Participation in Breast Cancer Genetic Counseling: The Influence of Educational Level, Ethnic Background, and Risk Perception

Genetic counseling has been suggested as a means of providing information and support to women with a family history of breast cancer. Yet women who undergo cancer genetic counseling in the United States generally consist of only a subset of those at risk, namely well-educated, upper-middle class, European American and Jewish women. We report outcomes from a study that provided a unique opportunity to determine whether women of African American, European American, Native American, or Ashkenazi Jewish ancestry have varying interest in having cancer genetic counseling. The study offered a genetic counseling session to 97 women with a family history of breast cancer who were participating in a larger interview study designed to assess attitudes toward genetic testing for breast cancer. The study offered genetic counseling free of charge to all study participants with a family history of breast cancer, removing the potential barriers of cost, the need for a physician referral, and lack of awareness of genetic counseling. Fifty women out of the 97 women offered genetic counseling (52%) accepted the offer by completing a session. Those who accepted genetic counseling had a higher educational level, a higher perceived risk of breast cancer, and were more likely to expect a positive BRCA1 or BRCA2 genetic test if they were to undergo genetic testing. When controlling for education level, there was no correlation between the participants' ethnic background and acceptance of a genetic counseling session. Outreach efforts to minority populations may increase awareness of the availability of genetic counseling and may facilitate participation by such populations.     

Factors Influencing Perceptions of Breast Cancer Genetic Counseling among Women in an Urban Health Care System

The study assessed perceptions of breast cancer genetic counseling. Focus groups were conducted with twenty women (ages < = 50 years) in a Midwestern, urban health system identified as at above average risk of developing hereditary breast cancer and referred for breast cancer genetic counseling following mammography. All participants associated the words “breast cancer” with fear. African American women who received breast cancer genetic counseling may have channeled their fear into increased vigilance related to breast health. African American women who did not receive breast cancer genetic counseling were most knowledgeable about it. In contrast, Caucasian women who did not receive it reported uncertainty about the role of genetic counseling and testing in assessing breast cancer risk, mistrust in medical professionals, and lack of trust in the accuracy of genetic tests. The results could be used to help develop interventions to improve informed decision-making regarding breast cancer genetic counseling.     

Cancer Genetics Service Interest in Women with a Limited Family History of Breast Cancer

Women with a limited family history of breast cancer may be interested in cancer genetics information although their objective risk of breast cancer may not indicate routine referral to cancer genetics services. This study examined factors related to interest and use of cancer genetics services in a community sample of women with a limited family history of breast cancer (N = 187) who had no previous contact with cancer genetics services. Participants provided demographic information and ratings of perceived risk, cancer distress, attitudes, and intentions to initiate cancer genetics services. Participants were given information about a cancer genetics clinic that served women having concerns about their breast cancer risk. Women were contacted within 6 weeks and 8 months following their study appointment. Six weeks following their study appointment, 25% of women had initiated cancer genetics services. Eight months following their study appointment, 18% of women reported having completed a cancer genetics service appointment. Baseline intentions independently predicted both initiation at 6 weeks and appointment at 8 months. Cancer distress was positively associated with cancer genetics service initiation and appointment. Results suggest that some women with a limited family history of breast cancer are interested in seeking out cancer genetics information. Women with a limited family history of breast cancer may benefit from the availability of cancer genetics information provided through primary healthcare settings.     

Pre-counseling Education for Low Literacy Women at Risk of Hereditary Breast and Ovarian Cancer (HBOC): Patient Experiences Using the Cancer Risk Education Intervention Tool (CREdIT)

The Cancer Risk Education Intervention Tool (CREdIT) is a computer-based (non-interactive) slide presentation designed to educate low-literacy, and ethnically and racially diverse public hospital patients at risk of Hereditary Breast and Ovarian Cancer (HBOC) about genetics. To qualitatively evaluate participants’ experience with and perceptions of a genetic education program as an adjunct to genetic counseling, we conducted direct observations of the intervention, semi-structured in person interviews with 11 women who viewed CREdIT, and post-counseling questionnaires with the two participating genetic counselors. Five themes emerged from the analysis of interviews: (1) genetic counseling and testing for breast/ovarian cancer was a new concept; (2) CREdIT’s story format was particularly appealing; (3) changes in participants’ perceived risk for breast cancer varied; (4) some misunderstandings about individual risk and heredity persisted after CREdIT and counseling; (5) the context for viewing CREdIT shaped responses to the presentation. Observations demonstrated ways to make the information provided in CREdIT and by genetic counselors more consistent. In a post-session counselor questionnaire, counselors’ rating of the patient’s preparedness before the session was significantly higher for patients who viewed CREdIT prior to their appointments than for other patients. This novel educational tool fills a gap in HBOC education by tailoring information to women of lower literacy and diverse ethnic/racial backgrounds. The tool was well received by interview participants and counselors alike. Further study is needed to examine the varied effects of CREdIT on risk perception. In addition, the implementation of CREdIT in diverse clinical settings and the cultural adaptation of CREdIT to specific populations reflect important areas for future work.     

Experiences and Decisions that Motivate Women at Increased Risk of Breast Cancer to Participate in an Experimental Screening Program

Although the discovery of mutations on BRCA1 and BRCA2 genes associated with high breast cancer risk has given rise to screening and surveillance initiatives, there is little documentation on why high-risk women choose to enter screening programs. The objective of this qualitative study was to develop a detailed understanding of the experiences and decisions that motivate women with increased risk of hereditary breast cancer to participate in the multicentered Quebec experimental breast screening program. Our study involved 21 participants who were either BRCA carriers or at risk and untested. These women were interviewed while participating in the screening program. Our study demonstrates that intensive screening programs may provide valuable reassurance for women with increased familial risk of hereditary breast cancer, who count on early detection and rapid response from professionals if and when a problem arises. Health professionals must take these and others concerns into account to ensure their interventions are most consistent with women’s needs.     

Genetic Risk,Perceived Risk,and Cancer Worry in Daughters of Breast Cancer Patients

This study explored relationships between worry, perceived risk for breast cancer, consulting a genetic counselor, having genetic testing, and genetic risk for women whose mothers had breast cancer. Analyses involved data from a community-based phone survey of women whose mothers had breast cancer. Participants were categorized as having low, intermediate, or high genetic risk based on their reported family history, in accordance with an accepted classification scheme. The Lerman Breast Cancer Worry Scale measured worry, and participants reported their perceived lifetime likelihood of breast cancer, risk compared to others, and chance from 1 to 100. ANOVA, chi-square, and multiple regression analyses were conducted as appropriate. One hundred-fifty women participated. Mean age was 38 years, and 81% were Caucasian. Fifty-two women had low, 74 had intermediate, and 24 had high genetic risk for breast cancer. There were no significant differences in worry or perceived risk by hereditary risk category. Most high-risk women (91%) had not spoken with a genetic counselor, and no one had previous genetic testing. These findings suggest perceived risk, worry about breast cancer, and use of expert consultation do not match the genetic contribution to risk. There is a need for effectively stratifying and communicating risk in the community and providing tailored reassurance or referral for high-risk assessment.     

Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil

Hereditary breast cancer (HBC) accounts for 5–10% of breast cancer cases and it significantly increases the lifetime risk of cancer. Our objective was to evaluate the sociodemographic variables, family history of cancer, breast cancer (BC) screening practices and the risk profile of cancer affected or asymptomatic at-risk women that undergo genetic counseling for hereditary breast cancer in public Brazilian cancer genetics services. Estimated lifetime risk of BC was calculated for asymptomatic women using the Gail and Claus models. The majority of women showed a moderate lifetime risk of developing BC, with an average risk of 19.7% and 19.9% by the Gail and Claus models, respectively. The average prior probability of carrying a BRCA1/2 gene mutation was 16.7% and overall only 32% fulfilled criteria for a hereditary breast cancer syndrome as assessed by family history. We conclude that a significant number of individuals at high-risk for HBC syndromes may not have access to the benefits of cancer genetic counseling in these centers. Contributing factors may include insufficient training of healthcare professionals, disinformation of cancer patients; difficult access to genetic testing and/or resistance in seeking such services. The identification and understanding of these barriers is essential to develop specific strategies to effectively achieve cancer risk reduction in this and other countries were clinical cancer genetics is not yet fully established.     

Development of a Communication Aid to Facilitate Risk Communication in Consultations with Unaffected Women from High Risk Breast Cancer Families: A Pilot Study

The literature on risk perception in women from high-risk breast cancer families reveals persistent over-estimation of risk, even after counseling. In this study, a communication aid was designed to facilitate discussion of risk between clinical geneticists and genetic counselors and women from this high-risk population. Method: Stage 1. The aid was developed by an expert panel of clinical geneticists, genetic counselors, psychologists, an epidemiologist, an oncologist, linguists and a consumer. It was guided by the international literature on risk communication and a large multi-centre Australian study of risk communication. The 13 page full-color communication aid used varying formats of words, numbers, graphs and pie-charts to address (a) the woman’s subjective risk; (b) the population risk of breast cancer; c) the risk of inherited breast cancer; (d) the cumulative risk for women with BRCA1 and BRCA2 mutations; (e) family risk factors; (f) the woman’s suitability for genetic testing; (h) screening and management recommendations, and (i) a re-assessment of the woman’s subjective risk. Stage 2: A before–after pilot study of 38 women who were unaffected with breast cancer and were attending four Australian familial cancer clinics was undertaken. Baseline and follow-up questionnaires were completed by 27 women. Outcomes were compared to those observed in 107 similar women undergoing genetic counseling without the communication aid in 2001. Results: The risk communication aid appears to be beneficial; breast cancer genetics knowledge improved in some areas and importantly, risk perceptions improved in the cohort receiving the communication aid. Psychological measures showed no difference in anxiety or depression between the group receiving the communication aid and the comparison cohort. Women and clinicians were very positive about the usefulness of the communication aid as an adjunct to the genetic counseling consultation.     

Recommendation Recall and Satisfaction After Attending Breast/Ovarian Cancer Risk Counseling

This study examined women’s recall of physician recommendations as well as patient satisfaction following participation in a breast/ovarian cancer risk and prevention program. Participants were 41 high risk women who attended a cancer risk program 4–6 months earlier. Two-thirds of women who received recommendations for tamoxifen treatment and genetic testing did not recall these recommendations upon follow-up. A number of women misunderstood recommendations and a quarter of the sample recalled recommendations that were not made during the consultation. Although these high risk women were generally satisfied with their counseling visit, those individuals who received particularly complex sets of recommendations reported feeling less understood and were less satisfied with the counseling. Findings underline the importance of examining recommendation recall, in addition to perceptions of cancer risk, when evaluating the clinical implications of cancer risk assessment.     

Awareness,Perceptions, and Provider Recommendation Related to Genetic Testing for Hereditary Breast Cancer Risk among At-Risk Hispanic Women: Similarities and Variations by Sub-Ethnicity

This study explored awareness of risk factors for hereditary breast and ovarian cancer (HBOC), awareness, knowledge and concerns about genetic testing, and preference for how to have genetic testing recommended by a care provider among at-risk Hispanic women. Differences in these factors among Mexican, Cuban, and Puerto Rican women were also examined. Women with a personal or family history of breast or ovarian cancer from the Tampa Bay Area participated in a qualitative interview (N = 53). Data were analyzed using a combination of open and axial coding with a grounded theory approach. Study participants in all groups reported: being aware that family history was a breast cancer risk factor, limited knowledge of genetic testing, fear of test results, concerns about children’s risks, and no physician referral for genetic testing. Noteworthy sub-ethnic differences included preferences for physician recommendation and information about genetic testing. This study provides important preliminary information about areas related to HBOC that require additional education in the Hispanic community as a whole and by sub-ethnicity.     

Family Environments of Women Seeking BRCA1/BRCA2 Genetic Mutation Testing: An Exploratory Analysis

Although there is some understanding of the shared characteristics and predictors of psychological distress of women participating in hereditary breast and ovarian cancer registries, these same characteristics are only beginning to be identified in research on community women seeking genetic testing for BRCA1/BRCA2 gene mutations. This study provides an initial exploration of characteristics associated with family environments for 51 community women waiting to receive such genetic testing results. Thirty-four of the 36 women classified on family environment type of the Family Environment Scale (FES) were from Personal Growth-Oriented families. Comparisons of women with and without personal cancer histories resulted in a trend for women with personal cancer histories to be classified as from Independence-Oriented families. Reported distress appears to vary for different family emphases based on family and personal cancer history. A moral-religious family emphasis consistently appeared to be associated with decreased psychological distress. Preliminary analyses comparing these community women (who were not part of a hereditary registry but were self- or physician-referred) seeking genetic testing with normal and distressed family means found that increased cohesion and expressiveness may be related to decreased conflict, indicative of potentially supportive family environments for these women. When compared with normative data, a subset consisting of the Ashkenazi Jewish women showed a trend of less cohesion than normal families, but similar cohesion levels as distressed families.     

Life Events may Contribute to Family Communication About Cancer Risk Following BRCA1/2 Testing

We assessed whether certain life events contributed to the communication about cancer risk within families who have undergone BRCA1/2 testing. We also explored what type of resources participants would have valued to help in supporting family communication about genetic information. Two hundred and forty-six individuals (218 women, 28 men) who received a BRCA1/2 genetic test result 3 to 10 years earlier (mean of 6.4 years) participated in a telephone interview. Participants were asked about the occurrence of a number of life events (cancer diagnosis, death, uptake of prophylactic surgery, and providing care to a family member with cancer) in their family since their BRCA1/2 test result disclosure and, for each occurrence, whether it fostered family communication about cancer risk. A total of 182 participants (74 %) reported that they or one of their relatives received a cancer diagnosis, 176 (72 %) reported that someone died in their family, and 73 (30 %) stated that they or one of their relatives undertook a prophylactic surgery. During this period, 109 participants (44 %) also provided care for a family member who had cancer. Among participants who reported these life events, family communication was fostered by these events in proportions varying from 50 % (death) to 69 % (cancer diagnosis). Our results indicate that life events may contribute to family communication about cancer risk. Further research is needed to determine whether these events provide a “window of opportunity” to reach family members, address their needs and concerns about cancer, update family cancer history, and introduce genetic counseling and risk assessment.     

The Use of Family History Questionnaires: An Examination of Genetic Risk Estimates and Genetic Testing Eligibility in the Non-responder Population

The use of mailed family history questionnaires (FHQs) has previously been established to be an effective method for obtaining family history information for the triage of patients for genetic counseling and genetic testing of hereditary breast and ovarian cancer syndrome; yet only 53% of patients complete their FHQ within 6 months from the date of mailing (Armel et al. Journal of Genetic Counseling, 18(4):366–378, 2009). Although literature exists evaluating why women may not attend genetic counseling, no data are currently available examining genetic risk or genetic testing eligibility in the population of patients not returning their FHQ (non-responders). Concern exists that if non-responders are not followed-up for the purpose of triage for genetic counseling, individuals at high-risk for a hereditary cancer syndrome may be missed. This article explores the demographics of the non-responder population to assess genetic risk estimates for mutations in the BRCA1 and BRCA2 genes and genetic testing eligibility as compared to a responder population of patients who completed a mailed FHQ. A total of 430 pedigrees were obtained, 215 from non-responders and 215 from responders. Results of this study indicate that 69% of non-responders were either unreachable by telephone (42%), declined an appointment (19%), or were previously seen in another center for a genetic counseling visit (8%). Additionally, results indicate that non-responders are less likely to be eligible for genetic testing (40%) as compared to responders (57%) (p = 0.0004). Together these data shed light on a population of patients for which limited information exists and suggest that we question how and to what extent clinics should pursue non-responders, particularly in light of global reductions in health care funding.     

Women’s Experience of Telehealth Cancer Genetic Counseling

Telegenetics offers an alternative model of delivering genetic counseling to rural and outreach areas; however there is a dearth of qualitative research into the patient’s experience. Twelve women who had received telemedicine genetic counseling for hereditary breast and/or ovarian cancer (HBOC) within the previous 12 months participated in a semi-structured telephone interview. The interview explored women’s experience with telegenetics, satisfaction, perceived advantages and disadvantages and quality of the interaction with their genetic professionals. Overall women were highly satisfied with telegenetics. Telegenetics offered them convenience and reduced travel and associated costs. The majority of women described feeling a high degree of social presence, or rapport, with the off-site genetic clinician. One woman with a recent cancer diagnosis, reported that telemedicine was unable to meet her needs for psychosocial support. This finding highlights the need to be mindful of the psychosocial support needs of women with a recent diagnosis being seen via telegenetics. Patients attending for HBOC genetic counseling are generally highly satisfied with the technology and the interaction. Care should be taken, however, with patients with more complex psychosocial needs.     

Interest and Beliefs About BRCA Genetic Counseling Among At-Risk Latinas in New York City

Background: Latinas are less likely to use genetic services (counseling and testing) for hereditary breast and/or ovarian cancer risk compared to other ethnic groups. Meanwhile, little is known about barriers to genetic counseling among Latinas at increased risk of inherited breast cancer. Methods: A two-phase pilot study was conducted to examine interest, barriers and beliefs about BRCA genetic counseling among at-risk Latinas in New York City and explore the potential for developing a culturally-tailored narrative educational tool for use in future studies. Phase 1 included quantitative telephone interviews (N = 15) with bilingual participants with a personal diagnosis at a young age and/or family history of breast and/or ovarian cancer. Quantitative results informed development of a narrative prototype educational presentation viewed by a subset of participants (N = 10) in Phase 2 focus groups. Results: Despite barriers, including lack of awareness/knowledge, concerns related to learning cancer risks of family members, and concerns about cost/health insurance, participants reported positive attitudes, beliefs and interest in learning about BRCA genetic counseling. Further, significant increases in knowledge were demonstrated from pre-post presentation (p = 0.04). Conclusion: There is an unmet need to educate at-risk Latinas about BRCA genetic counseling. Culturally-tailored educational materials including narratives may increase knowledge about BRCA genetic counseling among this underserved group. The effectiveness of these approaches should be tested in future research with larger samples.     

The Effect of Genetic Counseling on Knowledge and Perceptions Regarding Risks for Breast Cancer

In 1994, a clinic for cancer risk counseling was opened at Hadassah University Hospital in Jerusalem. Most of the counselees have been women who had breast cancer and/or a relative with breast cancer. In order to evaluate the effect of this counseling on women's knowledge and perceptions regarding the risks for breast cancer, a questionnaire was given before and after the counseling session to 60 healthy women who came to the clinic because they have relatives with breast cancer. According to the genetic counselors' estimations, most of these women had a significantly increased risk (compared to the general population) of developing cancer. Before counseling, the women overestimated the population risk for breast cancer, the contribution of heredity to morbidity of cancer, and their own risks to get cancer. After counseling session, they gave reduced estimates, closer to the real ones. The subjective perceptions regarding these risks were reduced after counseling, except for the perceptions regarding their relativerisks which have not changed after the counseling. About 90% of the women who came to the clinic wanted to be tested for genetic predisposition to cancer. For most of these women, the expectations that the test can rule out a genetic predisposition to cancer became more realistic after the counseling. The option to first test an affected relative was offered to all families, and a test was actually conducted in 75% of the families.     

Breast and Ovarian Cancer: The Forgotten Paternal Contribution

Five to 10% of all cases of breast and ovarian cancer are attributed to a heritable genetic predisposition. Transmission of BRCA1 and BRCA2 mutations is equally likely through maternal or paternal lineage; however, fewer referrals to cancer genetics clinics appear to be made for a paternal, than maternal, family history of breast and/or ovarian cancer. To examine this potential bias, a retrospective review of 315 patient and family charts was conducted by one familial cancer clinic in Toronto, Canada. Referral letters, risk estimates, and family histories were analyzed to identify significant differences between patients referred with maternal and paternal family histories. It was determined that patients are approximately five times more likely to be referred with a maternal family history of breast and/or ovarian cancer as compared to those with a paternal family history (p = <.0001). Individuals with a paternal family history were found to have a different, and higher, pattern of risk estimates (p = .00064). No significant difference was seen between the type of referrals sent by general practitioners, oncologists, and gynecologists. Recommendations to increase the awareness of paternal family history in assessing cancer risk are provided.     

Cancer Risk Assessment and Genetic Counseling in an Academic Medical Center: Consultands' Satisfaction, Knowledge, and Behavior in the First Year

In 1995, we formally established a multifaceted cancer genetics program of clinical services, research, and education at a general academic medical center. In the first year, 58 families, mostly physician referred, received cancer risk assessment and genetic counseling for a family and/or medical history of cancer. The primary reasons for seeking consultation were to determine their risk or their offspring's risk for developing certain cancers and to inquire about the availability of DNA testing for predisposition to breast, ovarian, or colon cancers. To assess the level of satisfaction with program services, 51 consultands (22% with a personal history of cancer) were interviewed independently by telephone 3–12 months after the session. One goal of the survey was to improve program service. Ninety percent of respondents reported that the consultation was worth their time and money. Forty-two percent stated that their anxiety related to their cancer risk had decreased following counseling and 56% indicated no change. Recall of exact numerical risk was poor and one-third could not remember hearing any risk estimate. More respondents would recommend the service to friends (90%) than to family members (75%). Overall, the service was positively received by the majority of patients.     

Patient Satisfaction with Cancer Genetic Counseling: A Psychometric Analysis of the Genetic Counseling Satisfaction Scale

Satisfaction is an important patient reported outcome of genetic counseling, as it is one of the elements used by professional organizations and healthcare accrediting bodies to determine the quality of professional work. However, empirical research on patient satisfaction with genetic counseling has been limited, partly due to the lack of standardized measures available to assess this construct. The purpose of this study was to conduct a psychometric analysis of a new satisfaction measure, the Genetic Counseling Satisfaction Scale (GCSS), within a sample of women participating in a no-cost cancer genetic counseling and testing program. The sample consisted of 61 women undergoing counseling and testing for hereditary breast-ovarian cancer risk (BRCA1/2 testing) who completed the GCSS following pretest counseling. The results suggest that the GCSS was reliable (Cronbach's coefficient alpha = 0.90) and that participants were highly satisfied with the care they received. In addition, there were no differences in satisfaction between cancer genetic counseling and prenatal counseling participants (based on preexisting norms), and satisfaction did not vary by sociodemographic characteristics. Implications and recommendations are discussed.     

Knowledge and Expectations of Women Undergoing Cancer Genetic Risk Assessment: A Qualitative Analysis of Free-Text Questionnaire Comments

Individuals undergoing cancer genetic risk assessment have been found to have a poor understanding of the process, which may affect how well they cope with learning their risk. This paper reports free-text data from questionnaires completed by women undergoing a randomised controlled trial of a psychological intervention. Of the 268 women undergoing genetic assessment for familial breast/ovarian cancer risk who were invited to take part in the trial, 157 women returned research questionnaires. Of these, 97 women provided free-text comments upon referral to a cancer genetics clinic, 62 provided comments whilst waiting for risk information (average, moderate or high), and 36 women provided comments following notification of risk. This paper reports a thematic analysis of the free-text data. Themes reflected individuals’ poor knowledge and uncertainty about genetic risk assessment. How well individuals responded to learning their risk depended upon whether expectations had been met. Regardless of risk, individuals undergoing cancer genetic risk assessment are likely to benefit from increased information about its process and timescales, and access to increased psychological support. Free-text comments can provide valuable data about individuals’ expectations and knowledge of genetics services.