Qualitative Evaluation of Medical Information Processing Needs of 60 Women Choosing Ovarian Cancer Surveillance or Prophylactic Oophorectomy

Thirty women who had prophylactic oophorectomy (PO) and thirty women undergoing ovarian cancer surveillance (OCS) completed a one-time in-depth telephone interview exploring information gathering and decision-making processes. There were close similarities between groups, including age, race, marital status, education, menopausal status, number undergoing genetic testing for BRCA mutations, and number of prophylactic mastectomies. The majority of participants indicated overall satisfaction with their final decision. However, many described the information gathering process as frustrating and anxiety provoking. Participants in both groups expressed a need to process medical information within the context of individual psychosocial needs and personal perceptions and experiences. There were recurrent themes with regard to informational and psychosocial needs and personal perceptions and experiences that impacted decision-making process for these women. The present paper is a companion paper to Swisher et al. (J Repr Med 2001, 46:87–94) with the focus of this paper to illustrate the medical informational processing needs identified by this group of women.     

Knowledge of Breast Cancer Genetics Among Breast Cancer Patients and First-Degree Relatives of Affected Individuals

The cloning of BRCA1, a susceptibility gene for inherited breast cancer, has made genetic screening possible for individuals and families whose medical histories are suggestive of an inherited predisposition to breast cancer. To date, few systematic attempts have been made to determine the level of knowledge about breast cancer genetics among women who are likely to seek BRCA1 screening when it becomes widely available. The present study attempted to assess the general knowledge about BRCA1 mutations in two groups: (1) first-degree relatives (FDRs) of breast cancer patients; and (2) women with a previous diagnosis of breast cancer. A self-administered, thirty-item questionnaire was developed through a pilot study. Ten of the items were objective, factual questions about breast cancer genetics. Responses to these questions were used to generate an overall knowledge score for each respondent. The study population was moderately knowledgeable about breast cancer genetics, with an average score of 5.35 out of 10. Counselors should not underestimate the importance of evaluating each counselee's existing knowledge about breast cancer, which can affect the provision and reception of genetic information. In particular, specific areas of knowledge that may be confusing or misunderstood were identified and these topics are discussed in detail.     

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.     

Development of an Interactive Decision Aid for Female BRCA1/BRCA2 Carriers

Shared decision making between patients and providers is becoming increasingly common, particularly when there is no clear preferred course of action. As a result, decision aids are being adopted with growing frequency and have been applied to many medical decision-making issues. One such issue where there is uncertainty is breast cancer risk management among BRCA1/BRCA2 carriers. We present the development of a CD-ROM decision aid to facilitate risk management decision making in this population. Our decision aid was developed with the intention of providing it through a randomized clinical trial. The CD-ROM is a multimedia, interactive intervention which provides information about breast cancer, risks associated with BRCA1 and BRCA2 mutations, risk management options for hereditary breast cancer, and a breast cancer risk management decision aid. The goal of this CD-ROM, offered as an adjunctive intervention, is to reduce decisional conflict and psychological distress and improve comprehension of risk information, decisional satisfaction, medical adherence, and quality of life for this population of women at increased risk for breast cancer.     

Men’s Decision-Making About Predictive <Emphasis Type="Italic">BRCA1/2</Emphasis> Testing: The Role of Family

Men who have a family history of breast and/or ovarian cancer may be offered a predictive genetic test to determine whether or not they carry the family specific BRCA1/2 mutation. Male carriers may be at increased risk of breast and prostate cancers. Relatively little is known about at-risk men’s decision-making about BRCA1/2 testing. This qualitative study explores the influences on male patients’ genetic test decisions. Twenty-nine in-depth interviews were undertaken with both carrier and noncarrier men and immediate family members (17 male patients, 8 female partners, and 4 adult children). These explored family members’ experiences of cancer and genetic testing, decision-making about testing, family support, communication of test results within the family, risk perception and risk management. Implicit influences on men’s testing decisions such as familial obligations are examined. The extent to which other family members—partners and adult children—were involved in testing decisions is also described. It is demonstrated that mothers of potential mutation carriers not only perceive themselves as having a right to be involved in making this decision, but also were perceived by their male partners as having a legitimate role to play in decision-making. There was evidence that (adult) children were excluded from the decision-making, and some expressed resentment about this. The implications of these findings for the practice of genetic counseling are discussed.     

Experience of Norwegian Female BRCA1 and BRCA2 Mutation-Carrying Participants in Educational Support Groups: a Qualitative Study

Women identified as BRCA1 and BRCA2 mutation carriers are advised to manage their cancer risk through intensive screening programs and/or by undergoing risk-reducing surgery. The aim of this study was to explore and describe the experiences of female BRCA1/2 mutation carriers living with cancer risk and their experiences with participation in educational support groups (ESG). This qualitative study enrolled 17 (10 + 7) ESG participants in two different ESGs. The focus group interviews were performed immediately prior to and following two ESGs. The data were analyzed using John Knodel’s (1993) practical approach. Three main themes were identified; the women’s expectation and experience with ESG, the feeling of loneliness and isolation, and the feelings of living with “something else.” In this paper we have focused on one of the main themes- the women’s expectation and experience with ESG. This main theme presents four subthemes: the women’s need for unambiguous, clear and unified information from health professionals, the need for social support, the important role of the patient representative, and increased knowledge potentially raising concern. Participation in an ESG for women with BRCA1 and BRCA2 mutations can provide relevant information and support in the decision-making process related to risk-reducing surgery.     

Evaluation of a peer support program for women with breast cancer—lessons for practitioners

The present study aimed to describe how a volunteer peer support service assists women with breast cancer, and provides guidelines for practitioners in the development and implementation of such programmes. A two‐phase evaluation of a breast cancer peer support program was undertaken to describe important attributes of the peer support intervention, the impact of the volunteer visit on women's self‐reports of anxiety, and key indicators of a successful volunteer visit. Phase 1 included focus groups with 57 women previously treated for breast cancer. Phase 2 included a survey of 245 women also treated previously for breast cancer and visited by a Breast Cancer Support Volunteer. The key aspect of the peer support process was the bond of common experience leading to a decrease in social isolation, an increase in optimism about the future and reassurance about personal reactions and femininity. It is recommended that peer support programmes should aim to time support visits to coincide with the time when patient support needs are highest, that volunteers need to be recruited from a range of backgrounds and matched to patients most similar to them in way of life, and that peer support services should be embedded in a broad network of community support services. Copyright © 1999 John Wiley & Sons, Ltd.     

Patients’ Views of Treatment-Focused Genetic Testing (TFGT): Some Lessons for the Mainstreaming of <Emphasis Type="Italic">BRCA1</Emphasis> and <Emphasis Type="Italic">BRCA2</Emphasis> Testing

This paper explores patients’ views and experiences of undergoing treatment-focused BRCA1 and BRCA2 genetic testing (TFGT), either offered following triaging to clinical genetics (breast cancer) or as part of a mainstreamed care pathway in oncology (ovarian cancer). Drawing on 26 in-depth interviews with patients with breast or ovarian cancer who had undergone TFGT, this retrospective study examines patients’ views of genetic testing at this point in their care pathway, focusing on issues, such as initial response to the offer of testing, motivations for undergoing testing, and views on care pathways. Patients were amenable to the incorporation of TFGT at an early stage in their cancer care irrespective of (any) prior anticipation of having a genetic test or family history. While patients were glad to have been offered TFGT as part of their care, some questioned the logic of the test’s timing in relation to their cancer treatment. Crucially, patients appeared unable to disentangle the treatment role of TFGT from its preventative function for self and other family members, suggesting that some may undergo TFGT to obtain information for others rather than for self.     

“The Bigger the Network the Bigger the Bowl of Cherries...”: Exploring the Acceptability of,and Preferences for,an Ongoing Support Network for Known BRCA 1 and BRCA 2 Mutation Carriers

There is increasing evidence to suggest that the ongoing information and support needs of BRCA gene mutation carriers are not being met. This qualitative study investigated preferences for an on-going support network for mutation carriers in Wales, UK. Seventeen female BRCA1/2 mutation carriers participated in focus groups which explored their current and on-going information and psychological support needs. The interviews were transcribed and thematically analysed. The results reflected a diversity of experiences and support needs. The majority of participants felt they and their families would benefit from an on-going ‘support network’ which should incorporate information-provision alongside elements of a traditional support group alongside, internet-based support such as web-based chat forums, matching schemes and professionally led workshops. Some degree of professional input into any such initiative was believed to be important. This study has informed the development of an appropriate support network based on a hub and spoke model to help carriers and their families adapt to living and coping with their genetic risk.     

Communication Between Breast Cancer Patients Who Received Inconclusive Genetic Test Results and Their Daughters and Sisters Years After Testing

Inconclusive genetic test results including screening recommendations for the breast cancer patients and their first-degree relatives are the most common outcomes of BRCA 1/2 testing. Patients themselves should communicate these results to their relatives. Our aim was to explore communication of breast cancer genetic counseling results with daughters and sisters over a long period of time. Breast cancer patients, who had received an inconclusive DNA test result 7–14 years earlier, completed a self-report questionnaire. Additionally, in-depth interviews were conducted and analysed thematically. Of the 93 respondents, 85 (91 %) considered themselves responsible for communicating genetic test results to relatives. In-depth interviews (n?=?14) showed, that counselees wanted ‘to hand over’ their responsibilities to communicate the test results and screening recommendations to their sisters. Although most patients had informed their daughters and sisters about the genetic test results, usually little is spoken about genetic test results and screening recommendations once the duty of informing is completed. We recommend that, similar to the procedure for BRCA1/2-mutation carriers, a separate letter for first-degree relatives of patients with an inconclusive test result should be provided. In this way information about risks and screening recommendations can be verified by family members years after genetic testing has been completed.     

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.     

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.     

The development and analysis of tutorial dialogues in AutoTutor Lite

The goal of intelligent tutoring systems (ITS) that interact in natural language is to emulate the benefits that a well-trained human tutor provides to students, by interpreting student answers and appropriately responding in order to encourage elaboration. BRCA Gist is an ITS developed using AutoTutor Lite, a Web-based version of AutoTutor. Fuzzy-trace theory theoretically motivated the development of BRCA Gist, which engages people in tutorial dialogues to teach them about genetic breast cancer risk. We describe an empirical method to create tutorial dialogues and fine-tune the calibration of BRCA Gist’s semantic processing engine without a team of computer scientists. We created five interactive dialogues centered on pedagogic questions such as “What should someone do if she receives a positive result for genetic risk of breast cancer?” This method involved an iterative refinement process of repeated testing with different texts and successively making adjustments to the tutor’s expectations and settings in order to improve performance. The goal of this method was to enable BRCA Gist to interpret and respond to answers in a manner that best facilitated learning. We developed a method to analyze the efficacy of the tutor’s dialogues. We found that BRCA Gist’s assessment of participants’ answers was highly correlated with the quality of the answers found by trained human judges using a reliable rubric. The dialogue quality between users and BRCA Gist predicted performance on a breast cancer risk knowledge test completed after exposure to the tutor. The appropriateness of BRCA Gist’s feedback also predicted the quality of answers and breast cancer risk knowledge test scores.     

Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers

Women with a germline pathogenic variant in the BReast CAncer susceptibility genes (BRCA1 or BRCA2) have an increased risk of early-onset breast and ovarian cancer. In addition to weighing cancer screening and risk-reduction options, healthy BRCA mutation carriers of childbearing age may choose to preclude passing the mutation to the next generation. In the current study, we report on preimplantation genetic diagnosis (PGD) practices in BRCA-positive Israeli women who were offered PGD at no cost. Methods: we measured PGD uptake, decision satisfaction or regret, and predictors of uptake. Of the 70 participant female carriers, only 25.7% chose to use PGD to prevent transmission of the mutation, and were not predicted by age or religious affiliation. For those who chose IVF/PGD, satisfaction with the decision regarding IVF and PGD was significantly higher than those who did not have IVF and PGD (p?<?0.04). Experiencing previous infertility was the only significant predictor of uptake of IVF/PGD (p?<?0.001), which may suggest that BRCA status is secondary to infertility in the decision-making process for PGD in women with a BRCA mutation.     

“I Am Uncertain About What My Uncertainty Even Is”: Men’s Uncertainty and Information Management of Their BRCA-Related Cancer Risks

Men with a germline pathogenic BRCA1 or BRCA2 variant have increased risks for developing breast, pancreatic, prostate, and melanoma cancers, but little is known about how they understand and manage their cancer risks. This study examines how men with BRCA-related cancer risks manage uncertainty and information about their risks. Twenty-five men who were either a BRCA carrier or have a BRCA-positive first-degree family member that put the participant at 50% chance of also being a BRCA carrier were interviewed for this study. Using uncertainty management theory as a theoretical framework, this study demonstrates that men manage uncertainty by seeking information from female family members, websites, and healthcare providers, and are under-informed about their cancer risks. Further, in handling their information, men prefer information about cancer risk percentages and screening recommendations in the form of lists presented to them via websites, printed literature, proactive healthcare providers, and an identifiable male spokesperson. Finally, men used BRCA-related cancer risk information to make decisions about whether or not to engage in screening and prevention, manage their BRCA-related cancer risks, and overall family well-being—yet often at the expense of their own individual risks. Implications for genetic counseling and family conversations are discussed.     

Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit

The identification of patients at risk for breast cancer by genetic testing has proven to reduce breast cancer mortality. In 2010, due to a lack of systematization in hereditary cancer assistance in our center, we implemented a multidisciplinary Heredofamilial Cancer Unit (HFCU). We analyze if the HFCU improved the rates of referrals and preventive management of breast cancer patients with genetic risk. We retrospectively compared family history records, referrals of high-risk patients to genetic counseling, and detection and management of patients with BRCA1/2 mutations in two cohorts of breast cancer patients diagnosed before (first period: 2007–2010) and after the creation of the HFCU (second period: 2010–2013). In the first period, 893 patients were included, and 902 were included in the second. Due to the inability to establish their genetic risk, 142 patients (15.9%) vs. 70 (7.8%) were excluded from analysis (p?<?0.001). Among the evaluable patients, 194 (25.8%) vs. 223 (26.8%) fulfilled one or more risk criteria (p?=?0.65). Family history documentation in patient’s medical records (92.4 vs. 97.8%, p?<?0.001) and referral rate (26.3 vs. 52%, p?<?0.0001) significantly increased in the second period. Eight BRCA1/2 mutations were detected among patients referred in the first period and 17 among those referred to the HFCU. The rate of preventive surgeries in patients with BRCA mutations significantly increased in the second period (25 vs. 76.5%, p?=?0.03). In conclusion, there was a clear improvement in family history records, referrals, and preventive surgeries in breast cancer patients with genetic risk after the implementation of the HFCU.     

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.     

Communicating BRCA1/2 genetic test results within the family: a qualitative analysis

Genetic testing for BRCA1/2 mutations associated with hereditary breast and ovarian cancer reveals significant risk information about one's chances of developing cancer. It is important to study communication processes in families where members are undergoing genetic testing because the information received is crucial not just to the individual concerned but also to other members of the biological family. This study investigates family communication of BRCA1/2 test results from both the informants' and recipients' perspectives. A total of 10 female patients and 22 of their relatives were interviewed. Patients' and their relatives described feelings of responsibility for sharing genetic information within the family to enable others to reduce their risks of developing cancer. However, there were limits to an individuals' responsibility once key family members had been informed, who then had to take responsibility for continuing dissemination of information. Whilst there was an implicit responsibility to inform the family of a mutation, information was edited or withheld in the best interest of relatives, dependent upon their perceived emotional readiness, resilience and current life stage and circumstances. The pre-existing family culture and the impact previous cancer diagnoses had upon the family also influenced the process of communication. Findings are discussed in relation to extant literature and implications for clinical practice are considered.     

The Decision to Test in Women Receiving Genetic Counseling for BRCA1 and BRCA2 Mutations

Functions of genetic counseling include provision of risk information and provision of support in an effort to assist with decision making. This study examines (1) the relationship among intentions to test, self-reported provision of blood sample, and receipt of test results; (2) the impact of genetic counseling on distress specific to gene status, perceived risk of developing breast and ovarian cancer in the context having BRCA1/2 mutations (mutations predisposing to increased risk of breast-ovarian cancer), and perceived risk factors for breast cancer; and (3) the clinical profile of those receiving/not receiving results. Intentions to test for BRCA1/2 mutations, self-reported provision of blood sample immediately after counseling, and receipt of test results were statistically different but highly correlated, and intentions to test increased from pre- to postcounseling. A repeated measures ANOVA found distress specific to gene status and perceived risk factors decreased from pre- to postcounseling. Further, two clinical profiles of consultands emerged: (1) those receiving results with change in intentions to test having lower levels of distress and (2) those not receiving results and those receiving results with no change in intentions to test with higher levels of distress. Our findings are consistent with the function of genetic counseling-to provide information and support to those with familial cancer, as well as to assist in decision making. The provision of support is important as distress specific to gene status may impede flexible decision making about genetic testing.     

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.