© 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.

⬛ Introduction Despite this lack of infrastructure, reality dictates that

T
his is the final article in a series of 6 articles 1-5 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-
health- 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, Naval Medical Center, National Cancer Institute, National Institutes of
National Institutes of Health, Bethesda, Md (Ms Middelton); National Health, Bethesda, Md (Ms Dimond and Dr Jenkins); Breast Cancer Risk

The Role of the Nurse in Cancer Cancer Nursing™, Vol. 25, No. 3, 2002 ■ 1
Evaluation Program, University of Pennsylvania, Philadelphia, Pa (Ms
Human Genome Research Institute, National Institutes of Health, Bethesda,
Calzone); and National
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.

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

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

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
Vestibular NF 2 Neurofibromatosis 2 spots 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

The Role of the Nurse in Cancer Cancer Nursing™, Vol. 25, No. 3, 2002 ■ 3
 Medullary thyroid RET Multiple endocrine neoplasia MEN 2

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

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
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.
⬛ 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
serving

⬛ 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

⬛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,
The Role of the Nurse in Cancer Cancer Nursing™, Vol. 25, No. 3, 2002 ■ 5
⬛ 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-

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

 Table 2 • Professional Organizations and Other Helpful Resources
Organization
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)
Address
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
Telephone/Web Site Resource
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
The Role of the Nurse in Cancer
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
⬛ 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
Cancer Nursing™, Vol. 25, No. 3, 2002 ■ 7
generally affected, revealing a lin-

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


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
Figure 2 ■ Features suggestive of inherited susceptibility to
cancer:
Earlyclinical
age of“red flags.”
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
The Role of the Nurse in Cancer
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.
⬛ 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.
Cancer Nursing™, Vol. 25, No. 3, 2002 ■ 9

⬛ 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
10 ■ Cancer Nursing™, Vol. 25, No. 3, 2002
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.
⬛ 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).
Middelton et al
Figure 5 ■ KMC provides sufficient information for an assessment of the significance of her history.

The Role of the Nurse in Cancer Cancer Nursing™, Vol. 25, No. 3, 2002 ■
 On the basis of the pedigree, the APON determined that basis for suspecting the presence of an inherited susceptibility
the maternal family history of breast cancer did not demon- to cancer and becomes the foundation for calculating
strate any features associated with an inherited cancer suscep- cancer risk in the absence of genetic testing. An incorrect
tibility. However, the paternal family history was consistent family his- tory can dramatically influence what risk
with hereditary breast–ovarian cancer syndrome, which is information is pro- vided to an individual.
asso- ciated with alterations in BRCA1 and BRCA2 genes. The nursing assessment also includes the patient’s personal
A brief personal health assessment demonstrated that KMC medical history, current cancer risk management/screening
had no prior breast or gynecologic problems and that she plan, barriers to that plan, and evaluation of the individual’s
had never had a mammogram. Because the purpose for understanding of the cancer etiology in the family. An
KMC’s visit was for a routine health maintenance essen- tial component of this evaluation is an assessment of
examination, a physical examination was to be performed by the indi- vidual’s prior life experiences with cancer and her
KMC’s primary care physician. perception of her own cancer risk. Exploration of the
The APON expanded the previous assessment to determine patient’s coping style and available support system is another
KMC’s understanding about her risk for breast cancer. aspect of a typical can- cer counseling session. The APON/G
KMC reported that her sister’s oncologist told her that she was should also explore how the patient believes she may handle
at an increased risk for breast cancer on the basis of early additional information about her risk for cancer in the
onset of breast cancer in her 2 sisters. KMC was instructed context of her family values. For example, in some families
to begin mammography at age 40 and to perform monthly at risk of breast cancer, the nor- mative family value may be
breast self- examination (BSE), but she was not to pursue genetic testing, and if a mutation is found, women
comfortable with her technique because she often felt at risk may choose to undergo pro- phylactic surgery
breast lumps. (mastectomy and/or oophorectomy). Indi- viduals choosing
KMC indicated that she was not aware of hereditary another option may often experience intense family coercion.
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 member from the proband, the greater the likelihood that the
risk for ovarian cancer. The APON provided KMC and her proband will misidentify the primary cancer diagnosis. The
sister with some basic information about Mendelian family pedigree documents the
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.

⬛ 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

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

⬛ 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.

⬛ 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

The Role of the Nurse in Cancer Cancer Nursing™, Vol. 25, No. 3, 2002 ■
in 10-year increments until age 85, when her risk could be tise in cancer. Given the scope and the uniqueness of each
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.

⬛ 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.

⬛ 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-

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

case/family history, collaborative practice is as important in
cancer genetics as it is in all clinical genetic services.

⬛ 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.

⬛ 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.

⬛ 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.
The Role of the Nurse in Cancer Cancer Nursing™, Vol. 25, No. 3, 2002 ■
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.
⬛ 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.
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
⬛ 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
implications of risk information are clearly understood or
before the best methods

⬛ 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.

⬛ 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

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

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.

⬛ 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.

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

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

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