancer genetic ser-
vices. The Genetic Directory can be accessed through 800-4-
CANCER or via the Internet at http://www.cancer.gov/
search/genetics/genetics_services/. This is a good resource
directory, but it does not critique registrants. In other words,
you cannot assume the quality of services provided by the indi-
vidual/center has been determined because it is listed in this
directory.
䡵 Continuation of Case Study
The APON met with KMC and her sister to construct a pedi-
gree of both her maternal and paternal family history of can-
cer. KMC did not know many of the requested details about
her family but was able to provide sufficient information for an
assessment about the significance of her history (Figure 5).
Cancer Nursing™, Vol. 25, No. 3, 2002 ■ 201
 On the basis of the pedigree, the APON determined that
the maternal family history of breast cancer did not demon-
strate any features associated with an inherited cancer suscep-
tibility. However, the paternal family history was consistent
with hereditary breast–ovarian cancer syndrome, which is asso-
ciated with alterations in BRCA1 and BRCA2 genes.
A brief personal health assessment demonstrated that KMC
had no prior breast or gynecologic problems and that she had
never had a mammogram. Because the purpose for KMC’s
visit was for a routine health maintenance examination, a
physical examination was to be performed by KMC’s primary
care physician.
The APON expanded the previous assessment to determine
KMC’s understanding about her risk for breast cancer. KMC
reported that her sister’s oncologist told her that she was at an
increased risk for breast cancer on the basis of early onset of
breast cancer in her 2 sisters. KMC was instructed to begin
mammography at age 40 and to perform monthly breast self-
examination (BSE), but she was not comfortable with her
technique because she often felt breast lumps.
KMC indicated that she was not aware of hereditary
breast–ovarian cancer syndrome or that genes causing this syn-
drome had been determined. She reported that she had never
been told that her father’s family history could have an impact
on her risk for cancer or that she may be at an increased risk
for ovarian cancer. The APON provided KMC and her sister
with some basic information about Mendelian inheritance and
hereditary breast–ovarian cancer syndrome. KMC was
instructed in BSE and performed the BSE under the guidance
of the APON.
After discussing findings from the initial assessment with
the patient’s primary care physician and nurse coordinator at
the genetic specialty clinic, the APON obtained permission
from KMC to forward her pedigree to the genetics specialty
clinic and initiated a referral for evaluation and a comprehen-
sive cancer risk assessment. The original referring nurse was
unfamiliar with the details of hereditary breast–ovarian cancer
syndrome, so in follow-up, the APON provided this nurse and
her colleagues with an overview of the features and genes asso-
ciated with this syndrome and supplied additional resource
materials.
䡵 Assessment by the Genetics
Advanced Practice Oncology Nurse
Once referred into a cancer genetics program, the patient can
expect a more comprehensive assessment of the family history.
Histories include a minimum of 3 generations for both mater-
nal and paternal relatives and more, if reliable information is
available. Attempts are made to confirm the family history
with death certificates or medical records, preferably pathology
reports when available. Love et al23 found that the greater the
generational distance of the family member from the proband,
the greater the likelihood that the proband will misidentify the
primary cancer diagnosis. The family pedigree documents the
202 ■ Cancer Nursing™, Vol. 25, No. 3, 2002
basis for suspecting the presence of an inherited susceptibility
to cancer and becomes the foundation for calculating cancer
risk in the absence of genetic testing. An incorrect family his-
tory can dramatically influence what risk information is pro-
vided to an individual.
The nursing assessment also includes the patient’s personal
medical history, current cancer risk management/screening
plan, barriers to that plan, and evaluation of the individual’s
understanding of the cancer etiology in the family. An essen-
tial component of this evaluation is an assessment of the indi-
vidual’s prior life experiences with cancer and her perception of
her own cancer risk. Exploration of the patient’s coping style
and available support system is another aspect of a typical can-
cer counseling session. The APON/G should also explore how
the patient believes she may handle additional information
about her risk for cancer in the context of her family values.
For example, in some families at risk of breast cancer, the nor-
mative family value may be to pursue genetic testing, and if a
mutation is found, women at risk may choose to undergo pro-
phylactic surgery (mastectomy and/or oophorectomy). Indi-
viduals choosing another option may often experience intense
family coercion.
䡵 Education
Education is the foundation of cancer risk counseling. Models
for cancer risk education include individual sessions and small
group sessions. More recently, research has begun evaluating
the use of interactive educational computer programs. If group
sessions are used, meeting individually with the patient to dis-
cuss how this information applies to her and addressing indi-
vidual questions is optimal. Education topics generally include
the etiology of cancer, cancer risk factors, basic genetics, hered-
itary factors, and aspects of predisposition genetic testing if
indicated. Other options for calculating cancer risk, strategies
for cancer risk management, and potential psychosocial impli-
cations of cancer risk assessment and testing should also be dis-
cussed.
䡵 Cancer Risk Counseling and
Predisposition Genetic Testing
Predisposition genetic testing is not the only mechanism for
calculating risk. Patients should always be informed about risk
calculations using other methods to determine risk such as
empirical models or epidemiologic studies. The APON/G is
often involved in the process of calculating and delivering can-
cer risk information as well as genetic test results.
Risk information should be presented in a quantitative fash-
ion within the context of a time frame. For example, a 25-year-
old woman currently identified with a mutation in BRCA1
could be informed that she has an 85% lifetime risk of breast
cancer. Another approach that helps to avoid misinterpretation
is to provide her current age-specific risk followed by her risk
Middelton et al
in 10-year increments until age 85, when her risk could be as
high as 85%. Risk information should also be presented as to the
likelihood that an individual would not develop cancer, again
quantitatively over a time frame. The nurse should emphasize that
risk estimates are not precise but are predictions and that they help
determine cancer risk management plans, but they are not esti-
mates about the risk of death. Furthermore, these estimates are
influenced by information the patient provides and may change as
additional family history becomes available or scientific knowl-
edge increases.24
For individuals interested in testing, the nurse should expand
the assessment to include the patient’s motivation for genetic test-
ing and the way he or she intends to use the information.25 Pre-
disposition genetic testing has risks, limitations, and benefits that
individuals considering testing must weigh before pursuing this
type of information.4
The APON/G also plays a primary role in the provision of psy-
chosocial support services. Effective strategies used for the oncol-
ogy patient, such as support groups, ongoing educational semi-
nars, peer counselors, and individual counseling, should all be
considered options for families at an increased risk for cancer,
whether or not they have undergone predisposition genetic test-
ing.
䡵 Informed Consent
If genetic testing for inherited susceptibility is a desired option for
the patient, the process should involve an extensive informed con-
sent process. A patient’s consent to undergo genetic testing must
be voluntary and should not prejudice the patient’s future health-
care. The APON/G participates in and facilitates patient decision
making. The goal of the informed process should be to help the
patient to understand and consider the following:
• Risks, benefits, and limitations of testing.
• Potential outcomes of the test.
• Test sensitivity and specificity.
• Available cancer risk management strategies and limitations.
• Right to refuse testing or refuse to receive results when the
analysis is completed.
• Alternatives to genetic testing.
䡵 Collaboration
Although nurses with expertise in cancer genetics are capable of
seeing patients through the process of risk assessment, counsel-
ing/education, testing, and risk and/or results notification, they do
not do so in a vacuum. A multidisciplinary team approach is the
standard in many academic cancer centers. Consultation within
the team occurs regularly, and often a genetic counselor with
expertise in cancer may co-counsel the patient with one or more
members of the team. In addition to the APON/G, the multidis-
ciplinary team may include an oncologist, a geneticist, a genetic
counselor, a social worker, a psychologist, or others with an exper-
tise in cancer. Given the scope and the uniqueness of each
The Role of the Nurse in Cancer Genetics
case/family history, collaborative practice is as important in cancer
genetics as it is in all clinical genetic services.
䡵 Results Notification
The APON/G also plays a primary role in the provision of genetic
results within the context of a counseling session. A review of the
sensitivity and specificity of the specific genetic test generally
occurs, and a recommended surveillance program is outlined. It is
often during the results session that the patient explores ramifica-
tions to other family members and potential family reactions are
explored. The APON/G explores the patient’s reaction to the pos-
itive or negative test result and determines an appropriate time for
follow-up based on the patient’s perceived reaction.
䡵 Follow-up
Follow-up is an essential component of the cancer risk counseling
session. Information about cancer risk, genetics, and risk manage-
ment is complex, and patients often benefit by having a review of
their individual session and circumstances in writing, as well as
other written educational materials that can be referenced at home
after counseling. A 2-week follow-up phone call with the nurse
may help the nurse verify patient understanding of the informa-
tion provided and provides an opportunity for the patient to ask
questions that arose subsequent to the counseling session.
On completion of services in the cancer genetics clinic, the
APON/G will communicate with the referring healthcare
provider, offer availability to answer questions and provide rele-
vant resources, thus ensuring continuity of care for the patient.
This communication should occur only with the patients’ written
consent and reveal only the information the patient wishes to
share.
䡵 Case Study Conclusion
The APON/G met with KMC and her sister for a comprehensive
cancer risk counseling session, which included a physical exami-
nation and expansion of the pedigree (Figure 6) previously con-
structed by the APON. After the initial session, KMC and her sis-
ter were motivated to learn more about their family history.
Medical records were obtained on the majority of affected indi-
viduals in the family.
Review of the complete pedigree and available medical
information indicated that KMC’s family cancer pattern was
consistent with breast–ovarian cancer syndrome associated
with alterations in BRCA1 and BRCA2 genes. At the second
visit with the APON/G, interpretation of the pedigree was
provided and predisposition genetic testing was offered as an
option for cancer risk assessment. KMC’s sister, who had
breast cancer, was offered testing, because she was known to
be affected. After the informed consent process, KMC’s sis-
ter consented to genetic testing, and a blood sample was
drawn.
Cancer Nursing™, Vol. 25, No. 3, 2002 ■ 203
Figure 6 ■ The complete pedigree indicated breast/ovarian cancer associated with alterations in the BRCA1 and BRCA2 genes.
KMC and her sister returned for a third visit for result dis-
closure with the multidisciplinary team. The sister harbored a
BRCA1 alteration. On the basis of that finding, KMC and sev-
eral other family members decided to undergo education,
counseling, and testing. KMC was ultimately found to be the
only member among the siblings who had not inherited the
BRCA1 alteration associated with the cancer in the family.
Approximately 2 weeks after result disclosure, in follow-up by
telephone conversation, KMC verbalized her understanding
that as a result of the negative BRCA1 DNA test, her risk for
breast cancer was the same as any other woman her age, and
that her children were not at risk to inherit the gene predis-
posing to breast/ovarian cancer. She indicated she was pleased
about her own genetic status, but worried about her siblings.
䡵 Indirect Nursing Roles
In addition to direct patient care, nurses have a growing
responsibility to influence the field of cancer genetics indi-
rectly through health policy and research.
䡵 Health Policy
Individuals at increased risk for cancer secondary to a positive
family history and/or an inherited predisposition may face dis-
crimination from employers or health, life, and disability
insurers.26,27 Nurses acting as patient advocates can provide
needed support to ongoing legislative issues regarding discrim-
ination, privacy, and confidentiality of genetic information.
䡵 Nursing Research
The field of cancer genetics is progressing rapidly, possibly
resulting in premature clinical application of some genetic tests
for cancer susceptibility. Cancer genetic testing and cancer risk
counseling may be occurring before the implications of risk
information are clearly understood or before the best methods
204 ■ Cancer Nursing™, Vol. 25, No. 3, 2002
for counseling are determined. Nursing research is needed con-
cerning all aspects of cancer risk counseling and the genetic
testing process. Long-term outcomes research will provide
valuable and needed data regarding the clinical implications of
this emerging practice arena.28
䡵 Conclusion
The authors acknowledge the challenges facing all nurses today
with respect to the emerging presence of genetics in practice.
Nurses cannot ignore the reality of genetics and its impact on
patients and families. The public, educated by the media,
expect nurses, as part of their healthcare team, to answer ques-
tions related to inherited cancers and cancer genes or expect
referral to a reliable resource for further information. Although
this may seem daunting at present, oncology nurses need only
to think back 15 to 20 years when only physicians gave
chemotherapy and nurses did not understand either the phys-
iology of the bone marrow or the global effects of chemother-
apy on a patient’s system.
Oncology nurses in the 21st century must understand the
molecular rationale of prevention, carcinogenesis, diagnosis,
prognostic indicators, and management strategies. In all cases,
the scientific basis will be molecular genetics. Therefore, to
provide competent oncology nursing care in today’s healthcare
environment, all oncology nurses must have a foundation of
genetic knowledge. Oncology nurses are ideal for providing
comprehensive nursing care in the arena of cancer genetics and
for meeting the needs of the increasing number of individuals
seeking cancer care.
䡵 Resources and Referral Information
The demand of patients and providers for knowledgeable
genetic resources is growing. The information provided in the
Tables 1-4 is far from inclusive yet seeks to provide a starting
place for further education and information.
Middelton et al
 Table 3 • Policy and Position Statements
Document Citation

American Society of Human Genetics on Clinical Genetics and Freedom of Choice Am J Hum Genet. 1992;48:1011
ASHG Human Genome Committee Report: The Human Genome Project: Am J Hum Genet. 1991;49:687-691.
Implications for Human Genetics
Genetic Testing and Insurance Am J Hum Genet. 1995;56:327-331.
National Action Plan on Breast Cancer Position Paper on Hereditary Susceptibility J Clin Oncol. 1996;14:1738-1740.
Testing for Breast Cancer
Recommendations for Follow-up Care of Individuals with Inherited Predisposition JAMA. 1997;277:915-919.
to Cancer (HNPCC)
Recommendations for Follow-up Care of Individuals with Inherited Predisposition JAMA. 1997;277:997-1003.
to Cancer (BRCA1 and BRCA2)
Statement of the American Society of Clinical Oncology: Genetic Testing for J Clin Oncol. 1996;14:1730-1736.
Cancer Susceptibility
Statement of the American Society of Human Genetics on Genetic Testing for Am J Hum Genet. 1994;55:i-iv.
Breast and Ovarian Cancer Predisposition
Statement of the American Society of Human Genetics on Points to Consider: Am J Hum Genet. 1995;57:1233-1241.
Ethical, Legal, and Psychosocial Implications of Genetic Testing in
Children and Adolescents
Statement on Informed Consent for Genetic Research Am J Hum Genet. 1996;59:471-474.
Statement on Use of DNA Testing for Presymptomatic Identification of Cancer Risk JAMA. 1994;271:785.
Position Statement on Decision-Making and Informed Consent Adopted by ISONG, 2000
www.nursing.creighton.edu/isong
Position Statements adopted by ONS Available at: http://www.ons.org
Cancer Genetic Testing and Risk Assessment Adopted 1997
Cancer Research and Cancer Trials Adopted 1998
Role of the Oncology Nurse in Cancer Genetic Counseling Adopted 1997 Revised 2000
Role of the Advanced Practice Nurse in Oncology Care Adopted 1995 Revised 2001
Position Statements adopted by NSGC Available at: www.nsgc.org
Confidentiality of Test Results Adopted 1991
Disclosure and Informed Consent Adopted 1991
Access to Care Adopted 1991
Nondiscrimination Adopted 1991
Genetic Screening Adopted 1994

Table 4 • Academic and Continuing Education: Academia

Institution Place Contact Program

University of Iowa Iowa City, Iowa Dr Janet Williams Doctorate

(319) 335-7046
Columbia University New York, NY Office of Student Affairs Master’s with subspecialty in
School of Nursing (212) 305-5756 clinical genetics
Fox Chase Cancer Center Philadelphia, Pa Agnes Masny Short course in cancer genetics
(215) 728-2892
University of Cincinnati Cincinnati, Ohio Marcia Herr, RN, MSN Post-master’s certificate program
College of Nursing (513) 558-521
University of Washington Seattle, Wash Betty Galluci, RN, PhD Advanced practice genetic
(206) 616-1961 nursing, MSN
University of Colorado Denver, Colo Anne L. Matthews, RN, PhD Genetic counseling program
Health Science Center (216) 368-1821 MS in Genetic Counseling
City of Hope Medical Center Duarte, Calif Deborah MacDonald, RN, MS, CS Offers semiregular short courses
(626) 359-8111 in cancer genetics
Southern Maine Regional Portland, Maine Dale Halsey Lea, RN, MPH Offers regular short courses in
Genetic Services Program (207) 883-4131 genetics
National Institute of Nursing Bethesda, Md sgi@mail.nih.gov Summer genetics institute for
Research NINR www.nih.gov/ninr school of nursing faculty

The Role of the Nurse in Cancer Genetics Cancer Nursing™, Vol. 25, No. 3, 2002 ■ 205
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