Women's decisions regarding management of breast cancer risk. (Research for Practice).
Commercial testing to screen for BRCA gene mutations has been available since 1996, and there are several potential benefits of testing. Benefits include initiating risk reduction and early-detection strategies for women at hereditary risk, and sparing women who are not above the general population risk from unnecessary, costly, and potentially anxiety-producing interventions. As a result of the availability of cancer predisposition genetic testing, the number of self and provider referrals for evaluating breast and ovarian cancer risk is increasing. As appropriate, cancer risk counseling incorporates empiric and genetic test data to assess the probability of developing an initial or additional cancer. Professional health care organizations, genetic support groups, and consumer advocates strongly recommend that genetic counseling by a clinician skilled in cancer risk counseling precede genetic testing (American Society of Clinical Oncology, 1996; ASHG/ACMG 1995; International Society of Nurses in Genetics, 2000; McKinnon et al., 1997; Oncology Nursing Society, 2000). As part of genetic cancer risk assessment (GCRA), various risk management strategies are discussed. These options include screening, chemoprevention, and prophylactic surgery. In addition, the counseling process should incorporate attention to the psychological implications of hereditary cancer, such as passing on a disease-associated gene to children, and effects on family relationships. Since genetic counseling and testing related to cancer risk is now being used as a diagnostic, prognostic, and treatment-guiding tool, it is essential for nurses to understand the needs, beliefs, and values of women who undergo GCRA (MacDonald, 1997; 1998). The following pilot study explored these factors and their meaning for one group of women.
Adult women with a personal or family history of breast or ovarian cancer who were scheduled for an initial GCRA appointment at a major research medical center were eligible to participate in the study designed to better understand and meet the needs of future patients. The study design and instruments are described in depth elsewhere (MacDonald et al., 2002). To summarize, study participation consisted of answering a one-time pre-GCRA questionnaire. Space was provided throughout the questionnaire for open-ended comments. Consecutive study-eligible women were sent the study description, questionnaire, consent form, and a self-addressed stamped envelope to return the study materials. Women who returned the completed questionnaire and consent form prior to the initial GCRA appointment were enrolled in the study and assigned a unique study ID number. Recruitment began in June 1998 and continued until the sample size (n=50) was met in July 1999.
Personal and family cancer history, and data about risk factors related to breast and ovarian cancer, were collected. Two comparable versions of the questionnaire (affected or unaffected) were used as appropriate. For breast cancer risk management, women were asked nine questions regarding what they might be willing to do if the risk for the disease was determined by a genetic test to be greater than 50%. Three additional questions asked women to rank their preferences for managing breast cancer risk.
Nearly all participants (46) were referred for risk assessment by a physician. Participants consisted of 27 women treated for breast or ovarian cancer and 23 unaffected women with a family history of either cancer. About 80% of the women were Caucasian, with the remainder composed of Asian, Hispanic, and African-American females. In the unaffected group, five women were of Jewish descent. This information is important to know for genetic testing because certain BRCA gene mutations are associated with this heritage. The unaffected women ranged in age from 26 to 65 years (mean age 41 years). Of the subjects, none had ever had a breast biopsy, three had a prior mammogram, four reported using oral contraceptives, three had breastfed, one was evaluated for infertility, and one reported use of hormone replacement.
Seventeen women had at least one sister or mother with breast cancer including one participant whose mother had both breast and ovarian cancer. Two women had a mother with ovarian cancer and no family history of breast cancer. Four women had a family history of both breast and ovarian cancer (see Table 1).
Perceptions of Risk Status And Management
The women were asked about their perceptions regarding their risk status and management strategies. On average, women reported that they believed their risk for breast cancer to be triple that for the general population, which they overestimated. Furthermore, they believed their personal risk was nearly the same in the next 10 years as it was over their lifetime. Nearly 70% of the women thought that they were likely to have a genetic predisposition to breast cancer. Fifty-two percent of the women relayed that thoughts about cancer sometimes concerned them, with nearly 30% reporting feeling concerned "all the time." None of the women noted disruptions in daily life functioning.
Women were asked what steps they thought they might be willing to take to address breast or ovarian cancer risk if genetic testing determined that they were at more than 50% risk (MacDonald et al., 2002). Nine risk management questions addressed screening, chemoprevention, and surgical prophylaxis. Women were also asked to describe in their own words any other means they would use to manage cancer risk.
The most frequently selected screening strategy was closer followup. Only one woman was unsure if she would be willing to practice monthly breast self-examinations. All of the women were willing to have clinical breast examinations 2 or 3 times a year, as well as yearly mammograms beginning in their 30s. Nearly 75% would pay for office visits or mammograms not paid for by insurance. Slightly more than 75% would take a hormonal medication to reduce breast cancer risk as long as there were no serious associated side effects. The women were much less likely to take this medication if it acted as a contraceptive or induced menopause. Forty percent of the women expressed acceptance of bilateral mastectomy as a preventive measure, even though the women were told that this intervention may not prevent the disease in genetically predisposed women. The remaining 60% of the women were equally divided between being unsure and definitely would not consider this surgical intervention. When asked about informing family members about cancer risk, 83% believed they should do so and 17% did not. The majority had discussed cancer risk with at least one relative and were most comfortable doing so with their spouse and mothers.
Three of the seven participants (43%) who underwent testing had a BRCA gene mutation, including a niece of another participant who carried a mutation (see Table 2). Mutations were identified in two of the five women tested for the three founder mutations associated with Jewish heritage. One woman who tested negative for the founder mutations proceeded with full gene sequencing and no abnormality was identified. She later developed ovarian cancer (the family history was significant for her mother having died of the disease). Another woman, found to carry the mutation previously determined to account for breast cancer in her family, developed invasive breast cancer shortly after presenting to the clinic for evaluation. The health care implications of genetic testing, either for these women or their family members, outweighed any potential concerns related to confidentiality, genetic discrimination, or test expense issues.
Risk Management: Decisions Following GCRA
Risk for breast cancer ranged from 4% to 35% (mean 17%) by the Gaff model, which takes into account having a first-degree relative with the disease, hormonal risk factors, and prior breast biopsy history, and 10% to 34% (mean 22%) by the Claus tables which estimate risk based on degree of relationship and age at onset (Claus, Risch, & Thompson, 1994; Gail et al., 1989) (see Table 3). The probability of carrying a BRCA gene mutation was based on data derived from women presenting to a breast clinic for risk assessment (Couch et al., 1997). Following GCRA, most women chose to manage breast cancel: risk by screening measures deemed appropriate for their assessed risk level. One of the three women who carried a BRCA gene mutation opted for close surveillance for the short term. In a few years, she plans to undergo prophylactic mastectomy when her toddler is in school, and she would be approaching the age at which her relatives had been diagnosed with breast cancer (40s). Another gene carrier had a mastectomy because of breast cancer identified when she presented for GCRA, and a prophylactic contralateral mastectomy. She also chose to undergo a prophylactic oophorectomy to minimize mutation-associated ovarian cancer risk. The third carrier opted for surgical prophylaxis as well. She stated that since she "had to be there" for her children, she would do whatever she possibly could to prevent cancer, despite body image changes and surgical invasiveness. Subsequently, she has undergone both bilateral prophylactic mastectomy and oophorectomy, with breast reconstruction by the transabdominal rectus muscle flap procedure, and is pleased with her decision. Importantly, the woman who did not carry the known genetic cause of cancer in her family was removed from high-risk screening and advised to follow national breast cancer screening guidelines for general population risk. She was greatly relieved to learn that not only was she not at increased cancer risk but that her children would also not be at hereditary risk since she did not carry the cause of cancer in her family.
The 23 unaffected women with a family history of breast or ovarian cancer presenting to a comprehensive cancer center for genetic cancer risk assessment stated a variety of attitudes and beliefs regarding risk status and management strategies. Most of the unaffected women in this study were near the age of onset of cancer in their close relative. This timing may have resulted in an accentuation of cancer concerns and prompted presentation for risk assessment services (MacDonald et al., 2002). Closer screening was the preferred means of reducing breast cancer risk. Prophylactic surgery as a risk management strategy was acceptable if the women deemed themselves to be at a very high risk for cancer by virtue of carrying a BRCA gene mutation. The small sample size, subject characteristics, and setting from which the study participants were derived limits generalization of study findings. A larger more comprehensive study is now in progress to address these limitations.
The study provides valuable insights for nursing intervention. Most nurses, regardless of practice setting, will at some point encounter a woman with a family history of breast or ovarian cancer. Nurses informed of the concerns, beliefs, and risk management decisions of these women will be better prepared to meet their needs by ensuring that women are not only aware of risk management options but also have adequate, accurate, and thorough information to guide their risk management decisions. Supporting women through the decision-making process includes encouraging women to take time to consider each option in terms of their own beliefs, values, and life circumstances. Involving family members in discussions when appropriate, collaborating with and referring women to cancer risk assessment and psychological services as needed, are also within the realm of nursing practice. Women at high risk for breast and ovarian cancer due to an inherited predisposition may need additional support for themselves and their family members regarding risk management and conveying this information to relatives.
Table 1. Subjects Family History Breast Cancer Only 17 families 16 = [greater than or equal to] mother or sister 1 = half-sister and aunt Ovarian Cancer Only 2 families Both with the mother affected Breast and Ovarian Cancer 4 families One mother had both cancers Table 2. Genetic Testing Results BRCA Gene Testing 7 women tested Results Positive for mutation: 3 No mutation identified: 4, including one tested for the known family mutation
Table 3. Empiric Breast Cancer Risk Evaluation Criteria
Race, age (valid if at least age 35), age at first menses, age at first live birth, number of first-degree relatives with breast cancer, number of previous breast biopsies and if atypical hyperplasia is present. Risk in the next 5 years and lifetime (to age 90) risk is calculated.
Age of woman being evaluated, age at breast cancer onset for first or second degree relatives, (mother and aunt) by maternal or paternal lineage. Risk is provided in 10-year increments from age 29 through age 79.
Acknowledgments: The author thanks the women who participated in the study, Sharon Sand, CCRP, and Sarah McCaffrey, MS, RN, for manuscript suggestions, and Alejandra Wright for assistance with manuscript preparation.
Note: This article was developed by a member of the International Society of Nurses in Genetics, Inc. For more information on ISONG visit their Web site at http://www.isong.org or contact Executive Director Eileen Rawnsley, BSN, RN, CGC, at 7 Haskins Road, Hanover, NH 03755; email: firstname.lastname@example.org; Fax: (603) 643-3169.
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Deborah J. MacDonald, MS, RN, CS, APNGc, is the Genetics Associate and Assistant Director of the Cancer Screening & Prevention Program Network, City of Hope Comprehensive Cancer Center, Duarte, CA.
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|Author:||MacDonald, Deborah J.|
|Date:||Aug 1, 2002|
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