Wynetta’s Story Consider the following case: Wynetta is a 45-year-old black woman who was diagnosed with breast cancer a t age 3 2 and treated with a lumpectomy and radiotherapy. Six years Iat- er, a tumor was detected in her contralateral breast, and she elected to have both breasts removed before being treated with chemotherapy and radiotherapy. After this second diagnosis, her surgeon asked if anyone else in the family had been diagnosed with cancer. Wynetta listed several rel.itives, including her mother w h o had had ovarian cancer a t agc 46.

The surgeon referred Wynetta to the cancer risk assess- ment clinic for an evaluation to determine whether her fani- ily history was part of a hereditary breast and ovarian can- cer syndrome (see “Gauging Family Risk”).

Unfortunately, Wynetta’s health insurance plan wouldn’t pay for the visits to the cancer risk assessment clinic. Addi- tionally, Wynetta was a single mother raising a disabled child while working toward a college degree. In addition to understanding her own breast cancer concerns, Wynetta also had to decide where cancer risk assessment fit within her list of priorities.

Hereditary Breast and Ovarian Cancer Among American women, breast cancer is the most corn- rnonly diagnosed cancer after non-melanoma skin cancer and is the number t w o cancer killer of women each year, just after lung cancer. Each year, more than 180,000 women in the US. will learn that they have breast cancer, and 44,000 women annually will die from this disease (American Cali- cer Society [ACSI, 2001) .

In some families, breast cancer seems to be passed down through the generations or is inherited. Yet, it’s important for women to understand that some 80 t o 90 percent of all breast cancers are diagnosed in women with no family his- tory of hreast cancer. As such, hereditary cancer represents approximately 5 to 10 percent of all cancer cases diagnosed and may account for about 90,000 new cancer occurrences annually in the U.S. (ACS, 2001) .

One in 8 women (12 percent) w h o live to the age o f 8.5 will develop breast cancer during their lifetime, with the majority of cases occurring after menopause. About 3,000 cases will he diagnosed in women under the age of 30 (ACS, 2001) . What researchers know to date is that the greatest risk factor a woman faces for breast cancer is age, as the development of the disease increases steadily with advancing years. There are also those who question long-term use of

Gauging Family Risk Mat: African-American Pat: American IndidAfrican-American

“Female cancer” (40s) “Opened her up &just closed her” d. 40s

d. 87 heart

d. 93 “old age”

1 I

Ovarian (46) :z I d.47

-

P Wynetta a. 45 Breast (32) Contralateral breast (38)

Breast (72) d. 13 TB

1 d.79

0 Breast z (48)

44 A W H O N N Lifelines Volume 5, Issue 3

estrogens, such as in oral contraceptives and hormone re- placement therapy, although the links are not yet clearly under- stood (DeMasters, 2000). Additionally, there are those who believe that previous breast disease, reproductive and nien- strual history, diet and alcohol intake all affect risk as well.

Ovarian cancer is a relatively uncommon malignancy, but currently more than half of the 27,000 women annually who are diagnosed will die from the disease. Like breast cancer, as women age the risk of ovarian cancer increases: The risk of ovarian cancer before the age of 40 is 0.2 percent, with the greatest risk occurring between the ages of SO and 60, and peak- ing around age 7.5. The overall lifetime risk for women to devel- op ovarian cancer is about 1 in 70 or 1.4 percent (Daly, 1992).

For unknown reasons, ovarian cancer is more common in white women than among other population groups. A family history of ovarian cancer is strongly associated with an increased risk for the disease. There are very few known environ- mental or occupational risks for ovarian cancer. Talc particles found in ovarian tissue led to a study that implicated cos- metic talc, when applied to the genital area, as a risk factor for ovarian cancer (Cramer, 1999).

Talc was previously used by women to pre- serve diaphragms; this may have been its intro- duction to the ovaries. Additionally, studies showed that many talc products were contami- nated with asbestos, a proven carcinogen that is chemically similar to talc. Talc has subsequently been removed from most cosmetic products. Stud- ies that are more recent suggest that the risk from talc may not be as great as was originally thought (Cramer, 1999).

Gauging Disease Risk Inheritance is a possible risk factor for both breast and ovarian cancer risk when an increased num- ber of breast and/or ovar-

ian cancers have occurred in multiple generations within a family. Many hereditary cancer syndromes demonstrate an autosomal dominant inheritance characterized by transmis- sion of cancer predisposition from generation to generation with a chance of SO percent for first-degree relatives to inherit the predisposing genetic alteration. The susceptibili- ty may be inherited through either parent’s side of the fami- ly (see “Typical Features of Hereditary Cancer Syndromes”).

Genetic mutations in the cancer susceptibility genes BRCAl and BRCAZ are believed to be responsible for most forms of hereditary breast and ovarian cancer, but they don’t explain the occurrence of cancer in all families. Mutations in these two genes are rare and account for approximately 7 per- cent of all breast cancer cases and 10 percent of all ovarian cancer cases (Ford et al., 1998). It’s likely that other back- ground genetic factors as well as environmental factors con-

Risks for Breast Cancer Personal history of breast abnormalities: two breast tissue

abnormalities (ductal carcinoma in situ; lobal carcinoma in situ) are associated with increased risk for developing an invasive breast cancer

Age: risk increases with age; the majority of breast cancer cases occur in women older than age SO

Age at menarche: women who had their first menstrual period before age 12 have a slightly increased risk of breast cancer

Breast biopsies: women who have had breast biopsies have an increased risk of breast cancer, especially if the biopsy showed a change in breast tissue known as atypical hyperplasia; these women are a t increased risk because of whatever prompted the biopsies, not because of the biopsies themselves

Age at first live birth: women who had their first full-term pregnancy after age 30 and women who have never borne a child have a greater risk of developing breast cancer; women who have had three or wore children have a 30 to SO percent lower risk of ovarian cancer rel- ative to nulliparous women

Breast cancer among closest relatives: having one or more first-degree blood relatives (sisters, mother, daughter) who have been diagnosed with breast cancer increases a woman’s chances of developing this disease

Race: white women have a greater risk of developing breast cancer than other population groups

Other factors: age a t menopause, dense breast tissue, use of oral contraceptives or hormone replacement therapy, a high-fat diet, alcohol, radiation exposure (excessive radiation exposure, such as treatment for Hodgkin’s dis- ease, does increase risk for cancer) and environmental pollutants (note: evidence that these factors contribute to breadovarian cancer is not conclusive, thus risks caanot be precisely stated in this category)

tribute in an additive way t o the development of most breast and ovarian cancers.

Genetic testing for these mutations is clini- cally available but is only appropriate for a small percentage o f patients. Testing should be offered only after careful counsel- ing regarding the risks, benefits, limitations and how the test results (either positive or nega- tive) will affect how a woman receives treat- ment and care. It’s critical that providers understand that obtaining a true informed consent is the backbone of genetic coun- seling when discussing testing for hereditary breast and ovarian cancer susceptibility genes.

Counseling In 1975, the committee of the American Society of Human Genetics proposed a definition of genetic counseling that empha- sizes the role of communi- cation and emphasized that the counseling process involve appropxi-

June/July 2001 AWHONN Lifelines 45

Typical Features of Hereditary Cancer Syndromes Cancer in two or more closc relatives (on the same

Bilateral cancer in paired organs (i.e., both breasts

0 Multipk primary tumors in same individual Younger age than urpcaed at time of diagnosis Specific constellation of tumors that compose a

Autasomal dominant transmission of cancers (vem-

side of the family)

or ovaries)

known cancer syndrome

cal transmission)

ately trained persons helping families (American Society of Human Genetics, 1975):

comprehend the medical facts including the diagnosis, prob- able course of the disorder and the available management appreciate the way heredity contributes to the disorder and the risk of recurrence in specified relatives understand the alternatives for dealing with the risk of recurrence choose a course of action that seems to them appropriate in view of their risk, their family goals and their ethical and religious standards and act in accordance with that decision make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder

It’s important that when presenting the facts regarding hereditary breast and ovarian cancer, and the options avail- able for screening and surveillance for those who are identi- fied at increased risk, care providers d o so in a neutral man- ner or nondirective fashion. Avoid directing an individual toward a particular decision. Information, ideas, concepts and options must be presented in a balanced fashion so that, ethically, women and their family members make the most appropriate decision for their particular life circumstances.

Genetic counselors strive to avoid directing their clients based on their own personal opinions or feelings regarding what they think a client should or shouldn’t do. Clients need to be helped to identify their personal goals and values M

that they can make decisions in their own best interest. Inherent in this complex proceso is the need to provide ongo- ing support .for the individruls at risk while they work through their psychosocial problem, emotionally adjust to their new risk status and e ~ e n t u d y make their decisions.

One of the most difficult aspects of conducting a genetic counseling session is to arrive a t an outcome that meets the desires and goals of the individual, not those of the genetic counselor, referring care provider or other family members. Every health care professional counseling for hereditary can- cer syndromes should strive for this ideal.

Currently, there are no accepted guidelines on genetic counseling for cancer. The Ethical, Legal, and Social Issues branch of the Human Genome Project is sponsoring clinical investigations to determine how best to conduct the educa- tion and counseling required in genetic testing for inherited cancer risk. Extensive clinical guidelines for genetic counsel- ing have been published by many professional organizations including the American College of Medical Genetics and the National Society of Genetic Counselors (American College of Medical Genetics, 1999; McKinnon et al., 1997).

Despite the continuing debate regarding the characteris- tics of the ideal genetic counselor, it’s apparent that diverse interpersonal skills, extensive knowledge of cancer genetics and a clear understanding of the medical, psychological, social and economic considerations of hereditary cancer syn- dromes must be present. Ideally, good genetic counseling means effectively communicating the genetic facts to the individual while paying close attention to the emotional needs related to her or his reaction to the impact of being a t increased risk for cancer.

One of the most difficult aspects o f conducting a genetic counseling session is to arrive at an outcome that meets the desires and goals of the individual, not those of the genetic counselor, referring care provider or other family members.

Effective Com mu n ication To effectively counsel a woman or her family member regarding cancer, it’s essential to get to know some of her own personal characteristics, such as:

emotional state ’

educational level socioeconomic status religious beliefs cultural values support systems knowledge and attitudes about cancer expectations about genetic counseling

A woman’s emotional status can strongly influence and shape the counseling process. Informal evaluations of a woman’s individual mental state should be made and docu- mented, at least a t the beginning and end of each genetic counseling session. This is particularly important when genetic testing results are being dixlosed.

Psychosocial assessment helpsavoid ignoririg subtle indi- cams of emotional distress that would interfere with com- munication. An observant, empathetic and experienced

46 AWHONN Lifelines Volume 5, Issue 3

counselor should be aware of signs of anxiety, hostility o r depression, which i f ignored might interfere with effective communication.

Educational level directly correlates with the amount of information retained by women advised about the patho- genesis, origin, genetics and surveillance options for heredi- tary breast and ovarian cancer. It might be easy to assume that the more educated a woman is, the better she will be at understanding, processing and assimilating complicated and unfamiliar biological concepts. However, very few people- even well-educated individuals-are comfortable with prob- ability. It’s helpful, then, to use special techniques such as graphs, figures and visual diagrams to communicate these ideas.

Regarding socioeconomic status, it’s important to recog- nize that few people have access to genetic counseling-and often, because of the risks of insurance discrimination, some women opt to pay for such counseling themselves.

Cultural attitudes and practices, like religious values, may influence how a woman responds to a health incidence, as well as how she interprets medical and genetic informa- tion. This is especially vital when modification of tradition- al medical practices may be necessary. Research has shown that if a cultural group stigmatizes cancer, individuals with- in that group are less likely to admit that they, or a family member, have cancer and, therefore, may not seek medical attention.

Many individuals come to a genetic counseling session with preconceived ideas, incorrect information or family

Getting All the Facts National Society of Genetic Counselors:

National Cancer Institutes’ Cancer Genetics Services

www.nsgc.org

Directory: http://cancernet.nci.ni h.gov/pdqfull.html

http://www.abgc.netl

www.geneticalliance.org

www.ovarian.org

www.wcrc.org

www.na bco.org

www.natlbcc.org

www.komen.org

www.cancer.org

American Board of Genetic Counseling:

Genetic Alliance:

National Ovarian Cancer Coalition:

Women’s Cancer Resource Center:

National Alliance of Breast Cancer Organizations:

National Breast Cancer Coalition:

Susan G. Komen Foundation:

American Cancer Society:

myths about cancer-even if they have never been near someone with the disease. These ideas or concepts are often erroneous and should be addressed early in the counseling session so that they can be eliminated and/or corrected. To correct misconceptions, it’s helpful to point them out, while being sensitive to the individual’s cultural, religious and eth- nic beliefs. The counselor should then state clearly what facts are known and what remains unknown about heredi- tary breast and ovarian cancer.

The job of providing comprehensive genetic counseling for hereditary breast and ovarian cancer is a challenging one. The complexities that arise when advising individuals and their families are even greater when cultural differences exist be- tween the counselor and the woman. Special efforts and knowledge are required to ensure that the counseling tech- niques are adapted to special circumstances. All health care providers advising women about their risks of hereditary breast and ovarian cancer must integrate an appreciation o f culture that blends an awareness of history, geography and religion. In addition, counselors should be prepared to assist these patients in selecting options that are “best” for them giv- en their diverse cultural, religious and ethnic backgrounds.

References American Cancer Society. (200 1 ). Cancer facts and figures-

1999. Atlanta, GA: Author. American College of lMedical Genetics. (1 999). Genetic sits-

ceptibility to breast and ovarian cancer: Assessment. counseling and testing guidelines. Bethesda, MD: Author.

American Society of Human Genetics Ad Hoc Committee on Genetic Counseling. ( 1975). Genetic counseling. American ]ournal of Hitman Genetics, 2 7 , 240-242.

Cramer, D. W. (1999). Peritoneal talc exposure and subse- quent epithelial ovarian cancer: A case-control study. Obstetrics and Gynecology, 94( 1 ), 160- 16 1 .

Daly, M. (1992). The epidemiology of ovarian cancer. HematologylOncology Clinics of North America,

DelMasters, J. (2000). HRT and menopause: A clinician’s guide to understanding the dilemma. AWHONN Life- lines, 4 , 27-35.

Ford, D., Easton, D. F., Stratton, M., Narod, S., Goldgar, D., Devilee, P., Bishop, D. T., Weber, B., Lenoir, G., Chang-Claude, J., Sobol, H., Teare, M. D., Struewing, J., Arason, A., Scherneck, S., Peto, J., Rebbeck, T. R., Tonin, P., Neuhausen, S., Barkardottir, R., Eyfjord, J., Lynch, H., Ponder, B. A., Gayther, S. A., Zelada-Hed- man, M., et al. (1998). Genetic heterogeneity and penetrance analysis of the BRCAl and BRCA2 genes in breast cancer families. American Journal of Human Genetics, 62(3), 676-689.

McKinnon, W. C., Baty, B. J., Bennett, R. L., Magee, IM., Neufeld-Kaiser, W. A., Peters, K. F., Sawyer, J. C., & Schneider, K. A. (1997). Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors. ]oztriial of the American Medical Association, 278, 1217- 1220.

6(4), 729-738.

June/July 2007 AWHONN Lifelines 47