Genetic Testing for Breast and Ovarian Cancer: Ethical, Legal, and Psychosocial Considerations

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Mira Lessick, PhD, RN

Genetic Testing for Breast and

Ovarian Cancer

Ethical, Legal, and Psychosocial

Considerations

INTRODUCTIONBreast cancer is the most common cancer and the second lead-

ing cause of cancer-related deaths among women in the United

States (American Cancer Society, 2007). An estimated 240,510

new cases of breast cancer will be diagnosed in 2007, and ap-

proximately 40,460 women will die from the disease (American

Cancer Society). Ovarian cancer ranks second among gyneco-

logic cancers and causes more deaths than any other cancer of

the female reproductive system (American Cancer Society).

BRCA1 AND BRCA2Although most cases of breast and ovarian cancer do not result

from an inherited genetic predisposition, approximately 5 to 10

percent of all cases are due to a single gene mutation that con-

siderably heightens the susceptibility to develop these diseases.

In the 1990s, two major genes associated with susceptibility to

breast and ovarian cancer were identifi ed: BRCA1 (breast can-

cer susceptibility gene 1) and BRCA2 (breast cancer suscepti-

bility gene 2). The BRCA1 gene is located on chromosome 17,

and BRCA2 is located on chromosome 13. Approximately 80 to

90 percent of cases of hereditary breast and ovarian cancers are

caused by mutations in the BRCA1 and BRCA2 genes (Thull &

Vogel, 2004). For women with one of these known mutations,

the lifetime risk of developing breast cancer is in the range of 50

to 87 percent, and the lifetime risk for ovarian cancer is between

15 and 44 percent (Thull & Vogel; Wooster & Weber, 2003).

BRCA1 and BRCA2 function as tumor suppressor genes

that play critical roles in enabling cells to repair DNA when

damaged. Both genes are inherited in an autosomal domi-

nant fashion with incomplete penetrance. That is, carriers of a

BRCA mutation have a 50 percent chance of transmitting the

gene mutation to each offspring, regardless of gender; this is

called autosomal dominant inheritance. However, inheritance

of a BRCA mutation does not guarantee that a particular car-

rier will develop breast or ovarian cancer; this is called incom-

plete penetrance.

BRCA1 and BRCA2 mutations also may be associated with

risk for other cancers (e.g., pancreatic cancer, colon cancer,

prostate cancer for male carriers), but to a smaller degree than

breast and ovarian cancer risk (Thull & Vogel, 2004). Although

these two genes are most common in hereditary breast and

ovarian cancer, it is important to note that there are several

other cancer susceptibility genes that increase risk for breast

and/or ovarian cancer.

GENETIC TESTINGThe clinical availability of genetic testing for hereditary pre-

disposition to breast and ovarian cancer offers at-risk women

the opportunity to obtain information about BRCA mutation

status. Learning that one carries a BRCA mutation potentially

provides individuals with a clearer basis on which to make

392 © 2007, AWHONN http://nwh.awhonn.org

Mira Lessick, PhD, RN, is associate professor in the College of Nursing at the University of Toledo, Toledo, OH. She reports no confl ict of interest or fi nancial relationship relevant to this article.

DOI: 10.1111/j.1751-486X.2007.00204.x

ObjectivesUpon completion of this activity, the learner will be able to:

1. Identify features of BRCA gene mutations associated with hereditary breast and ovarian cancer.

2. Describe potential benefi ts and risks of BRCA genetic testing.

3. Describe ethical, legal and psychosocial implications of BRCA genetic testing.

Continuing Nursing Education (CNE) Credit

A total of 2 contact hours may be earned as CNE credit for reading “Genetic Tesing for Breast and Ovarian Cancer: Ethical, Legal, and Psychosocial Considerations” and for completing an online post-test and evaluation.

To take the test and complete the evaluation, please visit http://JournalsCNE.awhonn.org. Cer-tifi cates of completion will be issued on receipt of the completed evaluation form, application and processing fees. Note: AWHONN contact hour credit does not imply approval or endorsement of any product or program.

AWHONN is accredited as a provider of continu-ing nursing education by the American Nurses Credentialing Center’s Commission on Accredita-tion.

AWHONN also holds California and Alabama BRN numbers: California CNE provider #CEP580 and Alabama #ABNP0058.

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decisions regarding risk management options, which currently

include increased surveillance, prophylactic surgery (mastec-

tomy and/or oophorectomy), and tamoxifen chemoprevention

(Tranin, 2005). The potential benefi ts for noncarriers, whose

risk of developing breast or ovarian cancer is similar to that

of the general population, include relief from persistent worry

and unnecessary risk-reduction interventions.

While genetic testing offers various potential benefi ts, it also

carries potential risks (see Box 1). For example, a true negative

test result (see Box 2) may elicit a false sense of security about

cancer risk or evoke feelings of guilt or alienation if other family

members test positive. A true positive test result may produce a

range of psychological reactions, stress on family relationships,

or uncertainty about unproven risk-reduction options. An in-

conclusive test result (also called uninformative) may lead to

misinterpretation of the test result, continuing uncertainty and

emotional distress (Greco, 2003; Hallowell et al., 2002; Schlich-

Bakker, ten Kroode, & Ausems, 2006). An inconclusive/unin-

formative result may be especially anxiety-inducing, because

a genetic predisposition to cancer cannot be ruled out when

no mutation is identifi ed in the patient and there is no known

mutation in the family.

Risk management options for women who test positive for

BRCA mutations also have potential benefi ts, risks and limi-

tations. Prophylactic surgery has been shown to signifi cantly

reduce the risk of breast cancer and ovarian cancer in BRCA1

and BRCA2 mutation carriers (Hartmann et al., 2001; National

Breast Cancer Coalition, 2006; Rebbeck et al., 2002). However,

prophylactic mastectomy and oophorectomy have psychologi-

cal and physical risks and do not guarantee against developing

cancer, as not all tissue can be removed by these procedures

(Finch et al., 2006). Few studies have tested the effectiveness of

tamoxifen in women with a BRCA mutation. One small study,

for instance, found that tamoxifen signifi cantly reduced breast

cancer incidence in only BRCA2 carriers (King et al., 2001),

while a recent larger study observed a strong protective effect

of tamoxifen among women with a BRCA1 or BRCA2 muta-

tion who were premenopausal or who had undergone natu-

ral menopause (Gronwald et al., 2006). Furthermore, little is

currently known about the effi cacy of surveillance programs

in these high-risk women (National Breast Cancer Coalition;

Robson, 2004).

The application of genetic tests in health care raises com-

plex ethical, legal and psychosocial issues. What follows is an

overview of these issues, which can assist nurses in informing,

August September 2007 Nursing for Women’s Health 393

BOX 1 POTENTIAL BENEFITS AND RISKS OF GENETIC TESTING

POTENTIAL BENEFITS

• Provides an explanation for cancer in the family.

• Decreases uncertainty and doubt.

• If true positive test results, permits early detection and risk-reduction strategies.

• If true negative test results, provides relief from persistent worry and unnecessary risk-reduction interventions.

• Provides ability to plan and prepare for the future.

• Provides information to other at-risk family members.

• Can result in improved survival and reduced health care costs with early detection of cancer.

POTENTIAL RISKS

If True Positive Test Results:

• Anxiety, depression, anger, fear, guilt

• Stress on family relationships

• Worry over possible insurance or employment discrimination

• Uncertainty about unproven risk-reduction options

If True Negative Test Results:

• False sense of security about cancer risk

• Feelings of guilt or alienation if other family members test positive

If Inconclusive/Uninformative Test Results:

• Uncertainty related to decision-making for risk-reduction interventions

• Misinterpretation of test result

• Cancer worry, anxiety, powerlessness

• Confusion about the cause of cancers in the patient’s family

Approximately 80 to 90 percent of cases of hereditary breast

and ovarian cancers are caused by mutations in the BRCA1 and BRCA2 genes.

supporting and advocating for women and families who are

considering, or plan to undergo, genetic testing for breast and/

or ovarian cancer susceptibility.

ETHICAL AND LEGAL ISSUESGenetic information differs from other types of medical

knowledge, because it is predictive and probabilistic in nature

and has implications for the entire family. Ethical and legal is-

sues involved in breast cancer susceptibility testing are gener-

ally applicable to genetic testing for a range of other disorders.

Important issues that challenge nurses and other health care

providers include informed consent, autonomy, privacy and

confi dentiality, disclosure and non-disclosure, and genetic dis-

crimination.

Informed ConsentInformed consent is an absolute prerequisite for any type of ge-

netic testing. The ethical principle of autonomy forms the ba-

sis of informed consent, a process needed for protection of an

individual’s freedom and right of choice (Lowrey, 2004). The

process of informed consent is a critical component of pretest

genetic counseling. To make an informed autonomous decision,

a woman considering BRCA testing must have accurate com-

prehensible information about all aspects involved in testing,

including potential risks, benefi ts and implications of the test.

The American Society of Clinical Oncology (ASCO, 2003) pol-

icy statement update on genetic testing for cancer susceptibility

outlines the basic elements of informed consent (see Box 3).

Individuals should understand that they have a right to ac-

cept or decline genetic testing, and this decision must be free

from coercive infl uences and based on the person’s values and

beliefs (Harris, Winship, & Spriggs, 2005). The right of choice

also applies to the results of genetic testing, and each person is

entitled to obtain the results or not to.

While some individuals are eager to have testing to learn

about the future risk of cancer for themselves and their chil-

dren, others may decline testing if they have concerns about

unproven options to prevent disease, believe the information

provided would be a burden, or feel emotionally unprepared to

cope with the consequences of testing (Lodder et al., 2003). In

addition, some people not only decline testing but do not want

to know their family history or cancer risk at all for various

reasons, such as avoidance of emotional distress and fears of

stigmatization and discrimination (Harris et al., 2005).

Nurses are expected to actively participate in the process of

informed consent relevant to genetic testing. Nursing actions

in this process may include ensuring that written consent is ob-

tained before testing; serving as a patient advocate; assisting in

providing education about testing; providing ample opportu-

nity for the individual to ask questions and address concerns;

and ensuring that the person’s autonomy is protected in mak-

ing testing decisions.

Privacy and Confi dentialityPrivacy and confi dentiality are of utmost importance in genetic

testing, because they imply the assumption of nondisclosure of

a person’s genetic test results to others. Some women may be

reluctant to undergo breast cancer susceptibility testing out of

concern that the privacy of this information may not or cannot

be ensured. Respect for privacy of genetic information requires

that health care providers do not disclose genetic testing data to

anyone without the consent of the tested individual.

A top priority for nurses and other health care professionals

should be the reduction of the risk of unintended disclosure

of patients’ genetic testing information. Patients have a right

to know where their genetic test results will be stored and

whether there is a separate fi le kept for such sensitive information

394 Nursing for Women’s Health Volume 11 Issue 4

BOX 2 TYPES OF TEST RESULTS

TRUE POSITIVE: This result indicates that a deleterious germline mutation in BRCA1 or BRCA2 has been identi-fi ed, which places the person at increased risk for developing breast or ovarian cancer.

TRUE NEGATIVE: This result is found when there is a known BRCA mutation in the family, but the tested person does not have the known mutation.

INCONCLUSIVE OR UNINFORMATIVE: This result indicates that no mutation is identifi ed in the tested person and there is no known mutation in the family. A test result is also considered uninformative in those situations in which a genetic variant of unknown signifi cance is found.

Learning that one carries a BRCA mutation potentially provides

individuals with a clearer basis on which to make decisions regarding risk

management options.

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honn.org reported to worry about disclosing their test results to parents

in view of not wanting them to feel guilty about transmitting

the mutation (D’Agincourt-Canning, 2001). Other studies have

found the following: that older women are less likely to share

their BRCA test results with their parents than are younger

women; that female relatives are informed of test results more

frequently than are male relatives; and that an inconclusive test

result is generally reported less frequently within the family

than are conclusive (positive or true negative) results (Gadz-

icki et al., 2006; Patenaude et al., 2006). There is also evidence

that non-carriers are less likely to inform distant relatives of

their BRCA test result than are carriers (Wagner-Costalas et

al., 2003) and that they delay disclosing their favorable results

to relatives who are identifi ed as carriers or currently have

cancer (Foster, Eeles, Ardern-Jones, Moynihan, & Watson,

2004).

Health care providers may face an ethical dilemma if patients

refuse to disclose genetic information to at-risk relatives (see

Box 4). This non-disclosure brings the issue of confi dentiality

into confl ict with the ethical principle of preventing harm (En-

senauer, Michels, & Reinke, 2005). Opinions in the United States

do not support the professional disclosure of familial genetic

information without the patient’s permission, unless the likeli-

hood of serious harm exists (Clayton, 2003; Harris et al., 2005).

Genetic DiscriminationA potential drawback of genetic testing is the perception that

individuals with an inherited susceptibility to cancer may face

insurance and/or employment discrimination. Fear of dis-

crimination is one of the most common reasons identifi ed by

women for declining BRCA genetic testing (Armstrong et al.,

2000, 2003; Peterson, Milliron, Lewis, Gould, & Merajver, 2002).

Genetic discrimination refers to the less favorable or adverse

treatment that an individual without signs or symptoms of a

disease receives based on his or her genotype/genetic charac-

teristics (Harris et al., 2005). Asymptomatic women who carry

a BRCA mutation may have concerns that knowledge of their

genetic test information by insurance companies or employers

could result in higher insurance premiums, cancellation or de-

nial of coverage, or loss of job opportunities.

In light of the fear of genetic discrimination, maintenance

of confi dentiality of individuals’ medical information is es-

sential. Published accounts of genetic discrimination emerged

in the 1990s, following launch of the Human Genome Project

(Greely, 2005). Although studies have found widespread con-

cern about genetic discrimination among genetics professionals

and patients (Hall & Rich, 2000; Matloff et al., 2000; Peterson

et al., 2002), there are few actual examples of it and no evidence

that it is common (Hall & Rich). Systematic documentation of

third-party practices and policies regarding genetic discrimina-

tion is also diffi cult to document (Otlowski, Taylor, & Barlow-

Stewart, 2003).


(Sadler, Wasserman, Fullerton, & Romero, 2004). Notation of

the test results should not be recorded in the medical records,

where there is the possibility of accidental disclosure when

records, are copied for other purposes (Sadler et al., 2004). The

right to privacy and confi dentiality of genetic testing informa-

tion may not be an option when the woman’s insurance carrier

pays for the testing services.

Disclosure of Information to Family MembersWhen family-specifi c mutations are identifi ed, individuals are

strongly encouraged to share results with other at-risk relatives

to facilitate predictive testing, especially when risk-reduction

measures are available, such as for hereditary breast and ovar-

ian cancer (Harris et al., 2005). However, disclosing one’s ge-

netic information to family members may be burdensome for

some people. A common theme observed in one study of the

impact of genetic testing on women at increased risk for hered-

itary breast cancer was the diffi culty associated with divulging

a test result to relatives (Lim et al., 2004).

Individuals who carry a BRCA mutation as well as those

who have a true negative or an uninformative test result may

experience problems in disclosing genetic information. For

instance, BRCA1 and BRCA2 mutation carriers have been

BOX 3 BASIC ELEMENTS OF INFORMED CONSENT

• Information on the specifi c test (e.g., purpose of the test)

• Implications of a positive and negative test result

• Possibility that test results will not be informative

• Options for risk estimation without genetic testing

• Risk of passing a mutation to children

• Options and limitations of medical surveillance and risk-reduction strategies following testing

• Psychological implications of test results (benefi ts and risks)

• Risks of insurance or employer discrimination

• Confi dentiality issues

• Importance of sharing genetic test results with at-risk relatives

• Technical accuracy of the test

• Fees involved in testing and counseling

Source: Adapted from ASCO (2003).


Several existing federal laws provide some degree of pro-

tection against genetic discrimination (see Box 5). In addi-

tion, proposed current legislation—the Genetic Information

Nondiscrimination Act of 2007 (GINA)—was introduced in

the 110th Congress in both the U.S. Senate and House of Rep-

resentatives in January, 2007 (Anonymous, 2007; Genetic Alli-

ance, 2007). This Act has been unanimously passed twice by the

Senate in recent years, but not by the House of Representatives.

If passed, this legislation will prohibit genetic discrimination

by all health insurance providers and employers based on an

individual’s inherited susceptibility to disease, including can-

cer. More than 40 states in the United States also have laws that

ban health insurance discrimination on the basis of genetic test

results or information, and more than 30 states ban or limit ge-

netic discrimination in employment (Greely, 2005; Harris et al.,

2005). However, defi nitions, coverage, and enforcement mecha-

nisms vary signifi cantly from state to state. Many of the leg-

islative protections against genetic discrimination do not help

self-insured individuals who are not covered by a group plan.

Psychosocial ConsiderationsFor the woman considering BRCA genetic testing, an impor-

tant area for the nurse to explore with her is the potential

impact that testing may have personally and on other family

members, as well as her relationships with those family mem-

bers. BRCA testing and learning one’s mutation status can elicit

feelings and reactions that affect family relationships, decisions

about childbearing, perception of body image, self-esteem, and

quality of life (Ensenauer et al., 2005; Hutson, 2003). Women

with positive genetic test results may experience a wide range

of emotions such as anxiety, depression, fear, anger, or psycho-

logical distress (Hutson). Family members may also develop

different ways of coping with inherited susceptibility to cancer

and disclosure of risk status.

Confl icts within a family can occur if an individual who has

been tested does not want to reveal results to other relatives

who wish to learn of their cancer risk, or if knowledge of an

inherited predisposition to cancer in the family is offered to

those relatives who prefer to avoid such knowledge. Emotional

divisions can also arise when mutation status is known, such

as in the case of a mother and one sister who have a BRCA2

mutation and another sister who does not (Sadler et al., 2004).

Furthermore, families may develop particular patterns for deal-

ing with cancer risk, such as pressuring a female relative with a

BRCA1 mutation to undergo prophylactic surgery.

Knowledge of one’s personal cancer risk can affect people

in different ways. Women who are already clinically affected

with breast cancer might be distressed to learn they have an

increased risk for additional cancers. Individuals may also

have feelings of guilt regardless of their mutation status. BRCA

mutation carriers may experience “transmitter guilt” for pos-

sibly passing on the genetically increased cancer risk to their

children, and noncarriers may experience “survivor guilt” for

being among those family members who did not inherit the ge-

netic mutation. Women may also experience regret about their

choice of risk management options (Swisher, Babb, Whelan,

Mutch, & Rader, 2001). Furthermore, postoperative compli-

cations, altered body image, negative perception of the sexual

relationship, and psychological distress are examples of adverse

outcomes reported by some women following prophylactic

surgery (Bleiker, Hahn, & Aaronson, 2003; Bresser et al., 2006;

Fry, Busby-Earle, Rush, & Cull, 2001; Hallowell, Mackay, Rich-

ards, Gore, & Jacobs, 2004).

Nurses can help prepare patients for the possible psycho-

social consequences of genetic testing. Prior to making a deci-

sion about whether or not to proceed with testing, the nurse

can explore whether the woman has discussed the option of

genetic testing with other members of her family who might

be affected by the test results, and whether she has considered

if and how the results will be shared among relatives (ASCO,

2003; Sadler et al., 2004). The needs and wishes of other fam-

ily members to receive genetic test information should also be

carefully examined.

A top priority for nurses and other health care professionals should be the reduction

of the risk of unintended disclosure of patients’ genetic testing information.

BOX 4 OBSTACLES TO DISCLOSURE OF TEST RESULTS TO FAMILY MEMBERS

Desire not to cause worry or anxiety

Belief that family members could not cope with the information

Denial

Diffi cult relationships with family members

Assumptions that the information is irrelevant

Belief that it might be better not to know

Absence of contact with relatives

Lack of interest

Fears of genetic discrimination

Source: Harris, Winship, & Spriggs (2005).

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To tailor individualized care to women who are contemplat-

ing, or who have already undergone, breast cancer susceptibil-

ity testing, nurses should actively listen to patient concerns and

ask questions that probe into their emotions and expectations

(see Box 6) (Hutson, 2003). As part of the pretest decision-

making process, patients should be encouraged to discuss their

thoughts and anticipated responses to possible outcomes, such

as a positive test result and a negative result. Nurses have an im-

portant role in providing ongoing psychological support and

in helping women cope with the consequences of their testing

decisions. Accordingly, nursing actions must refl ect sensitiv-

ity to ethnic/cultural, social, and educational differences that

infl uence response to testing and illness, and include assisting

patients to gain access to psychosocial support resources.

CONCLUSIONThe discovery of the breast cancer genes BRCA1 and BRCA2

has afforded at-risk women the option of genetic testing, and

provided the means to increase understanding of the biology of

breast cancer and to explore novel therapeutic and preventive

strategies. Testing for BRCA gene mutations provides informa-

tion not only for the individual but for other family members

as well. The use of this information extends beyond the medi-

cal sphere to a diverse set of ethical, legal, psychological and

social issues that represent challenges to health care providers

and patients alike. The integration of genetic testing into clini-

cal care requires that providers are knowledgeable about these

issues in order to minimize risk for harm and protect the rights

of individuals and families.

Nurses who practice in women’s health care settings can

make an important difference in the lives of patients who are

considering, or plan to undergo, genetic testing for hereditary

breast and/or ovarian cancer. Nurses can support women and

families by helping them understand information regarding

the implications and complexities of genetic testing and by ad-

dressing issues relevant to the management of genetic infor-

mation. This includes ensuring autonomy in making informed

decisions; advocating for privacy, confi dentiality and nondis-

crimination; and providing sources of psychosocial support. To

effectively meet the challenges associated with the application

of genomic technology in health care, nurses must stay abreast

of the expanding body of knowledge about genetic testing and

the many ways in which it can infl uence people’s health and

well-being. NWH

REFERENCESAmerican Cancer Society. (2007). Cancer Facts and Figures 2007.

Atlanta, GA: Author.

American Society of Clinical Oncology. (2003). American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. Journal of Clinical Oncology, 21, 2397–2406.

Anonymous. (2007). GINA, aGAIN [editorial]. Nature Genetics, 39(2), 133.

Armstrong, K., Calzone, K., Stopfer, J., Fitzgerald, G., Coyne, J., & Weber, B. (2000). Factors associated with decisions about clinical BRCA1/2 testing. CancerEpidemiology Biomarkers & Prevention, 9, 1251–1254.

Armstrong, K., Weber, B., FitzGerald, G., Hershey, J., Pauly, M., Lemaire, J., et al. (2003). Life insurance and breast cancer risk assessment: Adverse selection, genetic testing decisions, and dis-crimination. American Journal of Medical Genetics, Part A, 120, 359–364.

BOX 5 FEDERAL NONDISCRIMINATION LAWS AND STANDARDS

AMERICANS WITH DISABILITIES ACT (ADA): Prohibits discrimination based on disability. Although genetic information is not specifi cally addressed, the ADA provides some protection against disability-related genetic discrimination.

HEALTH INSURANCE PORTABILITY AND ACCOUNTABILITY ACT (HIPAA): Prohibits group health insurers from using genetic information to exclude individuals from coverage or charge more for the same services. Ge-netic information in the absence of a current diagnosis cannot be considered a preexisting condition by insurers.

HIPAA NATIONAL STANDARDS TO PROTECT PATIENTS’ PERSONAL MEDICAL RECORDS: Restricts noncon-sensual use of health information, which includes genetic information. The improper use or disclosure of health information has criminal and civil penalties.

EMPLOYEE RETIREMENT INCOME SECURITY ACT: Prohibits employers from discriminating against current employees on the basis of their existing or projected health care expenses.

TITLE VII OF THE CIVIL RIGHTS ACT: Protects against workplace discrimination if there is an ethical or racial connection to a genetic trait.

Sources: Biedrzycki (2005); Greely (2005).


Biedrzycki, B. (2005). Genetic discrimination: It could happen to you. ONS News/Oncology Nursing Society, 20, 8–9.

Bleiker, E., Hahn, D., & Aaronson, N. (2003). Psychosocial issues in cancer genetics: Current status and future directions. Acta Onco-logica, 42, 276–286.

Bresser, P., Seynaeve, C., Van Gool, A., Brekelmans, C., Meijers-Heijboer, H., van Geel, A., et al. (2006). Satisfaction with prophy-lactic mastectomy and breast reconstruction in genetically predis-posed women. Plastic and Reconstructive Surgery, 117, 1675–1682.

Clayton, E. (2003). Ethical, legal, and social implications of genomic medicine. New England Journal of Medicine, 349, 562–569.

D’Agincourt-Canning, L. (2001). Experiences of genetic risk: Dis-closure and the gendering of responsibility. Bioethics, 15, 231.

Ensenauer, R., Michels, V., & Reinke, S. (2005). Genetic testing: Practical, ethical, and counseling considerations. Mayo Clinic Proceedings, 80, 63–73.

Finch, A., Beiner, M., Lubinski, J., Lynch, H., Moller, P., Rosen, B., et al. (2006). Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation. JAMA, 296, 185–192.

Foster, C., Eeles, R., Ardern-Jones, A., Moynihan, C., & Watson, M. (2004). Juggling roles and expectations: Dilemmas faced by women talking to relatives about cancer and genetic testing. Psychology & Health, 19, 439–455.

Fry, A., Busby-Earle, C., Rush, R., & Cull, A. (2001). Prophylac-tic oophorectomy versus screening: Psychosocial outcomes in women at increased risk of ovarian cancer. Psycho-Oncology, 10, 231–241.

Gadzicki, D., Wingen, L., Teige, B., Horn, D., Bosse, K., Kreuz, F., et al. (2006). Communicating BRCA1 and BRCA2 genetic test results. Journal of Clinical Oncology, 24, 2969–2970.

Genetic Alliance. (2007). Genetic Information Nondiscrimination Act (H.R. 493, S. 358). Retrieved March 26, 2007, from http://www.geneticalliance.org/

Greely, H. (2005). Banning genetic discrimination. New England Journal of Medicine, 353, 865–867.

Greco, K. (2003). How to provide genetic counseling and educa-tion. In A. Tranin, A. Masny, & J. Jenkins (Eds.). Genetics in On-cology Practice: Cancer Risk Assessment. Pittsburgh, PA: Oncology Nursing Society, pp. 189–224.

Gronwald, J., Tung, N., Foulkes, W., Offi t, K., Gershoni, R., Daly, M., et al. (2006). Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update. International Journal of Cancer, 118, 2281–2284.

Hall, M., & Rich, S. (2000). Laws restricting health insurers’ use of genetic information: Impact on genetic discrimination. Ameri-can Journal of Human Genetics, 66, 293–307.

Hallowell, N., Foster, C., Ardern-Jones, A., Eeles, R., Murday, V., & Watson, M. (2002). Genetic testing for women previously diagnosed with breast/ovarian cancer: Examining the impact of BRCA1 and BRCA2 mutation screening. Genetic Testing, 6, 79–87.

Hallowell, N., Mackay, J., Richards, M., Gore, M., & Jacobs, I. (2004). High-risk premenopausal women’s experiences of un-dergoing prophylactic oophorectomy: A descriptive study. Genetic Testing, 8, 148–156.

Harris, M., Winship, I., & Spriggs, M. (2005). Controversies and ethical issues in cancer-genetics clinics. Lancet Oncology, 6(5), 301–310.

Hartmann, L., Sellers, T., Schaid, D., Frank, T., Soderberg, C., Sitta, D., et al. (2001). Effi cacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. Journal of the National Cancer Institute, 93, 1633–1637.

Hutson, S. (2003). Attitudes and psychological impact of genetic testing, genetic counseling, and breast cancer risk assessment among women at increased risk. Oncology Nursing Forum, 30, 241–246.

King, M., Wieand, S., Hale, K., Lee, M., Walsh, T., Owens, K., et al. (2001). Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Sur-gical Adjuvant Breast and Bowel Project (NSABP-PI) Breast Cancer Prevention Trial. JAMA, 286, 2251–2256.

Lim, J., Macluran, M., Price, M., Bennett, B., Butow, P., and the kConFab Psychosocial Group. (2004). Short- and long-term im-pact of receiving genetic mutation results in women at increased risk for hereditary breast cancer. Journal of Genetic Counseling, 13, 115–133.

BOX 6 POINTS TO CONSIDER IN PSYCHOSOCIAL ASSESSMENT

What is the patient’s perception of her cancer risk?

How well does the patient understand genetic information?

What are the patient’s reasons for and expecta-tions about testing?

How does the patient expect to use the informa-tion gained from testing?

What is the patient’s understanding of how the test results will affect her and other family members?

What is the patient’s past experiences with cancer?

Does the patient have a history of anxiety or depression?

What is the patient’s present emotional state?

Are there life stressors that may affect the pa-tient’s ability to cope with risk information?

What coping strategies does the patient use to deal with cancer risk and other life stressors?

Does the patient use self-implemented coping strategies, such as exercise, relaxation, and meditation?

Does the patient have access to social and professional supports?

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Lodder, L., Frets, P., Trijsburg, R., Klijn, J., Seynaeve, C., Tilanus, M., et al. (2003). Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic test-ing. American Journal of Medical Genetics, Part A, 119, 266–272.

Lowrey, K. (2004). Legal and ethical issues in cancer genetics nurs-ing. Seminars in Oncology Nursing, 20, 203–208.

Matloff, E., Shappell, H., Brierley, K., Bernhardt, B., McKinnon, W., & Peshkin, B. (2000). What would you do? Specialists’ perspec-tives on cancer genetic testing, prophylactic surgery, and insur-ance discrimination. Journal of Clinical Oncology, 18, 2484–2492.

National Breast Cancer Coalition. (2006). Position statement on ge-netic testing for inherited predisposition to breast cancer: Updated April 2006. Retrieved October 12, 2006, from http://www.natl-bcc.org/

Otlowski, M., Taylor, S., & Barlow-Stewart, K. (2003). Genetic dis-crimination: Too few data. European Journal of Human Genetics, 11, 1–2.

Patenaude, A., Dorval, M., DiGianni, L., Schneider, K., Chittenden, A., & Garber, J. (2006). Sharing BRCA1/2 test results with fi rst-degree relatives: Factors predicting who women tell. Journal of Clinical Oncology, 24, 700–706.

Peterson, E., Milliron, K., Lewis, K., Goold, S., & Merajver, S. (2002). Health insurance and discrimination concerns and BRCA1/2 testing in a clinic population. Cancer Epidemiology Biomarkers & Prevention, 11, 79–87.

Rebbeck, T., Lynch, H., Neuhausen, S., Narod, S., Van’t Veer, L., Garber, J., et al. (2002). Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. New England Journal of Medicine, 346, 1616–1622.

Robson, M. (2004). Breast cancer surveillance in women with he-reditary risk due to BRCA1 or BRCA2 mutations. Clinical Breast Cancer, 5, 260–268.

Sadler, G., Wasserman, L., Fullerton, J., & Romero, M. (2004). Supporting patients through genetic screening for cancer risk. MEDSURG Nursing, 13, 233–246.

Schlich-Bakker, K., ten Kroode, H., & Ausems, M. (2006). A lit-erature review of the psychological impact of genetic testing on breast cancer patients. Patient Education and Counseling, 62, 13–20.

Swisher, E., Babb, S., Whelan, A., Mutch, D., & Rader, J. (2001). Prophylactic oophorectomy and ovarian cancer surveillance: Patient perceptions and satisfaction. Journal of Reproductive Medicine, 46, 87–94.

Thull, D., & Vogel, V. (2004). Recognition and management of hereditary breast cancer syndromes. The Oncologist, 9, 13–24.

Tranin, A. (2005). Hereditary breast and ovarian cancer: Providing personalized medicine. AWHONN Lifelines, 9, 372–376.

Wagner-Costalas, J., Itzen, M., Malick, J., Babb, J., Bove, B., Godwin, A., et al. (2003). Communication of BRCA1 and BRCA2 results to at-risk relatives: A cancer risk assessment program’s experi-ence. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 119, 11–18.

Wooster, R., & Weber, B. (2003). Breast and ovarian cancer. New England Journal of Medicine, 348, 2339–2347.

Get the Facts

To learn more about genetic testing and about breast and ovarian cancer, visit the following sites:

American Cancer Society

http://www.cancer.org

Centers for Disease Control and Prevention

http://www.cdc.gov

FORCE: Facing Our Risk of Cancer Empowered

http://www.facingourrisk.org

Medline Plus: Genetic Testing

http://www.nlm.nih.gov/medlineplus/genetictesting.html

National Cancer Institute

http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA


Post-Test QuestionsInstructions: To receive contact hours for this learning activity, please complete the online post-test and evaluation at http://JournalsCNE.awhonn.org. CNE for this activity is available online only; written tests submitted to AWHONN will not be accepted.

1. The proportion of cases of hereditary breast and ovar-ian cancer caused by BRCA1 and BRCA2 mutations is:

a. 5 to 10 percent

b. 15 to 25 percent

c. 80 to 90 percent

2. A woman contemplating BRCA testing has raised concern about insurance genetic discrimination. The nurse would base advice on his/her understand-ing that:

a. Genetic discrimination by insurance companies is a myth.

b. HIPAA regulations have negated the need for genetic-specifi c legislation nationwide.

c. Many states have passed laws prohibiting genetic discrimination with regard to health insurance.

3. A potential risk of genetic testing for breast/ovarian cancer susceptibility is that:

a. A negative test result may produce a false sense of security about cancer risk.

b. No interventions have been shown to benefi t women who test positive for a BRCA mutation.

c. An inconclusive test result confers a 35 percent lifetime risk for breast cancer because there is an unknown mutation in the patient’s family.

4. In respecting patient privacy in genetic testing, the nurse would take the following action:

a. Do not disclose genetic test information to anyone without the written consent of the tested individual.

b. Inform the patient that all states have laws regarding genetic privacy.

c. Record genetic test results on a separate form in the patient’s medical record.

5. Features of BRCA1 and BRCA2 gene mutations as-sociated with hereditary breast and ovarian cancer include the following:

a. Penetrance of these mutations is incomplete.

b. They have an autosomal recessive pattern of inheritance.

c. They increase the risk for renal cell cancer.

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6. A woman who carries a BRCA1 mutation has a:

a. 12 percent lifetime risk of developing pancreatic cancer

b. 15 to 44 percent lifetime risk of developing ovar-ian cancer

c. 25 to 45 percent lifetime risk of developing pri-mary breast cancer by age 60

7. When a BRCA mutation is identifi ed in a patient, it is recommended that health care providers do what?

a. Disclose the patient’s test result to all at-risk relatives

b. Discuss the need for the patient to have a repeat test

c. Encourage the patient to share test results with other at-risk relatives

8. In helping to prepare a patient for the possible psychosocial consequences of genetic testing, the nurse is aware that:

a. Individuals may have feelings of guilt regardless of their mutation status.

b. Mutation carriers often tend to mistrust the health care provider regarding the privacy of their genetic information.

c. Noncarriers typically have persistent feelings of doubt about the test’s accuracy.

9. An element of informed consent for cancer suscepti-bility testing includes information about:

a. The age when cancer would likely develop if a mutation is detected.

b. The number of relatives in the patient’s family that would also be at increased cancer risk if a mutation is detected.

c. The possibility that test results will not be informative.

10. The Health Insurance Portability and Accountability Act is a federal law that states the following:

a. Genetic information cannot be considered a preexisting condition in the absence of a clinical diagnosis.

b. Protection against insurance genetic discrimina-tion is extended to all individuals not covered by group health plans discrimination.

c. The disclosure of an individual’s health infor-mation, including genetic information, to third parties is subject to criminal and civil penalties.

11. An unaffected 35-year-old female patient recently had BRCA testing because of a positive family history (her mother was diagnosed with breast cancer at age 52; one sister was diagnosed at age 44. Neither her mother nor her sister had tested positive previously). Since no known mutation was detected in the patient, her test result would be considered:

a. False negative

b. Inconclusive

c. True negative

12. A woman who carries a BRCA2 mutation has a 15-year-old son. The chance that the son inherited the BRCA2 mutation and the associated cancer risk is:

a. 0 percent

b. 25 percent

c. 50 percent

13. In discussing options for managing breast cancer risk with a BRCA mutation carrier, the nurse would assess the person’s understanding that:

a. Increased surveillance is associated with a 70 to 85 percent reduction in breast cancer mortality.

b. Prophylactic surgery does not guarantee against developing cancer

c. Tamoxifen is the most effective treatment for preventing primary breast cancer in mutation carriers

14. If a female patient tests negative for a known BRCA1 mutation in the family, the patient’s risk of develop-ing breast/ovarian cancer would be:

a. Higher than the general population risk

b. Negligible

c. Similar to the general population risk

15. In the process of obtaining informed consent for breast cancer susceptibility testing, an important action of the nurse is to:

a. Ensure that a person’s autonomy is protected in making testing decisions

b. Ensure that the privacy of a person’s genetic test information is maintained

c. Obtain information about the cancer status of living relatives in the person’s family

Documents

Genetic Testing for Breast and Ovarian Cancer: Ethical, Legal, and Psychosocial Considerations