Why Is Cancer Genetic Counseling Underutilized by Women Identified as at Risk for Hereditary Breast Cancer? Patient Perceptions of Barriers Following a Referral Letter

Family history information comprises an important tool in identifying and referring patients at risk for hereditary breast and ovarian cancer (HBOC) to cancer genetic counseling. Despite recommendations and support provided by numerous professional organizations, cancer genetic counseling services are underutilized by atrisk patients. This study aimed to: (1) determine the rate of genetic counseling utilization following a referral letter, (2) characterize factors (barriers and supports) which influenced uptake of services, and (3) identify potential strategies for increasing utilization. This study evaluated the uptake of cancer genetic counseling among 603 screening mammography patients identified as having an increased risk for HBOC based on National Comprehensive Cancer Network (NCCN) guidelines. At risk individuals and their primary care providers were mailed a referral letter recommending genetic counseling. Three focus groups (N = 24) were conducted to identify responses to receiving a letter recommending genetic counseling, barriers to seeking genetic counseling, and facilitating factors to utilizing these services. Participant responses were qualitatively analyzed using thematic and cross case analysis. Within one year, 50/603 (8 %) of the identified at-risk women completed a genetic counseling appointment. Participant-perceived barriers which influenced their decision not to seek genetic counseling included lack of relevance and utility, limited knowledge about genetic counseling, concerns about the genetic counseling process, and concerns about cost and insurance coverage. Participant-perceived facilitating factors which would support a decision to seek genetic counseling included greater awareness and education about genetic counseling services when receiving a referral, and improved follow up and guidance from their provider. Findings from this study support the need for patient and primary care provider education, and improved provider-patient communication to increase uptake of genetic counseling services.     

Who Is at Risk for Psychological Distress in Genetic Testing Programs for Hereditary Cancer Disorders?

Presymptomatic identification of disease gene carriers is becoming an increasingly common part of the clinical management of hereditary cancer disorders. With an expected increase in the number of requests for DNA testing and the limited resources for counseling, the amount of time genetic counselors are able to spend with test candidates will decrease. It is therefore important for counselors to identify persons at risk for psychological distress. Based on a review of experiences with Huntington disease and cancer patients, we describe factors likely to evoke distress in genetic cancer candidates. We also discuss the sometimes widely different ways that test candidates and their partners respond to genetic testing. By exploring risk factors for distress in relevant domains of the research, we can offer counselors guidelines for determining who may need extra counseling.     

Life Trajectories, Genetic Testing, and Risk Reduction Decisions in 18–39 Year Old Women at Risk for Hereditary Breast and Ovarian Cancer

This qualitative study identified four life trajectories that influenced the decision in young women to have genetic testing for mutations in BRCA1/2 and subsequent risk reduction decisions after receiving a positive mutation result. Fifty nine women between the ages of 18–39 years were interviewed in this grounded theory study, 44 of those tested were found to have a mutation in either BRCA1 or BRCA2. Of those with a mutation, 23 had no history of cancer and 21 had a breast cancer diagnosis. Analysis of the 44 participants tested found that risk reducing decisions were related to the life trajectories that preceded genetic testing. These life trajectories included: 1) Long-standing awareness of breast cancer in the family, 2) Loss of one’s mother to breast cancer at a young age, 3) Expression of concern by a health care provider, and 4) Personal diagnosis of breast cancer. Understanding possible influences behind decision making for genetic testing and risk reduction in young women may assist health care providers in offering age appropriate guidance and support.     

African American Women’s Limited Knowledge and Experiences with Genetic Counseling for Hereditary Breast Cancer

Genetic counseling and testing for hereditary breast cancer have the potential benefit of early detection and early interventions in African American women. However, African American women have low use of these services compared to White women. We conducted two focus groups with African American women diagnosed with breast cancer (affected group, n?=?13) and women with at least one first-degree relative with breast/ovarian cancer (unaffected group, n?=?8). A content analysis approach was employed to analyze interview data. Breast cancer survivors had more knowledge about genetic counseling and testing than participants who were unaffected with cancer. However, knowledge about genetic counseling was limited in both groups. Barriers to pursuing genetic counseling and testing included poor understanding of the genetic counseling and testing process, fear of carrying the mutation, concerns about discrimination, and cost. Motivators to participate in genetic counseling and testing included desire to help family members, insurance coverage, and potential of benefiting the larger African American community. Education efforts are needed to increase genetic counseling and testing awareness in the African American community.     

Exploring Hereditary Cancer Among Dying Cancer Patients—A Cross-Sectional Study of Hereditary Risk and Perceived Awareness of DNA Testing and Banking

Hereditary cancer assessment at the end of life is a relatively unexplored area, but it could be critical for surviving family members. This study explored the prevalence of hereditary cancer among dying cancer patients and assessed patients’ perceived awareness of DNA testing and/or banking in a public access hospital. Palliative care patients with cancer from a single institution (or their medical-decision-making surrogates for patients unable to answer for themselves) completed structured interviews. Information was collected through medical records review and structured interviews for 43 dying cancer patients. Information for 9 patients was collected from surrogates. Nine patients (21%, 95% CI?=?8.8% to 33.1%) had strong genetic risk. Currently available genetic tests could have addressed this risk for several patients. None had previous genetic counseling, testing or DNA banking. Among strong-risk patients, about half of patients/surrogates had heard/read “almost nothing” about genetic testing (44%) and DNA banking (67%). Perceived genetic awareness was not associated with genetic risk, and neither were sociodemographic characteristics. The proportion of hereditary cancer may be at least as high in the palliative care population as in other clinical settings, but awareness and uptake among patients are low. These conditions are not being recognized upstream and families are losing valuable information.     

Spiritual Coping, Family History, and Perceived Risk for Breast Cancer—Can We Make Sense of it?

Differences in spiritual beliefs and practices could influence perceptions of the role of genetic risk factors on personal cancer risk. We explored spiritual coping and breast cancer risk perceptions among women with and without a reported family history of breast cancer. Analyses were conducted on data from 899 women in primary care clinics who did not have breast cancer. Structural equation modeling (SEM), linear, and logistic modeling tested an interaction of family history of breast cancer on the relationship between spiritual coping and risk perceptions. Overall analyses demonstrated an inverse relationship between spiritual coping and breast cancer risk perceptions and a modifying effect of family history. More frequent spiritual coping was associated with lower risk perceptions for women with positive family histories, but not for those with negative family histories. Results support further research in this area that could influence communication of risk information to cancer genetic counseling patients.     

Sources of Uncertainty About Daughters’ Breast Cancer Risk that Emerge During Genetic Counseling Consultations

Uncertainty is central to the experience of genetic decision making and counseling about cancer risk. Women seeking genetic counseling about their breast cancer risk may experience a great deal of uncertainty about issues related to their daughters. We used a theory of Communication and Uncertainty Management to guide analysis of sources of uncertainty about daughters that emerged during 16 video-recorded and transcribed conversations between mothers at risk for a BRCA 1/2 mutation and their genetic healthcare practitioners. An interpretive design and constant comparative method revealed three dominant patterns or themes representing sources of uncertainty mothers have relating to their daughters: disease risk, future cancer screening, and communication of related information to daughters. Both practitioners and mothers discussed these aspects of uncertainty. The findings identify the significant role uncertainty and familial concerns play in mothers’ genetic testing decision making process. To assist genetic practitioners, we highlight daughter-related concerns that mothers are uncertain about and which are vital to their genetic counseling needs.     

Women’s Decision Making about Risk-Reducing Strategies in the Context of Hereditary Breast and Ovarian Cancer: A Systematic Review

Women who have a mutation in the BRCA1 or BRCA2 genes have up to an 87% lifetime risk of breast cancer and up to a 40% lifetime risk of ovarian cancer. Cancer prevention and early detection strategies are often considered by these women to address this heightened risk. Risk-reducing strategies include risk-reducing mastectomy and oophorectomy, breast and ovarian cancer screening, and chemoprevention. This systematic literature review summarizes the factors and contexts that influence decision making related to cancer risk-reducing strategies among women at high-risk for hereditary breast and ovarian cancer. In the 43 published research articles reviewed, three main types of factors are identified that influence high-risk women’s decisions about risk-reducing strategies: a) medical and physical factors, b) psychological factors and c) social context factors. How these factors operate in women’s lives over time remains unknown, and would best be elucidated through prospective, longitudinal research, as well as qualitative research.     

Breast Cancer in Men: Emasculation by Association?

The occurrence of breast cancer in men is rare in comparison to women. Public knowledge that men can get breast cancer and of male breast self-examination are lacking. Research in the course and treatment of breast cancer in men is needed. Men generally present in more advanced stages of breast cancer than women, and have a poorer prognosis. In this article, the epidemiology, common symptoms, diagnostic methods, and current treatment of breast cancer in men are described. Gender differences in presentation and course of illness are discussed. Additionally, the psychological implications of breast cancer for male gender roles and masculine identity are explored. Directions for further investigation are given. Treatment providers are encouraged to educate themselves and their male patients on breast cancer in men and male breast examination techniques so that this disease may be identified earlier in its course and survival rates improved.     

Cancer Risk Counseling: How Is It Different?

Fifty-six of 80 (70%) full members of the National Society of Genetic Counselors with interest in cancer genetics responded to a 1994 survey regarding their cancer risk counseling practices. This study was undertaken to describe cancer risk counselors and the services they provide and to identify possible differences from general genetic counseling that warrant further study. Of 56 respondents, 41 (75%) were providing CRC. The components of CRC programs are described. Our results found significant differences between CRC and general genetic counseling in terms of training and experience of genetic counselors providing CRC and length and number of counseling sessions per consultand. 51% of respondents had 1–2 years of working in CRC, compared to 17% with 1–2 years experience in genetic counseling (p<0.05). Over one-third had 10 or more years genetic counseling experience. Counselors were more likely to see individuals at risk for cancer for longer counseling sessions (p<0.05) and for additional sessions (p<0.05).     

Counselees’ Expressed Level of Understanding of the Risk Estimate and Surveillance Recommendation are Not Associated with Breast Cancer Surveillance Adherence

We studied counselees’ expressed understanding of the risk estimate and surveillance recommendation in the final consultation for breast cancer genetic counseling in relation with their risk perception, worry and cancer surveillance adherence 1 year post-counseling. Consecutive counselees were included from 2008 to 2010. Counselees with an indication for diagnostic DNA-testing for themselves or a breast cancer affected relative were requested to complete online questionnaires before and after counseling and one year after counseling (N?=?152–124). Self-reported surveillance was compared to surveillance recommendations. Consultations were videotaped. Counselees’ reactions to the risks and recommendations were coded. Statements about the risk perception and surveillance intentions of breast cancer unaffected counselees were transcribed. Associations with outcomes were explored. Almost all breast cancer unaffected counselees (>90 %) reacted to their risk estimate with an utterance indicating understanding and this reaction was not significantly associated with their post-visit risk perception alignment. Over one-third (38.6 %) overestimated their risk post-counseling. Few counselees (5.8 %) expressed surveillance intentions. One year after counseling, about three-quarters (74.0 %) of the breast cancer unaffected counselees had adhered to the surveillance recommendation. Almost one-quarter (23.3 %) had performed more mammograms/MRI scans than recommended, which was associated with prior mammography uptake (n?=?47; X ² ?=?5.2; p?=?.02). Counselees’ post-counseling overestimation of their risk, high levels of worry and high surveillance uptake were not reflected in their reactions to the counselor’s information during the final visit.     

Whose Gene Is It? A Case Discussion About Familial Conflict over Genetic Testing for Breast Cancer

A multidisciplinary group of genetic and other professionals discuss a complex case of familial conflict over access to genetic information. One twin wishes to know the results of her deceased mother's tests for BRCA1 mutations; a second twin objects to researchers making this information available. As the case discussion unfolds, the apparent facts of this case are called into question and the lines of ethical certainty become less clear.     

Are Religious Women More Likely to Have Breast Cancer Screening?

The study objective was to investigate whether women who frequently attend religious services are more likely to have breast cancer screening—mammography and clinical breast examinations—than other women. Multivariate logistic regression models show that white women who attended religious services frequently had more than twice the odds of breast cancer screening than white women who attended less frequently (Odds Ratio (OR) = 2.61; 95% Confidence Interval (CI) = 1.12, 6.06). The behavior of white women was different from African American women (religious attendance-race interaction term p-value = 0.008); African American women who attended religious services frequently were possibly less likely to have breast cancer screening (OR 0.49; CI = 0.19–1.31).     

High-Risk Palliative Care Patients’ Knowledge and Attitudes about Hereditary Cancer Testing and DNA Banking

Even at the end of life, testing cancer patients for inherited susceptibility may provide life-saving information to their relatives. Prior research suggests palliative care inpatients have suboptimal understanding of genetic importance, and testing may be underutilized in this clinical setting. These conclusions are based on limited research. This study aimed to estimate genetic testing prevalence among high-risk palliative care patients in a National Cancer Institute-designated comprehensive cancer center. We also aimed to understand these patients’ understanding of, and attitudes toward, hereditary cancer testing and DNA banking. Palliative care in-patients with cancer completed structured interviews, and their medical records were reviewed. Among patients at high risk for hereditary cancer, we assessed history of genetic testing/DNA banking; and related knowledge and attitudes. Among 24 high-risk patients, 14 (58.3%) said they/their relatives had genetic testing or they had been referred for a genetics consultation. Of the remaining 10 patients, seven (70%) said they would “probably” or “definitely” get tested. Patients who had not had testing were least concerned about the impact of future testing on their family relationships; two (20%) said they were “extremely concerned” about privacy related to genetic testing. Of patients without prior testing, five (50%) said they had heard or read “a fair amount” about genetic testing. No high-risk patients had banked DNA. Overall, 23 (95.8%) said they had heard or read “almost nothing” or “relatively little” about DNA banking. Written materials and clinician discussion were most preferred ways to learn about genetic testing and DNA banking. Overall, this study demonstrates underutilization of genetics services at the end of life continues to be problematic, despite high patient interest.     

Quality of Life and Coping of Women Treated for Breast Cancer and Their Caregiver. What are the Interactions?

This longitudinal study analyzed the interactions between the quality of life and the coping strategies of 100 patients treated for breast cancer and their caregivers. Data were collected after diagnosis, at the end of treatment, and 6?months after treatment with the Quality of Life Questionnaire-C30 (QLQ-C30), Duke Health Profile and Ways of Coping Checklist for both patients and caregivers. The theoretical model was tested using a typology of patients and mixed model analyses. The quality of life of patients changed over time and no cluster effect was found. The influence of the sociodemographic characteristics, coping strategies (patients and caregivers) and the quality of life of caregivers on patient's quality of life were different according to the quality of life dimensions considered. To understand the adaptation of patients to their disease, it is therefore essential to look at whether the caregiver is capable of playing a supporting role.     

“The Cancer Bond”: Exploring the Formation of Cancer Risk Perception in Families with Lynch Syndrome

This study explores the social context of hereditary cancer risk perception in three families, an African-American family, a Mexican-American family, and a Caucasian family, each with Lynch Syndrome documented by a mismatch repair gene mutation. Communication network assessments measured family communication about cancer experiences and genetic testing information among a total of 26 participants. Participant narratives were evaluated to gain insight into how family cancer experiences and genetic testing information have shaped perceptions of cancer risk. Analysis of communication networks indicated that some families discussed cancer experiences to a greater extent than genetic testing information, and vice-versa. Interviews elucidated that sharing both types of health information led participants to conceptualize linkages among a strong family history of cancer, genetic testing information, and cancer prevention strategies. Understanding how different types of family communication influence the formation of perceived hereditary disease risk may enhance efforts to tailor genetic counseling services for families.