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Genetics of Breast and Ovarian Cancer (PDQ®)
Health Professional Version   Last Modified: 12/23/2008



Purpose of This PDQ Summary






Introduction






Major Genes






Low Penetrance Predisposition to Breast and Ovarian Cancer






Interventions






Psychosocial Issues in Inherited Breast Cancer Syndromes






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Changes to This Summary (12/23/2008)






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Psychosocial Issues in Inherited Breast Cancer Syndromes

Introduction
Interest in and Uptake of Genetic Testing
What People Bring to Genetic Testing: Impact of Risk Perception, Health Beliefs, and Personality Characteristics
Genetic Counseling for Hereditary Predisposition to Breast Cancer
Emotional Outcomes of Individuals
Family Effects
        Family communication about genetic testing and hereditary risk
        Family functioning
        Partners of high-risk women
        At-risk males
        Children
        Reproductive issues
Cultural/Community Effects
Ethical Concerns
Psychosocial Aspects of Cancer Risk Management for Hereditary Breast and Ovarian Cancer
        Decision aids for persons considering risk management options for hereditary breast and ovarian cancer
        Uptake of cancer risk management options
        Cancer screening and risk-reducing behaviors
Psychosocial Outcome Studies
        Risk-reducing mastectomy
        Risk-reducing salpingo-oophorectomy
Interventions: Psychological
Behavioral Outcomes



Introduction

Psychosocial research in the context of cancer genetic testing helps to define psychological outcomes, interpersonal and familial effects, and cultural and community responses. It also identifies behavioral factors that encourage or impede surveillance and other health behaviors. It can enhance decision-making about risk-reduction interventions, evaluate psychosocial interventions to reduce distress and/or other negative sequelae related to risk notification and genetic testing, provide data to help resolve ethical concerns, and predict the interest in testing of various groups.

Research in these areas is limited by few randomized controlled trials, and many reports are based on uncontrolled studies of selected high-risk populations. Research is likely to expand considerably with access to larger populations of at-risk individuals.

There have been a number of descriptions of cancer genetics programs that provide genetic susceptibility testing.[1-9] The development of such programs was encouraged by federal funding of multidisciplinary research programs that offered intensive genetic counseling for hereditary cancer syndromes, psychological assessment and back-up, and physician involvement.[10]

Interest in and Uptake of Genetic Testing

Decisions about whether to pursue breast cancer genetic testing involve complex biologic, behavioral and social elements.[11] There are vast differences in interest in and actual uptake rates of testing reported in the literature. In a systematic review of 40 peer-reviewed primary clinical studies published between 1990 and May 2002,[12] it was reported that sampling frame and other methodological variables contributed to the wide variability. On average, interest in genetic testing was 66% (range 20%-96%), while actual uptake of genetic testing was 59% (range 25%-96%) (odds ratio [OR] 1.27; 95% confidence interval [CI], 1.16–1.39). In multivariate analysis, personal and family history of cancer, study recruitment and setting were all associated with testing uptake.

Furthermore, accrual statistics in different populations are difficult to compare because there are many points in the genetic risk assessment process at which a family member can decline, and no standard method of reporting these rates has been developed.[13] Factors that may influence uptake of testing include:

  • Cost of genetic testing.
  • How informative testing would be (e.g., presence of a known mutation in the family or ethnic group vs. lack of an identified mutation).
  • Extent to which genetic test results are likely to influence clinical decision-making.[14]

Motivations for testing include the belief that testing positive would increase one’s motivation to get regular clinical breast examinations, to do breast self-exams, and to get recommended mammograms.[15] Women known to be at increased risk do not necessarily adhere to screening recommendations at higher rates than women at population risk, nor do they necessarily pursue or complete genetic testing, though the data on this subject are contradictory.[16-18] An additional motivation for testing is to receive information that would benefit other family members.[19] Another motivator for testing may be recommendation by a physician. In a retrospective study of 335 women considering genetic testing, 77% reported that they wanted the opinion of the genetics physician about whether they should be tested, and 49% wanted the opinion of their primary care provider.[20]

In one study of women who pursued BRCA1 and BRCA2 mutation testing and received uninformative test results, 45% (17/40) were interested in undergoing additional testing for five large rearrangements (deletions and insertions) in the BRCA1 gene. There were no significant differences in BRCAPRO scores, age at time of genetic testing, number of children, or number of siblings between individuals who chose to pursue additional testing and those who declined. Women who chose to undergo additional testing were significantly less likely to have a diagnosis of breast or ovarian cancer at the time of initial testing.[21]

Limited data are available about the characteristics of at-risk individuals who decline to be or have never been tested. It is difficult to access samples of test decliners since they are people who also may be reluctant to participate in research studies. Studies of testing are difficult to compare because people may decline at different points and with different amounts of pretest education and counseling. One study found that 43% of affected and unaffected individuals from hereditary breast/ovarian cancer families completing a baseline interview regarding testing declined. Most individuals declining testing chose not to participate in educational sessions. Decliners were more likely to be male and unmarried and had fewer relatives affected with breast cancer. Those decliners who had high levels of cancer-related stress had higher levels of depression. Decliners lost to follow-up were significantly more likely to be affected with cancer.[22] Another study looked at a small number (n = 13) of women decliners who carry a 25% to 50% probability of harboring a BRCA mutation and found that these nontested women were more likely to be childless and have a higher educational level. This study showed that most women had decided not to undergo the test after serious deliberation about the risks and benefits. Satisfaction with frequent surveillance was given as one reason for nontesting in most of these women.[23] Other reasons for declining included having no children and becoming acquainted with breast/ovarian cancer in the family relatively early in their lives.[22,23] A third study evaluated characteristics of 34 individuals who declined BRCA1/2 testing in a large multicenter study in the United Kingdom. Decliners were younger compared with a national sample of test acceptors, and female decliners had lower mean scores on a measure of cancer worry. Although 78% of test decliners/deferrers felt that their health was at risk, they reported that learning about their BRCA1/2 mutation status would cause them to worry about the following:

  • Their children's health (76%).
  • Their life insurance (60%).
  • Their own health (56%).
  • Loss of their job (5%).
  • Receiving less screening if they did not carry a BRCA1/2 mutation (62%).

Apprehension about the impact of the test result was a more important factor in the reason to decline than concrete burdens such as time to travel to a genetics clinic and time away from work, family, and social obligations.[24] In 15% (n = 31) of individuals from 13 hereditary breast and ovarian cancer families who underwent genetic education and counseling and declined testing for a documented mutation in the family, positive changes in family relationships were reported, specifically greater expressiveness and cohesion, compared with those who pursued testing.[25]

Participation in breast cancer risk counseling among family relatives of breast cancer patients is positively associated with higher levels of education, income, and positive health behaviors (nonsmokers, any current alcohol use, recent clinical breast exam), and perceived and objective risk perception.[26,27] Other predictors of participation are being married, having a family history of cancer, presence of a daughter, fear of stigma, and believing there are more reasons to be tested than not to be tested.[28]

Women recruited from high-risk clinics, i.e., women who have expressed their concern about breast cancer by seeking specialized medical attention, are more likely than women recruited from registry sources to attend counseling and educational sessions about cancer genetics and genetic testing.[16,29] Genetic testing uptake was influenced by eligibility for free testing, history of breast or ovarian cancer, and Ashkenazi Jewish heritage.[14] Interest in testing declines sharply if it is not immediately available.[16] Knowledge about the details of cancer genetic testing is not associated with the decision to be tested,[30] suggesting a need for improved education about cancer genetics. Several studies suggest that interest in cancer genetic testing is generally high despite respondents' relative lack of knowledge regarding the pros and cons of attempting to learn one's mutation status.[27]

There are limited data on uptake of genetic counseling and testing among nonwhite populations, and further research will be needed to define factors influencing uptake in these populations.[29] In a study of African-American women at increased risk of breast cancer, those with a personal history of cancer or a greater perceived risk for developing cancer were more likely to report greater limitations or drawbacks of genetic testing. Those with more fatalistic beliefs about cancer, higher perceived risk of having a BRCA1/2 mutation, and more relatives affected with breast or ovarian cancer were more likely to consider undergoing BRCA1/2 testing.[31] In a case-control study of women who had been seen in a university-based primary care system, African-American women with a family history of breast or ovarian cancer were less likely to undergo BRCA1/2 testing compared with white women who had similar histories. Other predictors of testing used in that study include younger age, higher anxiety, belief that testing will provide reassurance, absence of concern about discrimination, and having had a primary care doctor or gynecologist discuss genetic testing with the patient.[32]

What People Bring to Genetic Testing: Impact of Risk Perception, Health Beliefs, and Personality Characteristics

The emerging literature in this area suggests that risk perceptions, health beliefs, psychological status, and personality characteristics are important factors in decision-making about breast/ovarian cancer genetic testing. Many women presenting at academic centers for BRCA1/2 testing arrive with a strong belief that they have a mutation, having decided they want genetic testing, but possessing little information about the risks or limitations of testing.[33] Most mean scores of psychological functioning at baseline for subjects in genetic counseling studies were within normal limits.[34] Nonetheless, a subset of subjects in many genetic counseling studies present with elevated anxiety, depression, or cancer worry.[35] Identification of these individuals is essential to prevent adverse outcomes.

A general tendency to overestimate inherited risk of breast and ovarian cancer has been noted in at-risk populations,[36-38] in cancer patients,[37,39,40] in spouses of breast and ovarian cancer patients,[41] and among women in the general population.[42-44] This tendency may encourage a belief that BRCA1/2 genetic testing will be more informative than it is currently thought to be. There is some evidence that even counseling does not dissuade women at low to moderate risk from the belief that BRCA1 testing could be valuable.[29] Overestimation of both breast and ovarian cancer risk has been associated with nonadherence to physician-recommended screening practices.[45,46] A meta-analysis of 12 studies of outcomes of genetic counseling for breast/ovarian cancer showed that counseling improved the accuracy of risk perception.[47]

Women appear to be the prime communicators within families about the family history of breast cancer.[48] Higher numbers of maternal versus paternal transmission cases are reported,[49] likely due to family communication patterns, to the misconception that breast cancer risk can only be transmitted through the mother, and to the greater difficulty in recognizing paternal family histories because of the need to identify more distant relatives with cancer. Physicians and counselors taking a family history are encouraged to elicit paternal as well as maternal family histories of breast, ovarian, or other associated cancers.[48]

The accuracy of reported family history of breast or ovarian cancer varies; some studies found levels of accuracy above 90%,[50,51] with others finding more errors in the reporting of cancer in second-degree or more distant relatives[52] or in age of onset of cancer.[53] Less accuracy has been found in the reporting of cancers other than breast cancer. Ovarian cancer history was reported with 60% accuracy in one study compared with 83% accuracy in breast cancer history.[54] Providers should be aware that there are a few published cases of Munchausen syndrome in reporting of false family breast cancer history.[55] Much more common is erroneous reporting of family cancer history due to unintentional errors or gaps in knowledge, related in some cases to the early death of potential maternal informants about cancer family history.[48] (Refer to the Taking a Family History section of the Cancer Genetics Risk Assessment and Counseling summary.)

Targeted written,[56,57] video, CD-ROM, interactive computer program,[58-62] and culturally targeted educational materials [63] may be an effective and efficient means of increasing knowledge about the pros and cons of genetic testing. Such supplemental materials may allow more efficient use of the time allotted for pretest education and counseling by genetics and primary care providers and may discourage ineligible individuals from seeking genetic testing.[56]

Genetic Counseling for Hereditary Predisposition to Breast Cancer

Counseling for breast cancer risk typically involves individuals with family histories that are potentially attributable to BRCA1 or BRCA2. It also, however, may include individuals with family histories of Li-Fraumeni Syndrome, ataxia-telangiectasia, Cowden syndrome, or Peutz-Jeghers syndrome.[64] (See the Major Genes section of this summary.)

Management strategies for carriers may involve decisions about the nature, frequency, and timing of screening and surveillance procedures, chemoprevention, risk-reducing surgery, and use of hormone replacement therapy. The utilization of breast conservation and radiation as cancer therapy for women who are carriers may be influenced by knowledge of mutation status. (See the Interventions section of this summary.)

Counseling also includes consideration of related psychosocial concerns and discussion of planned family communication and the responsibility to warn other family members about the possibility of having an increased risk of breast, ovarian, and other cancers. Data are emerging that individual responses to being tested as adults are influenced by the results status of other family members.[65,66] Management of anxiety and distress are important not only as quality-of-life factors, but also because high anxiety may interfere with the understanding and integration of complex genetic and medical information as well as adherence to screening.[17,18,67] The limited number of medical interventions with proven benefit to mutation carriers provides further basis for the expectation that mutation carriers may experience increased anxiety, depression, and continuing uncertainty following disclosure of genetic test results.[68] Formal, objective evaluation of these outcomes are now emerging. (Refer to the sections below on Emotional Outcomes and Behavioral Outcomes.)

Published descriptions of counseling programs for BRCA1 (and subsequently for BRCA2) testing include strategies for gathering a family history, assessing eligibility for testing, communicating the considerable volume of relevant information about breast/ovarian cancer genetics and associated medical and psychosocial risks and benefits, and discussion of specialized ethical considerations about confidentiality and family communication.[3,69-75] Participant distress, intrusive thoughts about cancer, coping style, and social support were assessed in many prospective testing candidates. The psychosocial outcomes evaluated in these programs have included changes in knowledge about the genetics of breast/ovarian cancer after counseling, risk comprehension, psychological adjustment, family and social functioning, and reproductive and health behaviors.[76] A Dutch study of communication processes and satisfaction levels of counselees going through cancer genetic counseling for inherited cancer syndromes indicated that asking more medical questions (by the counselor), providing more psychosocial information, and longer eye contact by the counselor were associated with lower satisfaction levels. The provision of medical information by the counselor was most highly related to satisfaction and perception that needs have been fulfilled.[77] Additional research is needed on how to adequately address the emotional needs and feelings of control of counselees.

Many of the psychosocial outcome studies involve specialized, highly selected research populations, some of which were utilized to map and clone BRCA1 and BRCA2. One such example is K2082, an extensively studied kindred of more than 800 members of a Utah Mormon family in which a BRCA1 mutation accounts for the observed increased rates of breast and ovarian cancer. A study of the understanding that members of this kindred have about breast/ovarian cancer genetics found that, even in breast cancer research populations, there was incomplete knowledge about associated risks of colon and prostate cancer, the existence of options for risk-reducing mastectomy (RRM) and risk-reducing salpingo-oophorectomy (RRSO), and the complexity of existing psychosocial risks.[3] A meta-analysis of 21 studies found that genetic counseling was effective in increasing knowledge and improved the accuracy of perceived risk. Genetic counseling did not have a statistically significant long-term impact on affective outcomes including anxiety, distress, or cancer-specific worry and the behavioral outcome of cancer surveillance activities.[34] These prospective studies, however, were characterized by a heterogeneity of measures of cancer-specific worry and inconsistent findings in effects of change from baseline.[34]

It is not yet clearly established to what extent findings derived from special research populations, at least some of which have long awaited genetic testing for breast/ovarian cancer risk, are generalizable to other populations. For example, there are data to suggest that the BRCA1/2 penetrance estimates derived from these dramatically affected families are substantial overestimates and do not apply to most families presenting for counseling and possible testing.[78]

Emotional Outcomes of Individuals

The few studies conducted to date of psychological outcomes associated with genetic testing for mutations in breast/ovarian cancer predisposition genes have shown low levels of distress among those found to be carriers and even lower levels among noncarriers.[56,79-82] A systematic review found that the studies assessing measures of distress (9 of 11 studies) found no change, or a decrease, in those parameters (including anxiety, depression, general distress, and situation distress) in people who had undergone testing at assessments done at 1 month or less, and 3 to 6 months later.[83] One follow-up study from the United Kingdom measured levels of cancer-related worry, general mental health, risk perception, intrusive or avoidant thoughts, and risk-management behaviors at baseline and 1, 4, and 12 months after results were provided. This study included 202 unaffected women and 59 unaffected men, of whom 91 tested positive and 170 tested negative. Results showed that while female noncarriers had significant (P <.001) reductions in cancer-related worry, female carriers younger than 50 years had an increase in cancer-related worry 1 month posttesting. These levels returned to baseline by 12 months but remained higher than noncarrier levels throughout the 12-month period. Female carriers engaged in more posttest screening than noncarriers (92% vs. 30%) within 12 months of test results disclosure. Thirty carriers had RRM and/or RRSO within the same time period.[84] A slightly smaller subset of this cohort was assessed again for cancer-related worry, general mental, health and risk-management behaviors at 3 years post-genetic test result disclosure. One hundred fifty-four women and 39 males, including 71 carriers and 122 noncarriers, returned the questionnaire. The level of distress and cancer worry was similar between carriers and noncarriers. Female carriers had higher distress levels at 3 years versus 1 year post-disclosure, but their level of cancer worry decreased significantly over the same time period. In female noncarriers, although the level of cancer worry had decreased from baseline to 1 year post-disclosure, these levels returned to baseline by 3 years.[85] The authors, however did not comment on contextual factors that might influence distress and cancer worry levels. Another study reported that, compared with pretest levels, mean scores on 1-year posttest measures of cancer-specific distress and state-anxiety decreased significantly among noncarriers, while scores on these measures as well as on a measure of general distress, did not change among BRCA1/2 carriers.[86] One long-term study of 65 female participants explored the psychosocial consequences of carrying a BRCA1/2 mutation 5 years after genetic testing. Carriers did not differ from noncarriers on several distress measures. Although both groups showed significant increases in depression and anxiety compared with 1 year postdisclosure, these scores remained within normal limits for the general population.[87] Caution is advised by authors of these studies in interpretation of the results as they are all from programs in which results disclosure was preceded by extensive genetic counseling about risks and benefits of BRCA1/2 testing, psychological assessment, and even, occasionally, exclusion of a few individuals who appeared highly distressed.[3] Intrusive thoughts (measured by the Impact of Event Scale [IES]) [88] about cancer diminished after results disclosure for both mutation-positive and mutation-negative individuals in one Dutch study.[89]

A prospective Australian study evaluated the psychological impact of genetic testing at baseline, 7 to 10 days, 4 months, and 12 months in 60 women of Ashkenazi Jewish heritage (ten with breast cancer, 50 unaffected). Of the 43 women who opted to learn their test results, 97% felt pleased to have had the test and, at 12 months of follow-up, none regretted having been tested. Seventeen women opted not to receive their results and had significantly lower levels of breast cancer anxiety than did those who opted to receive their results. Women with no history of cancer who opted to learn their results showed a progressive decrease in breast cancer anxiety over the 12-month study period compared with baseline measures. There was also no statistically significant difference in measures of depression and generalized anxiety from baseline to the follow-up assessments.[90] However, these results must be interpreted in light of the fact that only 7 of 43 women had deleterious mutations.

Despite generally positive findings regarding diminished distress in tested individuals, most studies also report increased distress among small subsets of tested individuals. Most, but not all, of these increases are within the normal range of distress. Increased distress has been noted by individuals receiving both positive and negative test results. Studies suggest that the psychological impact of an individual test result is highly influenced by the test result status of other family members. A 1999 study found that an individual’s response to learning his or her own BRCA1/2 test result was significantly influenced by his or her gender and by the genetic test result status of other family members. Adverse, immediate outcomes were experienced by male carriers who were the first tested in their family or by noncarrier men whose siblings were all positive. In addition, female carriers who were the first in their families to be tested or whose siblings were all negative had significantly higher distress than other female carriers.[65] Another study found that spousal anxiety about genetic testing and supportiveness differentiated the impact of BRCA1/2 test results. When the spouse was highly anxious and unsupportive in style, the mutation carrier had significantly higher levels of distress. These studies illustrate that genetic test results are not received in a vacuum, and that researchers need to consider the context of the tested individual in determining which individuals applying for genetic testing may require additional emotional support.[66]

In another study, depression rates postdisclosure were unchanged for mutation carriers and markedly decreased for noncarriers.[22] An analysis of the distress of individuals receiving BRCA1 results in the context of their siblings' results, however, revealed patterns of response suggesting that certain subgroups of tested individuals have markedly increased levels of distress after disclosure that were not apparent when the analysis focused only on comparing the mean scores for carriers versus noncarriers.[65] Early optimistic findings may not sufficiently reflect the true complexity of response to disclosure of BRCA1/2 test results. Female carriers who had no carrier siblings had distress scores (IES) similar to those found in cancer patients 10 weeks after their diagnosis. The distress of male subjects was highly correlated with the status of their siblings’ test results or lack thereof.[65] One pilot study suggested that women diagnosed more recently were more distressed after counseling.[91] A survey of women enrolled in a high-risk clinic found that heightened levels of distress may be more related to living with the awareness of a familial risk for cancer than with the genetic testing process itself. Obtaining genetic testing may be less stressful than living with the awareness of familial risk for cancer.[92] (Note: For more detailed information about depression and anxiety associated with a cancer diagnosis, refer to the PDQ Supportive Care summaries on Anxiety Disorder; Depression; and Normal Adjustment and the Adjustment Disorders.) Case descriptions have supported the importance of family relationships and test outcomes in shaping the distress of tested individuals.[93,94]

Although there are not yet reports of large-scale studies of the reactions of affected individuals to genetic testing, there are indications from several smaller studies that affected individuals who undergo genetic counseling and testing experience more distress than had been expected by professionals [95,96] and are less able themselves to anticipate the intensity of their reactions following result disclosure.[97] Female mutation carriers who have had breast cancer are often surprised by their high level of risk for ovarian cancer. Women mutation carriers who have had breast cancer worried more than unaffected women about developing ovarian cancer, though, in general, worry about ovarian cancer risk was found to be unrealistically low.[96] In addition, some distress related to the burden of conveying genetic information to relatives has been noted among those who are the first in their families to be tested.[95,98]

Several studies have compared the provision of breast cancer genetics services by different providers and the psychological impact on women at high and low risk for cancer. In a study of 735 women at all levels of risk for hereditary breast/ovarian cancer, the services of a multidisciplinary team of genetics specialists was compared with services provided by surgeons. There were no significant differences between groups in anxiety, cancer worry, or perceived risk.[99] In a Scottish study of 373 participants, an alternative model of cancer genetics services using genetics nurse specialists in community-based services was compared with standard genetics regional services. There was no difference in cancer worry or change in health behaviors between the two groups. Cancer worry decreased for both groups over a 6-month period. Women who dropped out of the study tended to be in the nurse provider arm or were at low risk of breast cancer.[100] In a small U.S. study, an evaluation of nurses and genetic counselors as providers of education about breast cancer susceptibility testing was conducted to compare outcomes of pretest education about breast cancer susceptibility. Four genetic counselors and two nurses completed specialized training in cancer genetics. Women receiving pretest education from nurses were as satisfied with information received and had equal degrees of perceived autonomy and partnership. The study findings suggest that with proper training and supervision, both genetic counselors and nurses can be effective in providing pretest education to women considering genetic susceptibility testing for breast cancer risk.[101]

There has been little empirical research in the communication of risk assessments to individuals at risk of breast/ovarian cancer syndromes. When asked to choose a preferred method, individuals undergoing genetic counseling for breast and ovarian cancer appear to prefer quantitative to qualitative presentation of risk information.[102,103] One study indicated that most women wanted information given both ways.[39] Information about the risk of developing breast cancer among women with a family history of breast cancer may be more accurately recalled when presented as odds ratios rather than in other forms.[104]

There is a small but growing body of literature on the use of decision aids as an adjunct to standard genetic counseling to assist patients in making informed decisions about genetic testing. One study measured the effectiveness of a decision aid for BRCA1/2 genetic testing given to women at the end of their first genetic counseling consultation. At 1 week and 6 months follow-up, the decision aid had no effect on informed choice, post-decisional regret or actual genetic testing decision. However, women who received the decision aid had significantly higher knowledge levels and felt more informed about genetic testing than women who received the control pamphlet. The decision aid also helped those women who did not have their blood drawn for genetic testing at the first visit to clarify their values about their testing decision.[105]

Preferences for delivery of breast cancer genetic testing are reported in one study [103] to include counseling conducted by a genetic counselor (42%) or oncologist (22%) rather than by a primary care physician (6%), nurse (12%), or gynecologist (5%). Patients in that study preferred results disclosure by an oncologist. Younger women especially expressed a need for individual consideration of their personal values and goals or potential emotional reactions to testing; 67% believed emotional support and counseling were a necessary part of posttest counseling. Most women (82%) wanted to be able to self-refer for genetic testing, without a physician referral.

Family Effects

Family communication about genetic testing and hereditary risk

Family communication about genetic testing for cancer susceptibility, and specifically about the results of BRCA1/2 genetic testing, is complex; there are few systematic data available on this topic. Gender appears to be an important variable in family communication and psychological outcomes. One study documented that female carriers are more likely to disclose their status to other family members (especially sisters and children aged 14-18 years) than are male carriers.[106] Among males, noncarriers were more likely than carriers to tell their sisters and children the results of their tests. BRCA1/2 carriers who disclosed their results to sisters had a slight decrease in psychological distress, compared with a slight increase in distress for carriers who chose not to tell their sisters. Findings from other studies suggest that there may be more communication about inherited breast and ovarian cancer risk among female family members than between female and male relatives (e.g., between brothers and sisters and/or mothers and sons).[48,107]

Family communication of BRCA1/2 test results to relatives is another factor affecting participation in testing. There have been more studies of communication with first-degree and second-degree relatives than with more distant family members. One study investigated the process and content of communication among sisters about BRCA1/2 test results.[108] Study results suggest that both mutation carriers and women with uninformative results communicate with sisters to provide them with genetic risk information. Among relatives with whom genetic test results were not discussed, the most important reason given was that the affected women were not close to their relatives. Studies found that women with a BRCA mutation more often shared their results with their mother and adult sisters and daughters than with their father and adult brothers and sons.[109-111] A study that evaluated communication of test results to first-degree relatives at 4 months postdisclosure found that women aged 40 years or older were more likely to inform their parents of test results compared with younger women. Participants also were more likely to inform brothers of their results if the BRCA mutation was inherited through the paternal line.[110] Another study found that disclosure was limited mainly to first-degree relatives, and dissemination of information to distant relatives was problematic.[112] Age was a significant factor in informing distant relatives with younger patients being more willing to communicate their genetic test result.[108,109,112]

A few in-depth qualitative studies have looked at issues associated with family communication about genetic testing. Although the findings from these studies may not be generalizable to the larger population of at-risk persons, they illustrate the complexity of issues involved in conveying hereditary cancer risk information in families.[113] On the basis of 15 interviews conducted with women attending a familial cancer genetics clinic, the authors concluded that while women felt a sense of duty to discuss genetic testing with their relatives, they also experienced conflicting feelings of uncertainty, respect, and isolation. Decisions on whom in the family to inform and how to inform them about hereditary cancer and genetic testing may be influenced by tensions between women's need to fulfill social roles and their responsibilities toward themselves and others.[113] Another qualitative study of 21 women who attended a familial breast and ovarian cancer genetics clinic suggested that some women may find it difficult to communicate about inherited cancer risk with their partners and with certain relatives, especially brothers, because of those persons’ own fears and worries about cancer.[107] This study also suggested that how genetic risk information is shared within families may depend on the existing norms for communicating about cancer in general. For example, family members may be generally open to sharing information about cancer with each other, may selectively avoid discussing cancer information with certain family members to protect themselves or other relatives from negative emotional reactions, or may ask a specific relative to act as an intermediary to disclosure of information to other family members.[114] The potential importance of persons outside the family, such as friends, as both confidantes about inherited cancer risk information and as sources of support for coping with this information was also noted in the study.[107]

A study of 31 mothers with a documented BRCA mutation explored patterns of dissemination to children.[115] Of those who chose to disclose test results to their children, age of offspring was the most important factor. Fifty percent of the children who were told were between ages 20 years and 29 years and slightly more than 25% of the children were aged 19 years or younger. Sons and daughters were notified in equal numbers. More than 70% of mothers informed their children within a week of learning their test result. Ninety-three percent of mothers who chose not to share their results with their children indicated that it was because their children were too young. These findings were consistent with two other studies showing that children younger than 13 years were less likely to be informed about test results compared with older children.[110,116] Another study of 187 mothers undergoing BRCA1/2 testing evaluated their need for resources to prepare for a facilitated conversation about sharing their BRCA1/2 testing results with their children. Seventy-eight percent of mothers were interested in three or more resources, including literature (93%), family counseling (86%), talk to prior participants (79%), and support groups (54%).[116]

A longitudinal study of 153 women self-referred for genetic testing for BRCA1 and BRCA2 mutations and 118 of their partners evaluated communication about genetic testing and distress before testing and at 6 months posttesting.[117] The study found that most couples discussed the decision to undergo testing (98%), most test participants felt their partners were supportive, and most women disclosed test results to their partners (97%, n = 148). Test participants who felt their partners were supportive during pretest discussions experienced less distress after disclosure, and partners who felt more comfortable sharing concerns with test participants pretest experienced less distress after disclosure. Six-month follow-up revealed that 22% of participants felt the need to talk about the testing experience with their partners in the week before the interview. Most participants (72%, n = 107) reported comfort in sharing concerns with their partners, and 5% (n = 7) reported relationship strain as a result of genetic testing. In couples in which the woman had a positive genetic test result, more relationship strain, more protective buffering of their partners, and more discussion of related concerns were reported than in couples in which the woman had a true-negative or uninformative result.[117]

There is a small but growing body of literature regarding psychological effects in men who have a family history of breast cancer and who are considering or have had BRCA testing. A qualitative study of 22 men from 16 high-risk families in Ireland revealed that more men in the study with daughters were tested than men without daughters. These men reported little communication with relatives about the illness, with some men reporting being excluded from discussion about cancer among female family members. Some men in the study also reported actively avoiding open discussion with daughters and other relatives.[118] In contrast, a study of 59 men testing positive for a BRCA1/2 mutation found that most men participated in family discussions about breast and/or ovarian cancer. However, fewer than half of the men participated in family discussions about risk-reducing surgery. The main reason given for having BRCA testing was concern for their children and a need for certainty about whether they could have transmitted the mutation to their children. In this study, 79% of participating men had at least one daughter. Most of these men described how their relationships had been strengthened after receipt of BRCA results, helping communication in the family and greater understanding.[119] Men in both studies expressed fears of developing cancer themselves. Irish men especially reported fear of cancer in sexual organs.

Family functioning

In a study of 212 individuals from 13 hereditary breast and ovarian cancer families who received genetic counseling and were offered BRCA1/2 testing for documented mutation in the family, individuals who were not tested were found 6 to 9 months later to have significantly greater increases in expressiveness and cohesiveness compared with those who were tested. Persons who were randomized to a client-centered versus problem-solving genetic counseling intervention had a significantly greater reduction in conflict, regardless of the test decision.[25]

Partners of high-risk women

Many studies have looked at the psychological effects in women of having a high risk of developing cancer, either on the basis of carrying a BRCA1/2 mutation or having a strong family history of cancer. However, few studies have looked at the effects on the partners of such women.

A Canadian study assessed 59 spouses of women found to have a BRCA1/2 mutation. All were supportive of their spouses’ decision to undergo genetic testing and 17% wished they had been more involved in the genetic testing process. Spouses who reported that genetic testing had no impact on their relationship had long-term relationships (mean duration 27 years). Forty-six percent of spouses reported that their major concern was of their partner dying of cancer. Nineteen percent were concerned their spouse would develop cancer and 14% were concerned their children would also be BRCA1/2 mutation carriers.[120]

In a U.S. study, 118 partners of women undergoing genetic testing for mutations in BRCA1 and BRCA2 completed a survey prior to testing and then again 6 months following result disclosure. At 6 months, only 10 partners reported that they had not been told of the test result. Ninety-one percent reported that the testing had not caused strain on their relationship. Partners who were comfortable sharing concerns prior to testing experienced less distress following testing. Protective buffering was not found to impact distress levels of partners.[117]

An Australian study of 95 unaffected women at high risk of developing breast and/or ovarian cancer (13 mutation carriers and 82 with unknown mutation status) and their partners showed that although the majority of male partners had distress levels comparable to a normative population sample, 10% had significant levels of distress that indicated the need for further clinical intervention. Men with a high monitoring coping style and greater perceived breast cancer risk for their wife reported higher levels of distress. Open communication between the men and their partners and the occurrence of a cancer-related event in the wife’s family in the last year were associated with lower distress levels. When men were asked what kind of information and support they would like for themselves and their partners, 57.9% reported that they would like more information about breast and ovarian cancer, and 32.6% said they would like more support in dealing with their partner's risk. Twenty-five percent of men had suggestions on how to improve services for partners of high-risk women, including strategies on how to best support their partner, greater encouragement from healthcare professionals to attend appointments, and meeting with other partners.[121]

At-risk males

A study of Dutch men at increased risk of having inherited a BRCA1 mutation reported a tendency for the men to deny or minimize the emotional effects of their risk status, and to focus on medical implications for their female relatives. Men in these families, however, also reported considerable distress in relation to their female relatives.[122] In another study of male psychological functioning during breast cancer testing, 28 men belonging to 18 different high-risk families (with a 25% or 50% risk of having inherited a BRCA1/2 mutation) participated. The study purpose was to analyze distress in males at risk of carrying a BRCA1/2 mutation who applied for genetic testing. Of the men studied, most had low pretest distress; scores were lowest for men who were optimistic or who did not have daughters. Most mutation carriers had normal levels of anxiety and depression and reported no guilt, though some anticipated increased distress and feelings of responsibility if their daughters developed breast or ovarian cancer. None of the noncarriers reported feeling guilty.[123] In one study,[119] adherence to recommended screening guidelines after testing was analyzed. In this study, more than half of male carriers of mutations did not adhere to the screening guidelines recommended after disclosure of genetic test results. These findings are consistent with those for female carriers of BRCA1/2 mutations.[119,124]

A multicenter U.K. cohort study examined prospective outcomes of BRCA1/2 testing in 193 individuals, of which 20% were men aged 28 to 86 years. Men’s distress levels were low, did not differ among carriers and noncarriers, and did not change from baseline (pre-genetic testing) to the 3-year follow-up. Twenty-two percent of male mutation carriers received colorectal cancer screening and 44% received prostate cancer screening;[85] however, it is unclear whether men in this study were following age-appropriate screening guidelines.

Children

Several studies have explored communication of BRCA test results to at-risk children. Across all studies, the rate of disclosure to children ranging in age from 4 to 25 years is approximately 50%.[109,110,112,116,125-128] In general, age of offspring was the most important factor in deciding whether to disclose test results. In one study of 31 mothers disclosing their BRCA test results, 50% of the children who were informed of the results were aged 20 to 29 years and slightly more than 25% of the children were aged 19 years or younger. Sons and daughters were notified in equal numbers.[115] Similarly, in another study of 42 female BRCA mutation carriers, 83% of offspring older than age 18 years were told of the results, while only 21% of offspring aged 13 years or younger were told.[116]

Several studies have also looked at the timing of disclosure to children after parents receive their test results. Although the majority of children were told within a week to several months after results disclosure,[110,115,116] some parents chose to delay disclosure.[116] Reasons for delaying disclosure included waiting for the child to get older, allowing time for the parent to adjust to the information, and waiting until results could be shared in person (in the case of adult children living away from home).[116]

One study looked at the reaction of children to results disclosure or the effect on the parent-child relationship of communicating the results.[116] With regard to offspring’s understanding of the information, almost half of parents from one study reported that their child did not appear to understand the significance of a positive test result, although older children were reported to have a better understanding. This same study also showed that 48% of parents reported at least one negative reaction in their child, ranging from anxiety or concern (22%) to crying and fear (26%). It should be noted, however, that in this study children's level of understanding and reactions to the test result were measured qualitatively and based only on the parents' perception. Also, given the retrospective design of the study, there was a potential for recall bias. There were no significant differences in emotional reaction depending on age or gender of the child. Lastly, 65% of parents reported no change in their relationship with their child, while 5 parents (22%) reported a strengthening of their relationship.

Another study of 187 mothers undergoing BRCA1/2 testing evaluated their need for resources to prepare for a facilitated conversation about sharing their BRCA1/2 testing results with their children. Seventy-eight percent of mothers were interested in three or more resources, including literature (93%), family counseling (86%), talking to prior participants (79%), and support groups (54%).[129]

Testing for BRCA1/2 has been almost universally limited to adults older than 18 years. The risks of testing children for adult-onset disorders (such as breast and ovarian cancer), as inferred from developmental data on children’s medical understanding and ability to provide informed consent, have been outlined in several reports.[130-133] Surveys of parental interest in testing children for adult-onset hereditary cancers suggest that parents are more eager to test their children than to be tested themselves for a breast cancer gene, suggesting potential conflicts for providers.[134,135] In a general population survey in the United States, 71% of parents said that it was moderately, very, or extremely likely that if they carried a breast-cancer predisposing mutation, they would test a 13-year-old daughter now to determine her breast cancer gene status.[134] To date, no data exist on the testing of children for BRCA1/2, though some researchers believe it is necessary to test the validity of assumptions underlying the general prohibition of testing of children for breast/ovarian cancer and other adult-onset disease genes.[136-138] In one study, 20 children (aged 11 to 17 years) of a selected group of mothers undergoing genetic testing (80% of whom previously had breast cancer and all of whom had discussed BRCA1/2 testing with their children) completed self-report questionnaires on their health beliefs and attitudes toward cancer, feelings related to cancer, and behavioral problems.[139] Ninety percent of children thought they would want cancer risk information as adults; half worried about themselves or a family member developing cancer. There was no evidence of emotional distress or behavioral problems. Another study by this group [127] found that 1 month after disclosure of BRCA1/2 genetic test results, 53% of 42 enrolled mothers of children aged 8 to 17 years had discussed their result with one or more of their children. Age of the child rather than mutation status of the mother influenced whether they were told, as did family health communication style.

In one study, participants who told children younger than 13 years about their carrier status had increased distress, and those who did not tell their young children experienced a slight decrease in distress. Communication with young children was found to be influenced by developmental variables such as age and style of parent/child communication.[127]

Reproductive issues

Prenatal diagnosis of breast/ovarian cancer predisposition is generally discouraged.[140] Adult age at onset, good prognosis for many breast cancer patients, and the expectation of greater medical progress by the time disease onset might be expected decades into the future make the prospect of prenatal diagnosis an uncomfortable one for many geneticists, leading potentially to charges of eugenics.[134,141] Limited data on the use of this technology are available. In a small series, 26 mutation carriers indicated that pregnancy termination based on mutation status would not be acceptable. Interestingly, a small percentage of nonmutation carriers felt that termination of a pregnancy, where the fetus was a mutation carrier was acceptable.[142] Historically, in Huntington disease, the uptake of prenatal diagnosis and termination is low.[143,144]

The U.K. Human Fertilization and Embryology authority has approved the use of preimplantation genetic diagnosis (PGD) for hereditary breast and ovarian cancer. In a sample of 102 women with a BRCA mutation, most were supportive of PGD but only 38% of the women who had completed their families would consider it for themselves and only 14% of women who were contemplating a future pregnancy would consider it.[145]

Cultural/Community Effects

The recognition that BRCA1/2 mutations are prevalent, not only in breast/ovarian cancer families but also in some ethnic groups,[146] has led to considerable discussion of the ethical, psychological, and other implications of having one’s ethnicity be a factor in determination of disease predisposition. Fears of genetic reductionism and the creation of a genetic underclass [147] have been voiced. Questions about the impact on the group of being singled out as having genetic vulnerability to breast cancer have been raised. There is also confusion about who gives or withholds permission for the group to be involved in studies of their genetic identity. These issues challenge traditional views on informed consent as a function of individual autonomy.[148]

A growing literature on the unique factors influencing a variety of cultural subgroups suggests the importance of developing culturally specific genetic counseling and educational approaches.[63,149-152]

Ethical Concerns

The human implications of the ethical issues raised by the advent of genetic testing for breast/ovarian cancer susceptibility are described in case studies,[153] essays,[68,154] and research reports. Issues about rights and responsibilities in families concerning the spread of information about genetic risk promise to be major ethical and legal dilemmas in the coming decades.

Studies have shown that 62% of studied family members were aware of the family history, and that 88% of hereditary breast/ovarian cancer family members surveyed have significant concerns about privacy and confidentiality. Expressed concern about cancer in third-degree relatives, or relatives farther removed, was about the same as that for first- or second-degree relatives of the proband.[155] Only half of surveyed first-degree relatives of women with breast or ovarian cancer felt that written permission should be required to disclose BRCA1/2 test results to a spouse or immediate family member. Attitudes toward testing varied by ethnicity, previous exposure to genetic information, age, optimism, and information style. Altruism is a factor motivating genetic testing in some people.[16] Many professional groups have made recommendations regarding informed consent.[16,27,72,156,157] There is some evidence that not all practitioners are aware of or follow these guidelines.[15] Research shows that many BRCA1/2 genetic testing consent forms do not fulfill recommendations by professional groups about the 11 areas that should be addressed,[156] and they omit highly relevant points of information.[15] In a study of women with a history of breast or ovarian cancer, the interviews yielded that the women reported feeling inadequately prepared for the ethical dilemmas they encountered when imparting genetic information to family members.[158] These data suggest that more preparation about disclosure to family members before testing reduces the emotional burden of disseminating genetic information to family members. Patients and health care providers would benefit from enhanced consideration of the ethical issues of warning family members about hereditary cancer risk.

Psychosocial Aspects of Cancer Risk Management for Hereditary Breast and Ovarian Cancer

Decision aids for persons considering risk management options for hereditary breast and ovarian cancer

There is a small but growing body of literature on the use of decision aids as an adjunct to standard genetic counseling to assist patients in making informed decisions about cancer risk management. One study showed that the use of a decision aid consisting of individualized value assessment and cancer risk management information after receiving positive BRCA1/2 test results was associated with fewer intrusive thoughts and lower levels of depression at the 6-month follow-up in unaffected women. Use of the decision aid did not alter cancer risk management intentions and behaviors. Slightly detrimental effects on well-being and several decision-related outcomes, however, were noted among affected women.[159] Another study compared responses to a tailored decision aid (including a values-clarification exercise) versus a general information pamphlet intended for women making decisions about ovarian cancer risk management. In the short term, the women receiving the tailored decision aid showed a decrease in decisional conflict and increased knowledge compared with women receiving the pamphlet, but no differences in decisional outcomes were found between the two groups. In addition, the decision aid did not appear to alter the participant’s baseline cancer risk management decisions.[160] A third decision aid focused on breast cancer risk management decision support for women with a BRCA1/2 mutation. Pre-evaluations and postevaluations of the decision aid in 20 women showed that use of the aid resulted in a significant decrease in decisional conflict, improvement in knowledge, and a decrease in uncertainty about tamoxifen use, RRM and RRSO. No significant differences were identified in cancer-related distress following the use of the tool.[161]

Uptake of cancer risk management options

An increasing number of studies have examined uptake and adherence to cancer risk management options among individuals who have undergone genetic counseling and testing for BRCA1 and BRCA2 gene mutations. Findings from these studies are reported in Tables 6 and 7. Outcomes vary across studies and include uptake or adherence to screening (mammography, magnetic resonance imaging [MRI], CA 125, transvaginal ultrasound) as well as selection of RRM and RRSO. Studies generally report outcomes by mutation carrier or testing status (e.g., mutation-positive, mutation-negative, or declined genetic testing). Follow-up time after notification of genetic risk status also varied across studies, ranging from 12 months up to several years.

Findings from these studies suggest that breast screening often improves after notification of BRCA1/BRCA2 mutation carrier status; nonetheless, screening remains suboptimal. Fewer studies have examined adoption of MRI as a screening modality, probably due to the recent availability of efficacy data. Screening for ovarian cancer varied widely across studies, and also varied based on type of screening test (i.e., CA 125 serum testing vs. transvaginal ultrasound (TVUS) screening). However, ovarian cancer screening does not appear to be widely adopted by BRCA1/BRCA2 mutation carriers. Uptake of RRM varied widely across studies, and may be influenced by personal factors (such as younger age or having a family history of breast cancer), psychosocial factors (such as a desire for reduction of cancer-related distress), recommendations of the health care provider, and cultural or health care system factors. Similarly, uptake of RRSO also varied across studies, and may be influenced by similar factors, including older age, personal history of breast cancer, perceived risk for ovarian cancer, cultural factors (i.e., country), and the recommendations of the health care provider.

Table 6. Uptake of Risk-Reducing Mastectomy (RRM) and/or Breast Screening (Mammography and/or Breast MRI)
Study Citation  Study Population  RRM  Breast Screening Mammography and/or Breast MRI   Length of Follow-up   Comments  
United States
[162] Carriers (N = 22)a Carriers 54% Not applicable 12 mo All participants had newly diagnosed breast cancer.
Noncarriers (N = 127)a Noncarriers 25%
[163] Carriers (N = 194)a, b Carriers 14.9% Mammography Mean 24.8 mo; range 1.6–66.0 mo Women opting for RRM were younger and had more family members with breast or ovarian cancer.
Carriers 93.4%
MRI
Not evaluated
[164] Carriers (N = 37)a Carriers 0% Mammography 24 mo
Carriers 57%
Noncarriers 49%
Noncarriers (N = 92)a Noncarriers 0% Declined test 20%
Declined testing (N = 15)a MRI
Not evaluated
[124] Carriers (N = 84)a Carriers 3% Mammography 12 mo Screening adherence in carriers was unchanged from baseline.
Carriers 68%
Noncarriers (N = 83)a Noncarriers 0% Noncarriers 44%
Declined test 54%
Declined testing (N = 49)a MRI
Not evaluated
International
[165] Carriers (N = 70)a Carriers 11% Mammography 3 y
Carriers 89%
MRI
Not evaluated
[166] Carriers (N = 34)a Carriers 9% Mammography 12 mo
Carriers 95%
Noncarriers 60%
Noncarriers (N = 34)a MRI
Not evaluated
[167] Carriers (N = 26)a Carriers 54% Not applicable 12 mo Carriers opting for RRM had higher levels of general and cancer-related distress.
Noncarriers (N = 37)a Noncarriers 0%
[168] Carriers (N = 68)b Carriers 51% Carriers 49% Median 21 mo; range 10–61 mo Carriers opting for RRM tended to be younger.
Data based on specific method(s) not reported.
[169] Carriers (N = 517)a Carriers 30% (unaffected) Not applicable Not provided Women with a sister with breast cancer were more likely to have an RRM.
249 participants had a personal history of breast cancer.
[170] Carriers (N = 2,677)a Carriers 18% (unaffected) Mammography 3.9 y; range 1.5–10.3 y Large differences in uptake of risk management options by country.
Carriers 87%
MRI
Carriers 31%
[171] Carriers (N = 537)c Carriers 21% Not Applicable Minimum 6 mo; median 36 mo

aSelf-report as data source.
bMedical records as data source.
cData source not specified.
MRI = magnetic resonance imaging.

Table 7. Uptake of Risk-Reducing Salpingo-Oophorectomy (RRSO) and/or Gynecologic Screening
Study Citation  Study Population   RRSO  Gynecological Screening  Length of Follow-up  Comments 
United States
[172] Carriers (N = 132)a BRCA1 BRCA1 Not provided Specific method(s) of gynecological screening not reported.
Carriers 33% Carriers 53%
Noncarriers (N = 410)a BRCA2 BRCA2
Carriers 41% Carriers 50%
Noncarriers 8% Noncarriers 76%
[173] Carriers (N = 79)a Carriers 27% CA 125 12 mo
Carriers 43%
Noncarriers 9%
Noncarriers (N = 44)a Uninformative 27%
TVUS
Uninformative (N = 166)a Carriers 40%
Noncarriers 21%
Uninformative 29%
[171] Carriers (N = 26)a Carriers 46% CA 125 24 mo
Carriers 37%
Noncarriers 5%
Noncarriers (N = 66)a Declined test 8%
TVUS
Declined testing (N = 12)a Carriers 11%
Noncarriers 2%
Declined test 8%
[170] Carriers (N = 179)a, b Carriers 50.3% CA 125 Mean 24.8 mo; range 1.6–66.0 mo Women undergoing RRSO were older and more likely to have a personal history of breast cancer.
Carriers 67.6%
TVUS
Carriers 72.9%
[124] Carriers (N = 39)a Carriers 13% CA 125 12 mo
Carriers 21%
TVUS
Carriers 15%
International
[162] Carriers (N = 70)a Carriers 29% CA 125 3 y
Carriers 0%
TVUS
Carriers 67%
[163] Carriers aged ≥35 years (N = 16)a Carriers aged ≥35 years 75% CA 125 12 mo Women undergoing RRSO were older and had higher ovarian cancer risk perception.
Not evaluated
Carriers aged <35 years (N = 12)a Carriers aged <35 years 8% TVUS
Carriers aged ≥35 years 100%
Carriers aged < 35 years 30%
[164] Carriers (N = 26)a Carriers 50% NA 12 mo
Noncarriers (N = 37)a
[165] Carriers (N = 45)b Carriers 64% Carriers 36% Median 24 mo; range 11–61 mo 83% of RRSOs were performed within 9 months of receiving test results.
Specific method(s) of gynecological screening not reported.
[174] Carriers (N = 160)a, b Carriers 64% Carriers 26% 12 mo Women undergoing RRSO had lower education levels, viewed ovarian cancer as incurable and believed strongly in the benefits of RRSO.
Specific method(s) of gynecological screening not reported.
[167] Carriers (N = 2,677)a Carriers 57% NA 3.9 y; range 1.5–10.3 y Large differences in uptake of risk management options by country.
[168] Carriers (N = 537)c Carriers 55% NA Minimum 6 mo; median 36 mo RRSO greatest in parous women aged >40 years.

aSelf-report as data source.
bMedical records as data source.
cData source not specified.
TVUS = transvaginal ultrasound.

On the other hand, many women found to be mutation carriers express interest in RRM in hopes of minimizing their risk of breast cancer. In one study of a number of unaffected women with no previous risk-reducing surgery who received results of BRCA1 testing following genetic counseling, 17% of carriers (2/12) intended to have mastectomies and 33% (4/12) intended to have oophorectomies.[79] In a later study of the same population, RRM was considered an important option by 35% of women who tested positive, whereas risk-reducing oophorectomy was considered an important option by 76%. Initial interest does not always translate into the decision for surgery. Two different studies found low rates of RRM among mutation carriers in the year following result disclosure, one showing 3% (1 of 29) of carriers and the other 9% (3/34) of carriers having had this surgery.[124,163] Among members from a large BRCA1 kindred, utilization of cancer screening and/or risk-reducing surgeries was assessed at baseline (before disclosure of results), and at 1 year and 2 years after disclosure of BRCA1 test results. Of the 269 men and women who participated, complete data were obtained on 37 female carriers and 92 female noncarriers, all aged 25 years or older. At 2 years after disclosure of test results, none of the women had undergone RRM, although 4 of the 37 carriers (10.8%) said they were considering the procedure. In contrast, of the 26 women who had not had an oophorectomy prior to baseline, 46% (12/26) had obtained an oophorectomy by 2 years after testing. Of those carriers aged 25 to 39 years, 29% (5/17) underwent oophorectomy, while 78% (7/9) of the carriers aged 40 years and older had this procedure.[171] In a study assessing uptake of risk-reducing surgery 3 months following BRCA result disclosure, 7 of 62 women had undergone RRM and 13 of 62 women had undergone RRSO. Intent to have an RRSO prior to testing correlated with procedure uptake. In contrast, intent to undergo RRM did not correlate with uptake. Overall, reasons given for indecision about risk-reducing surgery included complex testing factors such as the significance of family history in the absence of a mutation, concerns over the surgical procedure as well as time and uncertainty regarding early menopause and the use of hormone replacement therapy.[175] In a study of patients in the United Kingdom, data were collected during observations of genetic consultations and in semistructured interviews with 41 women following their attendance at genetic counseling.[176] The option of risk-reducing surgery was raised in 29 consultations and discussed in 35 of the postclinic interviews. Fifteen women said they would consider having an oophorectomy in the future, and nine said they would consider having a mastectomy. The implications of undergoing oophorectomy and mastectomy were discussed in postclinic interviews. Risk-reducing surgery was described by the counselees as providing individuals with a means to (a) fulfill their obligations to other family members and (b) reduce risk and contain their fear of cancer. The costs of this form of risk management were described by the respondents as:

  • Compromising social obligations.
  • Upsetting the natural balance of the body.
  • Not receiving protection from cancer.
  • Operative and postoperative complications.
  • The onset of menopause.
  • The effects of body image, gender, and personal identity.
  • Potential effects on sexual relationships.[176]

A number of women choose to undergo RRM and RRSO without genetic testing because:

  • Testing is not readily accessible.
  • They do not wish exposure to the psychosocial risks of genetic testing.
  • They do not trust that a negative genetic test result means they are not at increased risk.
  • They find any level of risk, even baseline population risk, unacceptable.[177,178]

Among first-degree relatives of breast cancer patients attending a surveillance clinic, women who expressed an interest in RRM and/or had undergone surgery were found to have significantly more breast cancer biopsies (P <.05) and higher subjective 10-year breast cancer risk estimates (P <.05) than women not interested in RRM. Cancer worry at the time of entry into the clinic was highest among women who subsequently underwent RRM compared with women who expressed interest but had not yet had surgery, as well as women who did not intend to have surgery (P <.001).[179] Few studies have evaluated the impact of BRCA1/2 test results on risk-reducing surgery decisions among women affected with breast cancer. A study evaluating predictors of contralateral RRM among 435 breast cancer survivors found that 16% had undergone contralateral RRM (in conjunction with mastectomy of the affected breast) prior to referral for genetic counseling and BRCA1/2 genetic testing.[180] Predictors of contralateral RRM prior to genetic counseling and testing included younger age at breast cancer diagnosis, more time since diagnosis, having at least one affected first-degree relative, and not being employed full-time. In the year following disclosure of test results, 18% of women who tested positive for a BRCA1/2 mutation and 2% of those whose test results were uninformative underwent contralateral RRM. Predictors of contralateral RRM after genetic testing included younger age at breast cancer diagnosis, higher cancer-specific distress prior to genetic counseling, and having a positive BRCA1/2 test result. In this study, contralateral RRM was not associated with distress at one year following disclosure of genetic test results.

Dutch women (n = 114) who had undergone unilateral or bilateral RRM with breast reconstruction between 1994 and 2002 were retrospectively surveyed to determine their satisfaction with the procedure.[181] Sixty-eight percent were either unaffected BRCA mutation carriers or at 50% risk of having a BRCA mutation in their family. Sixty percent of respondents indicated that they were satisfied with the procedure, 95% would opt for RRM again, and 80% would opt for the same reconstruction procedure. Less than half reported some perioperative or postoperative complications, ongoing physical complaints, or some physical limitations. Twenty-nine percent reported altered feelings of femininity following the procedure, 44% reported adverse changes in their sexual relationships, and 35% indicated that they believed their partners experienced adverse changes in their sexual relationship. Ten percent of women, however, reported positive changes in their sexual relationship following the procedure. Compared with patients who indicated satisfaction with this procedure, nonsatisfied patients were more likely to feel less informed about the procedure and its consequences, report more complications and physical complaints, feel that their breasts did not belong to their body, and indicate that they would not opt for reconstruction again. Those who reported a negative effect on their sexual relationship were more likely to:

  • Feel less informed.
  • Experience more physical complaints and limitations.
  • Express that their breasts did not feel like their own.
  • Be disinclined to opt for reconstruction again.
  • State that the surgery had not met their expectations.
  • Experience altered feelings of femininity and perceived adverse changes in their partner’s view of their femininity and their sexual relationship.

Discussion of risk-reducing surgical options may not consistently occur during pretest genetic counseling. In one multi-institutional study, only one-half of genetics specialists discussed RRM and RRSO in consultations with women from high-risk breast cancer families,[182,183] despite the fact that discussion of surgical options was significantly associated with meeting counselees’ expectations, and that such information was not associated with increased anxiety.[184]

Given the increased risk of ovarian cancer faced by women with a BRCA1 or BRCA2 mutation, those who do receive information about RRSO show wide variations in surgery uptake (27%-72%).[85,165,170,173,174,185] A study showed that clinical factors related to choosing RRSO versus surveillance alone are older age, parity of one or more, and a prior breast cancer diagnosis.[186] In this study, the choice of RRSO was not related to family history of breast or ovarian cancer. Hysterectomy was presented as an option during genetic counseling and 80% of women who underwent RRSO also elected to have a hysterectomy.

Cancer screening and risk-reducing behaviors

Data are now emerging regarding uptake and adherence to cancer risk management recommendations such as screening and risk-reducing interventions. Cancer screening adherence and risk-reduction behaviors as defined by the National Comprehensive Cancer Network Guidelines were assessed in a cross-sectional study of 214 women with a personal history (134) or family history (80) of breast or ovarian cancer. Among unaffected women older than 40 years, 10% had not had a mammogram or clinical breast examination (CBE) in the previous year and 46% did not practice breast self-examination (BSE). Among women previously affected with breast or ovarian cancer, 21% had not had a mammogram, 32% had not had a CBE, and 39% did not practice BSE.[187]

A prospective study from the United Kingdom examined the psychological impact of mammographic screening in 1,286 women aged 35 to 49 years who have a family history of breast cancer and were participants in a multicenter screening program. Mammographic abnormalities that required additional evaluation were detected in 112 women. These women, however, did not show a statistically significant increase in cancer worry or negative psychological consequences as a result of these findings. The 1,174 women who had no mammographic abnormality detected experienced a decrease in cancer worry and a decrease in negative psychological consequences compared to baseline following receipt of their results. At 6 months, the entire cohort had experienced a decrease in measures of cancer worry and psychological consequences of breast screening.[188]

A qualitative study explored health care professionals’ views regarding the provision of information about health protective behaviors (e.g., exercise and diet). Seven medical specialists and ten genetic counselors were interviewed during a focus group or individually. The study reported wide variation in the content and extent of information provided about health-protective behaviors and in general, participants did not consider it their role to promote such behaviors in the context of a genetic counseling session. There was agreement, however, about the need to form consensus about provision of such information both within and across risk assessment clinics.[189]

It is important to keep in mind that not all studies specify whether screening uptake rates fall within recommended guidelines for the targeted population or the specific clinical scenario, nor do they report on other variables that may influence cancer screening recommendations. For example, women who have a history of atypical ductal hyperplasia would be advised to follow screening recommendations that may differ from those of the general population.

Psychosocial Outcome Studies

Risk-reducing mastectomy

A prospective study conducted in the Netherlands found that among 26 BRCA1/2 mutation carriers, the 14 women who chose mastectomy had higher distress both before test result disclosure and 6 and 12 months later, compared with the 12 carriers who chose surveillance and compared with 53 nonmutation carriers. Overall, however, anxiety declined in women undergoing prophylactic mastectomy; at 1 year, their anxiety scores were closer to those of women choosing surveillance and to the scores of nonmutation carriers.[164] Interestingly, women opting for prophylactic mastectomy had lower pretest satisfaction with their breasts and general body image than carriers who opted for surveillance or noncarriers of BRCA1/2 mutations. Of the women who had a prophylactic mastectomy, all but one did not regret the decision at 1 year posttest disclosure, but many had difficulties with body image, sexual interest and functioning, and self-esteem. The perception that doctors had inadequately informed them about the consequences of prophylactic mastectomy was associated with regret.[164] At 5-year follow-up, women who had undergone RRM had less favorable body image and changes in sexual relationships, but also had a significant reduction in the fear of developing cancer.[87] In a study of 78 women who underwent risk-reducing surgery (including BRCA1/2 carriers and women who were from high-risk families with no detectable BRCA1/2 mutation), cancer-specific and general distress were assessed 2 weeks prior to surgery and at 6 and 12 months postsurgery.[190] The sample included women who had RRM and RRSO alone, as well as women who had both surgeries. There was no observable increase in distress over the 1-year period.

Mixed psychosocial outcomes were reported in a follow-up study (mean 14 years) of 609 women who received prophylactic mastectomies at the Mayo Clinic. Seventy percent were satisfied with prophylactic mastectomy, 11% were neutral, and 19% were dissatisfied. Eighteen percent believed that if they had the choice to make again, they probably or definitely would not have a prophylactic mastectomy. About three quarters said their worry about cancer was diminished by surgery. Half reported no change in their satisfaction with body image; 16% reported improved body image following surgery. Thirty-six percent said they were dissatisfied with their body image following prophylactic mastectomy. About a quarter of the women reported adverse impact of prophylactic mastectomy on their sexual relationships and sense of femininity, and 18% had diminished self-esteem. Factors most strongly associated with satisfaction with prophylactic mastectomy were postsurgical satisfaction with appearance, reduced stress, no reconstruction or lack of problems with implants, and no change or improvement in sexual relationships. Women who cited physician advice as the primary reason for choosing prophylactic mastectomy tended to be dissatisfied following prophylactic mastectomy.[191]

A study of 60 healthy women who underwent RRM measured levels of satisfaction, body image, sexual functioning, intrusion and avoidance, and current psychological status at a mean of 4 years and 4 months postsurgery. Of this group, 76.7% had either a strong family history (21.7%) or carried a BRCA1 or BRCA2 mutation (55%). Overall, 97% of the women surveyed were either satisfied (17%) or extremely satisfied (80%) with their decision to have RRM, and all but one participant would recommend this procedure to other women. Most women (66.7%) reported that surgery had no impact on their sexual life, although 31.7% reported a worsening sexual life, and 76.6% reported either no change in body image or an improvement in body image, regardless of whether reconstruction was performed. Worsening self-image was reported by 23.3% of women after surgery. Women’s mean distress levels after surgery were only slightly above normal levels, although those women who continued to perceive their postsurgery breast cancer risk as high had higher mean levels of global and cancer-related distress than those who perceived their risk as low. Additionally, BRCA1 and BRCA2 mutation carriers and women with a strong family history of breast and/or ovarian cancer had higher mean levels of cancer-related distress than women with a limited family history.[192]

Very little is known about how the results of genetic testing affect treatment decisions at the time of cancer diagnosis. Two studies explored genetic counseling and BRCA1/2 genetic testing at the time of breast cancer diagnosis.[193,194] One of these studies found that genetic testing at the time of diagnosis significantly altered surgical decision making, with more mutation carriers than noncarriers opting for bilateral mastectomy. Bilateral RRM was chosen by 48% of mutation-positive women [193] and by 100% of mutation-positive women in a smaller series [194] of women undergoing testing at the time of diagnosis. Of women in whom no mutation was found, 24% also opted for bilateral RRM. Four percent of the test decliners also underwent bilateral RRM. Among mutation carriers, predictors of bilateral RRM included whether patients reported their physicians had recommended BRCA1/2 testing and bilateral RRM prior to testing, and whether they received a positive test result.[193] Data are lacking on quality-of-life outcomes for women undergoing RRM following genetic testing performed at the time of diagnosis.

A prospective study from the Netherlands evaluated long-term psychological outcomes of offering women with breast cancer genetic counseling and, if indicated, genetic testing at the onset of breast radiation for treatment of their primary breast cancer. Of those who were approached for counseling, some underwent genetic testing and chose to receive their result (n = 58), some were approached but did not fulfill referral criteria (n = 118), and some declined the option of counseling/testing (n = 44). Another subset of women undergoing radiation therapy was not approached for counseling (n = 182) but was followed using the same measures. Psychological distress was measured at baseline and at 4, 11, 27, and 43 weeks after initial consultation for radiation therapy. No differences were detected in general anxiety, depression or breast cancer specific-distress across all four groups.[195]

A retrospective questionnaire study of 583 women with a personal and family history of breast cancer and who underwent contralateral prophylactic mastectomy between 1960 and 1993 measured overall satisfaction after mastectomy and factors influencing satisfaction and dissatisfaction with this procedure.[196] The mean time of follow-up was 10.3 years after prophylactic surgery. Overall, 83% of all participants stated they were satisfied or very satisfied, 8% were neutral, and 9% were dissatisfied with contralateral prophylactic mastectomy. Most women also reported favorable effects or no change in their self-esteem, level of stress, and emotional stability after surgery (88%, 83%, and 88%, respectively). Despite the high levels of overall satisfaction, 33% reported negative body image, 26% reported a reduced sense of femininity, and 23% reported a negative effect on sexual relationships. The type of surgical procedure also affected levels of satisfaction. The authors attributed this difference to the high rate of unanticipated reoperations in the group of women having subcutaneous mastectomy (43%) versus the group having simple mastectomy (15%) (P <.0001). Limitations to this study are mostly related to the time period during which participants had their surgery (i.e., availability of surgical reconstructive option).[196,197] None of these women had genetic testing for mutations in the BRCA1/2 genes. Nevertheless, this study shows that while most women in this group were satisfied with contralateral prophylactic mastectomy, all women reported at least one adverse outcome.

Another study compared long-term quality-of-life outcomes in 195 women following bilateral RRM performed between 1979 and 1999 versus 117 women at high risk for breast cancer opting for screening. No statistically significant differences were detected between the groups for psychosocial outcomes. Eighty-four percent of those opting for surgery reported satisfaction with their decision. Sixty-one percent of women from both the surgery and screening groups reported being very much or quite a bit contented with their quality of life.[198]

In a study of psychosocial outcomes associated with RRM and immediate reconstruction, 61 high-risk women (27 mutation carriers, others with high-risk family history), 31 of whom had a prior history of breast cancer, were evaluated on average 3 to 4 years after surgery.[199] The study utilized questions designed to elicit yes versus no responses and found that the surgery was well-tolerated with 83% of participants reporting that the results of their reconstructive surgery were as they expected, 90% reporting that they had received adequate preoperative information, none reporting that they regretted the surgery, and all reporting that they would choose the same route if they had to do it again. Satisfaction with the results ranged from 74% satisfied with the shape of their breasts to 89% satisfied with the appearance of the scarring. Comparison of this group to normative samples on quality–of–life indicators (SF-36; HAD scores) indicated no reductions in quality of life in these women.

A qualitative study examining material on the Facing Our Risk of Cancer Empowered (FORCE) Web site posted by 21 high-risk women (BRCA1/2 positive) undergoing RRM showed that these women anticipated and received negative reactions from friends and family regarding the surgery, and that they managed disclosure in ways to maintain emotional support and self-protection for their decision. Many of the women expressed a relief from intrusive breast cancer thoughts and worry, and were satisfied with the cosmetic result of their surgery.[200]

In contrast, another study examined long-term psychosocial outcomes in 684 women who had had bilateral or contralateral RRM on average 9 years prior to assessment.[201] A majority of women (59%) had reconstructive surgery as well. Interestingly, based on a Likert scale, 85% of women reported that they were satisfied or very satisfied with their decision to have an RRM. However, in qualitative interviews, a large number of women went on to describe dissatisfaction or negative psychosocial outcomes associated with surgery. The authors coded the responses as negative when women reported still being anxious about their breast cancer risk and/or reported negative feelings about their body image, pain, and sexuality. Seventy-nine percent of the women providing negative comments and 84% of those making mixed comments (mixture of satisfaction and dissatisfaction) responded that they were either satisfied or very satisfied with their decision. Twice as many women with bilateral mastectomy made negative and mixed comments than did women with contralateral mastectomy. The areas of most concern were body image, problems with breast implants, pain after surgery, and sexuality. The authors proposed that those who had undergone contralateral procedures had already been treated for cancer, while those who had undergone bilateral procedures had not been treated previously, and this may partially account for the differences in satisfaction between the two groups. These findings suggest that women's satisfaction with RRM may be tempered by their complex reactions over time.

Risk-reducing salpingo-oophorectomy

A retrospective self-administered survey of 40 women aged 35 to 74 years at time of RRSO (57.5% were younger than 50 years), who had undergone the procedure due to a family history of ovarian cancer through the Ontario Ministry of Health, found that RRSO resulted in a significant reduction in perceived ovarian cancer risk. Fifty-seven percent identified a decrease in perceived risk as a benefit of RRSO (35% did not comment on RRSO benefits) and 49% reported that they would repeat RRSO to decrease cancer risk. The overall quality-of-life scores were consistent with those published for women who are menopausal or participating in hormone studies.[202] Quality of life in 59 women who underwent RRSO was assessed at 24 months postprocedure.[203] Overall quality of life was similar to the general population and breast cancer survivors, with approximately 20% reporting depression. The 30% of subjects reporting vaginal dryness and dyspareunia were more likely to report dissatisfaction with the procedure.

A larger study assessed quality of life in women at high risk of ovarian cancer who opted for periodic gynecologic screening (GS) versus those who underwent RRSO. Eight hundred forty-six high-risk women, 44% of whom underwent RRSO and 56% of whom chose GS, completed questionnaires evaluating quality of life, cancer-specific distress, endocrine symptoms, and sexual functioning.[204] Women in the RRSO group were a mean of 2.8 ±1.9 years from surgery and women in the GS group were a mean of 4.3 years from their first visit to a gynecologist for high-risk management. No statistical difference in overall quality of life was detected between the RRSO and GS groups. When compared with the GS group, women who underwent RRSO had poorer sexual functioning and more endocrine symptoms such as vaginal dryness, dyspareunia, and hot flashes. Women who underwent RRSO experienced lower levels of breast and ovarian cancer distress and had a more favorable perception of cancer risk.

Interventions: Psychological

Several psychological interventions have been proposed for women who may have hereditary risk of breast cancer, but few of these have been rigorously tested. Issues faced by these women include the following:

  • Confronting the meaning of one’s risk status, as well as venting strong feelings of fear of harm, disfigurement, pain, or death.
  • Addressing guilt about passing on genetic risk or not doing enough for loved ones.
  • Managing stress, cancer-related worry, and intrusive thoughts.
  • Coaching in problem-solving.
  • Facilitating effective decision-making strategies and teaching positive, active coping behaviors.

Psychotherapy for women interested in prophylactic mastectomy is discussed in one report.[205] Another recommends rehearsal of affective state in the context of all potential outcomes of cancer genetic testing for BRCA1/2.[206] As genetic testing programs grow and the psychological outcomes and behavioral impact of testing are further defined, there will be an increasing demand for interventions to maximize the benefits of cancer genetic testing and minimize the risks to carriers and family members.

A randomized trial with 126 BRCA1/2 mutation carriers evaluated whether psychological and behavioral outcomes of BRCA1/2 testing are improved among mutation carriers by providing a psychosocial telephone counseling intervention in addition to standard genetic counseling.[207] The intervention consisted of five 60- to 90-minute telephone counseling sessions. The first session was a semistructured clinical assessment interview designed to allow the mutation carrier to describe her experiences and reactions to BRCA testing results. The second through the fourth telephone sessions were individualized to the concerns raised by the woman in the domains of making medical decisions, managing family concerns, and emotional reactions following receipt of a positive BRCA1/2 result. The final telephone session focused on integration and closure on the issues raised as well as implementing a plan for short-term and long-term goals established during the telephone intervention. Women most likely to complete the intervention were those who did not have a personal history of cancer; those who had higher levels of cancer-specific distress; those who were college graduates; and those who were employed. Outcome data from this study has not yet been reported.

A pilot study demonstrated the usefulness of a 6-session psychoeducational support group for women at high genetic risk of breast cancer who were considering prophylactic mastectomy. The themes for the group sessions included overestimation of and anxiety about risk, desire for hard data, emotional impact of watching a mother die of breast cancer, concerns about spouse reactions, self-image and body image, the decision-making process, and confusion over whom to trust in decision-making. Both the participants and the multidisciplinary leaders concluded that as a supplement to individual counseling, a support group is a beneficial and cost-effective treatment modality.[208]

Women who called the NCI's Cancer Information Service seeking information about breast or ovarian cancer risk, risk assessment, or cancer genetic testing, were randomly assigned to receive 1) general information about cancer risk and a referral to testing and counseling services or 2) an educational intervention designed to increase knowledge and understanding about inherited cancer risk, personal history of cancer, and the benefits and limitations of genetic testing. In the group receiving the educational intervention, intention to obtain genetic testing decreased among women at average breast cancer risk (as determined by the Gail model) and increased among women at high risk. Among average risk women, those in the intervention group identified as high monitors (i.e., those who seek and pay greater attention to threatening health-related information) demonstrated an increase in knowledge and breast cancer risk perceptions compared with low monitors (i.e., those who avoid attending to threatening health-related information).[209]

Behavioral Outcomes

A study [210] of screening behaviors of 216 self-referred, high-risk (>10% risk of carrying a BRCA1/2 mutation) women who are members of hereditary breast cancer families found a range of screening practices. Even the presence of known mutations in their families was not associated with good adherence to recommended screening practices. Sixty-nine percent of women aged 50 to 64 years and 83% of women aged 40 to 49 years had had a screening mammogram in the previous year. Twenty percent of participants had ever had a CA 125 test and 31% had ever had a pelvic or transvaginal ultrasound. Further analysis of this study population [210] looking specifically at 107 women with informative BRCA test results found good use of breast cancer screening, though the uptake rate in younger carriers is lower. The reason for the lower uptake rate was not explored in this study.[211] One survey of screening behaviors among women at increased risk of breast/ovarian cancer identified physician recommendations as a significant factor in adherence to screening.[212]

While motivations cited for pursuing genetic testing often include the expectation that mutation carriers will be more compliant with breast and/or ovarian screening recommendations,[26,28,210,213] limited data exist about whether participants in genetic testing alter their screening behaviors over time and about other variables that may influence those behaviors, such as insurance coverage and physician recommendations or attitudes. The impact of cancer genetic counseling on screening behaviors was assessed in a U.K. study of 293 women followed for 12 months postcounseling at four cancer genetics clinics.[214] BSE, CBE, and mammography were significantly increased after counseling; however, gaps in adherence to recommendations were noted: 38% of women aged 35 to 49 years had not had a mammogram by 12 months postcounseling. BSE was not done at the recommended time and frequency by most women.

This is a critical issue not only for women testing positive, but also for adherence to screening for those testing negative as well as those who have received indeterminate results or choose not to receive their results. It is possible that adherence actually diminishes with a decrease in the perceived risk that may result from a negative genetic test result.

In addition, while there is still some question regarding the link between cancer-related worry and breast cancer screening behavior, accumulating evidence appears to support a linear rather than a curvilinear relationship. That is, for some time, the data were not consistent; some data supported the hypothesis that mild-to-moderate worry may increase adherence, while excessive worry may actually decrease the utilization of recommended screening practices. Other reports support the notion that a linear relationship is more likely; that is, more worry increases adherence to screening recommendations. Few studies, however, have followed women to assess their health behaviors following genetic testing. Thus, a negative test result leading to decreased worry could theoretically result in decreased screening adherence. A large study found that patient compliance with screening practices was not related to general or screening-specific anxiety—with the exception of BSE, for which compliance is negatively associated with procedure-specific anxiety.[45] Further research designed to clarify this potential concern would highlight the need for comprehensive genetic counseling to discuss the need for follow-up screening.

Further complicating this area of research are issues such as the baseline rate of mammography adherence among women older than 40 or 50 years prior to genetic testing. More specifically, the ability to note a significant difference in adherence on this measure may be affected by the high adherence rate to this screening behavior before genetic testing by women undergoing such testing. It may be easier to find significant changes in mammography use among women with a family history of breast cancer who test positive. Finally, adherence over time will likely be affected by how women undergoing genetic testing and their caregivers perceive the efficacy of many of the screening options in question, such as mammography for younger women, BSE, and ovarian cancer screening (periodic vaginal ultrasound and serum CA 125 measurements), along with the value of preventive interventions.

The issue of screening decision-making and adherence among women undergoing genetic testing for breast and ovarian cancer is the subject of several ongoing trials, and an area of much needed ongoing study.

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