Legacies and Relationships: Diverse Social Networks and BRCA1/2 Risk Management Decisions and Actions.

In families with hereditary breast/ovarian cancer, complex disease histories challenge established patterns of family communication and influence decision-making for clinical surveillance, genetic testing, and risk management. An interdisciplinary team examined longitudinal interview data from women with identified BRCA1/2 mutations to assess interactions within family and social networks about risk information communication and management. We used interpretive description to identify motivation, content, and derived benefit of these interactions. Participants discussed risk information and management strategies with biological and nonbiological network members for multiple purposes: discharging responsibility for risk information dissemination, protecting important relationships, and navigating decision trajectories. Evolving interactions with loved ones balanced long-standing family communication patterns with differing personal preferences for privacy or open sharing, whereas interactions with nonbiological network members expanded participants' range of choices for sources of risk management information. Ongoing assessment of social networks may help support engagement with risk management by aligning with patient social needs.

Catalysts towards cancer risk management action: A longitudinal study of reproductive-aged women with BRCA1/2 mutations.

Deleterious mutations in BRCA1 or BRCA2 genes increase a woman's lifetime risk of breast and ovarian cancer. Risk management guidelines endorse early detection and prevention behaviors. Despite expressed intent, uptake of these measures remains low. This longitudinal, qualitative study integrated retrospective and prospective data to distinguish factors shaping intent to act from those that are catalysts to taking action to reduce cancer risk. Twelve BRCA1/2 mutation-positive women participating in the National Cancer Institute's Breast Imaging Study aged 18-35 completed two semi-structured interviews three years apart. Researchers completed focused coding to identify points of behavioral intent and action and contextual factors acting as catalysts upon participant narratives. All women shared only two action steps: seeking information about cancer risk and completing genetic testing. The constellation of action steps created a unique action trajectory that was defined, with precise ideas about risk perception and clear behavioral response, or iterative, in which unanticipated life events shifted the speed, accessibility, or order in which risk management and family planning goals were prioritized, planned, or executed. Factors shifting action steps included salient, unanticipated life events, such as infertility, insurance/financial constraints, birth of the last child, or a relative's cancer diagnosis. Focus on cancer morbidity may obfuscate how women prioritize actions, and ignore varied pragmatic, relational, and social factors affecting how intended actions are completed, particularly during the reproductive years. We recommend providers update patients' risk management plans at each visit to assess readiness for next steps and reduce reluctance to discuss, or guilt associated with, change.

Longitudinal cancer risk management trajectories of BRCA1/2 mutation-positive reproductive-age women.

Young women with BRCA1/2 mutations face difficult health-care decisions regarding family formation, fertility, breastfeeding, and whether/when to undergo cancer risk-reducing surgery. This longitudinal qualitative study investigated these life choices during the reproductive years. We conducted two semistructured interviews over three years with 12 reproductive-age BRCA1/2-positive women. Researchers coded transcripts to examine the evolution of risk perceptions, risk management, and family planning decisions. To cope with the conflict between cancer risk reduction versus plans for pregnancy, breastfeeding, and child rearing, participants deliberately prioritized either risk reducing surgery or family formation goals. Implications for mutation carriers and health-care providers are outlined.

A survey of genetic counselors about the needs of 18-25 year olds from families with hereditary breast and ovarian cancer syndrome.

As a result of modern treatments, the life of women who test positive for BRCA mutations may be plotted along the arc of preventive medicine rather than the slope of diagnostics. Despite evidence supporting the benefits of risk reduction, protocols for early detection and prevention among women from families affected by hereditary breast and ovarian cancer (HBOC) are not yet proven, and clinical trials have not been undertaken for patients aged 18 to 25. The absence of psychosocial data may leave genetic counselors without uniform guidance on how to manage the care of these patients. This project sought to investigate perspectives on counseling 18-25 year-old patients from families with hereditary cancer syndromes, with specific emphasis on HBOC, given their unique developmental, familial, and medical challenges. Certified genetic counselors were recruited through the NSGC's Cancer Genetics Special Interest Group listserv. Researchers constructed an online survey which included 41 items and elicited information about: counselor demographics, training, and practice settings; approaches to cancer risk assessment; and common challenges in work with 18- to 25-year-old patients. The survey was also informed by previous work by researchers with 18 to 25-year-olds with BRCA gene mutations. Eighty-six surveys were completed. Researchers used a combination of grounded theory and content analysis for open-ended responses, supported and triangulated with statistical analysis to maximize the interpretation of data. Genetic counselors who responded to this survey experience 18-25 year old patients presenting for cancer risk assessment differently than older patients, and some reported adapting their counseling style to address these differences. Respondents differed in the extent to which they felt well-versed in the developmental needs of patients in this age group. Respondents aged 39 and under reported feeling familiar with this stage in life, having more recently completed it; respondents aged 40 and over reported they were less familiar with, and more interested in learning about, this age group. A primary challenge in cancer risk assessment of these patients, reported primarily by counselors aged 39 and under, is navigating family dynamics in counseling sessions and addressing the developmentally labile young adult. With respect to BRCA-related cancer risk, where penetrance is incomplete, onset in early adulthood is rare. Evidence-based treatment/prevention options exist, but providers may not have clarity regarding how or when to provide directive counsel. A rich understanding of the themes inherent in how people grow and change over time might enhance the counselor's capacity to assess patients and their family members. The integration of a developmental approach to genetic counseling has the potential to reduce the imperative for non-directive counseling.

In their own words: treating very young BRCA1/2 mutation-positive women with care and caution.

PURPOSE: Young women who have been identified as carrying a deleterious mutation in BRCA1 or BRCA2 face a unique set of challenges related to managing cancer risk during a demographically-dense stage of life. They may struggle with decision-making in the absence of clear age-specific guidelines for medical management and because they have not yet fully developed the capacity to make life-altering decisions confidently. This study sought a patient-centered perspective on the dilemmas faced by 18-24 year olds who completed BRCA1/2 gene mutation testing prior to their 25(th) birthdays. PATIENTS AND METHOD: This study integrated qualitative data from three independent investigations of BRCA1/2-positive women recruited through cancer risk clinics, hospital-based research centers, and online organizations. All 32 participants were women aged 21-25 who tested positive for a BRCA1/2 gene mutation between 2 and 60 months prior to data collection. Investigators used techniques of grounded theory and interpretive description to conduct both within and cross-study analysis. RESULTS: Participants expressed needs for (1) greater clarity in recommendations for screening and prevention before age 25, especially with consideration of early and regular exposure to radiation associated with mammography or to hormones used in birth control, and (2) ongoing contact with providers to discuss risk management protocols as they become available. CONCLUSIONS: Health care needs during the young adult years evolve with the cognitive capacity to address abrupt and pressing change. Specific needs of women in this population include a desire to balance autonomous decision-making with supportive guidance, a need for clear, accurate and consistent medical recommendations. Optimally, these women are best cared for by a team of genetically-oriented providers as part of a sustained program of ongoing support, rather than seen in an episodic, crisis-driven fashion. A discussion of insurance issues and provider-patient cultural differences is presented.

A multi-case report of the pathways to and through genetic testing and cancer risk management for BRCA mutation-positive women aged 18-25.

Much of the extant literature addressing the psychosocial aspects of BRCA1/2 mutation testing and risk management aggregates mutation carriers of all ages in study recruitment, data analysis, and interpretation. This analytic strategy does not adequately address the needs of the youngest genetic testing consumers, i.e., women aged 18-25. Despite low absolute cancer risk estimates before age 30, BRCA1/2 mutation-positive women aged 18-25 feel vulnerable to a cancer diagnosis but find themselves in a management quandary because the clinical utility of screening and prevention options are not yet well defined for such young carriers. We present three cases, selected from a larger study of 32 BRCA1/2 mutation-positive women who completed or considered genetic testing before age 25, to demonstrate the unique developmental, relational and temporal influences, as well as the challenges, experienced by very young BRCA mutation-positive women as they complete genetic testing and initiate cancer risk management. The first case describes the maturation of a young woman whose family participated in a national cancer registry. The second addresses the experiences and expectations of a young woman who completed genetic testing after learning that her unaffected father was a mutation carrier. The third case highlights the experiences of a young woman parentally bereaved in childhood, who presented for genetic counseling and testing due to intense family pressure. Together, these cases suggest that BRCA1/2-positive women aged 18-25 are challenged to reconcile their burgeoning independence from their families with risk-related support needs. Loved ones acting in ways meant to care for these young women may inadvertently apply pressure, convoluting family support dynamics and autonomous decision-making. Ongoing support from competent healthcare professionals will enable these young women to remain informed and receive objective counsel about their risk-management decisions.

Anticipatory loss and early mastectomy for young female BRCA1/2 mutation carriers.

Young women who carry BRCA1/2 mutations face difficult decisions in managing their hereditary breast/ovarian cancer risk. Through this National Cancer Institute study, we sought to understand the process by which some young women choose risk-reducing bilateral mastectomy (RRBM) instead of alternative risk-management options. Data indicate that electing to undergo RRBM, although difficult, is experienced as a way to sidestep potentially devastating outcomes, such as stressful and costly high-risk screening, chemotherapy or radiation, or putting loved ones through the challenges of a cancer diagnosis. The decision to pursue RRBM is often the product of screening fatigue, encouragement from loved ones, and/or a sense of urgency to put one's high-risk period behind one. By understanding how young carriers make decisions about surgical risk reduction, providers can better guide, counsel, and support patients in the important tasks surrounding this life-changing medical decision, thereby helping to increase the duration and quality of their lives.

'Cancer doesn't have an age': genetic testing and cancer risk management in BRCA1/2 mutation-positive women aged 18-24.

Increasingly, 18-24-year-old women from hereditary breast/ovarian cancer (HBOC) families are pursuing genetic testing, despite their low absolute risks of breast and ovarian cancer and the fact that evidence-based management options used with older high-risk women are not generally available. Difficult clinical decisions in older carriers take on substantially more complexity and value-laden import in very young carriers. As a result, many of the latter receive highly personal and emotionally charged cancer risk information in a life context where management strategies are not well defined. We analyzed 32 in-depth interviews with BRCA1/2 mutation-positive women aged 18-24 using techniques of grounded theory and interpretive description. Participants described feeling vulnerable to a cancer diagnosis but in a quandary regarding their care because evidence-based approaches to management have not been developed and clinical trials have not been undertaken. Our participants demonstrated a wide range of genetic and health literacy. Inconsistent recommendations, surveillance fatigue, and the unpredictability of their having health insurance coverage for surgical risk-reducing procedures led several to contemplate risk-reducing mastectomy before age 25. Parents remained a primary source of emotional and financial support, slowing age-appropriate independence and complicating patient privacy. Our findings suggest that, for 18-24-year-olds, readiness to autonomously elect genetic testing, to fully understand and act on genetic information, and to confidently make decisions with life-long implications are all evolving processes. We comment on the tensions between informed consent, privacy, and the unique developmental needs of BRCA1/2 mutation-positive women just emerging into their adult years.

Toward a new understanding of risk perception among young female BRCA1/2 "previvors".

The quantitative risk of cancer among BRCA1/2 gene mutation carriers is generally well-understood, and can be communicated clearly to potential and known mutation carriers during the genetic risk assessment, education, and testing process. The extent to which individual mutation carriers feel vulnerable to cancer is a more complex dynamic with a powerful effect on risk-management decision-making; however, these decisions are not the products of straightforward personal assessment of one's quantitative probability of being diagnosed with cancer. We undertook this National Cancer Institute study to broaden understanding of the lived experiences of women who learn early in the life course that they carry a BRCA1/2 mutation. Our data indicate that the relationship between perceived risk and risk-management decisions is not direct, that is, several nononcologic components of risk are also integral to women's management decision-making. High-risk women commonly utilize self-perceived cancer risk to shape their decision-making and communication about various tasks of young adulthood, including differentiation from family of origin, establishing a permanent couple relationship, and family formation. Risk-management is also an important domain in which they strive to take control of their lives by actively participating in management choices. By understanding how these complex dynamics fit together, care providers can better guide, counsel, and support high-risk women as they struggle to balance legitimate risk-reduction needs with the desire to live a normal life. Here we present data from our qualitative research to aid in this effort.

Close ties: an exploratory Colored Eco-Genetic Relationship Map (CEGRM) study of social connections of men in Familial Testicular Cancer (FTC) families.

BACKGROUND: Testicular cancer, while rare compared with other adult solid tumors, is the most common cancer in young men in northern Europe and North America. Risk factors include white race, positive family history, contralateral testicular cancer, cryptorchidism, infertility and testicular microlithiasis. As the genetic causes of familial clusters (Familial Testicular Cancer or FTC) are being sought, it is also important to understand the psycho-social experiences of members of FTC families. METHODS: This is a cross-sectional examination via the Colored Eco-Genetic Relationship Map (CEGRM) of social connections reported by 49 men in FTC families participating in NCI research study 02-C-178. RESULTS: The CEGRM was acceptable and feasible for use with men in FTC families, and valuable in understanding their social connections. These men have largely adjusted to the TC history in themselves and/or their relatives. They have considerable social and emotional support from family and friends, although there is wide variability in sources and types. CONCLUSIONS: The CEGRM focuses on men's social connections and close emotional bonds in FTC families. This action-oriented process of placing colored symbols on significant relationships uncovered previously under-appreciated emotions accompanying men's social exchanges. Most men in FTC families succeed in re-establishing a sense of normalcy in their lives and social connections, in the aftermath of a testicular cancer diagnosis.

Unpacking the blockers: understanding perceptions and social constraints of health communication in hereditary breast ovarian cancer (HBOC) susceptibility families.

Family communication is essential for accurate cancer risk assessment and counseling; family blockers play a role in this communication process. This qualitative analysis of social exchanges is an extension of earlier work characterizing those who are perceived by study participants as health information gatherers, disseminators, and blockers within families with Hereditary Breast and Ovarian Cancer (HBOC) susceptibility. Eighty-nine women, ages 23-56 years, enrolled in a Breast Imaging Study (BIS) and participated in a sub-study utilizing a social assessment tool known as the Colored Ecological Genetic Relational Map (CEGRM). Purposive sampling ensured that participants varied according to numbers of participating family members e.g., ranging from 1 to 6. Eighty-nine women from 42 families (1-8 relatives/family) participated. They collectively designated 65 blockers, both male and female. Situational factors, beliefs, attitudes and cultural traditions, privacy and protectiveness comprised perceived reasons for blocking intra-family health communications. Longitudinal data collected over 4 years showed families where blocking behavior was universally recognized and stable over time, as well as other families where blocking was less consistent. Self-blocking was observed among a significant minority of participating women. Blocking of health communications among family members with HBOC was variable, complex, and multifaceted. The reasons for blocking were heterogeneous; duration of the blocking appeared to depend on the reasons for blocking. Blocking often seemed to involve bi-directional feedback loops, in keeping with Lepore's Social Constraints and Modulation Theory. Privacy and protectiveness predominated as explanations for long-term blocking.

Characteristics of health information gatherers, disseminators, and blockers within families at risk of hereditary cancer: implications for family health communication interventions.

OBJECTIVES: Given the importance of the dissemination of accurate family history to assess disease risk, we characterized the gatherers, disseminators, and blockers of health information within families at high genetic risk of cancer. METHODS: A total of 5466 personal network members of 183 female participants of the Breast Imaging Study from 124 families with known mutations in the BRCA1/2 genes (associated with high risk of breast, ovarian, and other types of cancer) were identified by using the Colored Eco-Genetic Relationship Map (CEGRM). Hierarchical nonlinear models were fitted to characterize information gatherers, disseminators, and blockers. RESULTS: Gatherers of information were more often female (P<.001), parents (P<.001), and emotional support providers (P<.001). Disseminators were more likely female first- and second-degree relatives (both P<.001), family members in the older or same generation as the participant (P<.001), those with a cancer history (P<.001), and providers of emotional (P<.001) or tangible support (P<.001). Blockers tended to be spouses or partners (P<.001) and male, first-degree relatives (P<.001). CONCLUSIONS: Our results provide insight into which family members may, within a family-based intervention, effectively gather family risk information, disseminate information, and encourage discussions regarding shared family risk.

Sisters in hereditary breast and ovarian cancer families: communal coping, social integration, and psychological well-being.

OBJECTIVE: We investigated the association between psychological distress and indices of social integration and communal coping among sisters from hereditary breast and ovarian cancer (HBOC) families. SAMPLE AND METHODS: Sixty-five sisters from 31 HBOC families completed the Brief Symptom Inventory-18 and the Colored Eco-Genetic Relationship Map, which identified members of participants' social support networks. Hierarchical linear models were used for all analyses to account for the clustering of sisters within families. RESULTS: Intra-family correlation coefficients suggested that sisters shared perceptions of breast cancer risk and worry, but not ovarian cancer risk and worry. Further, sisters demonstrated shared levels of anxiety and somatization, but not depressive symptoms. Communal coping indices quantifying shared support resources were negatively related to anxiety and somatization. The number of persons with whom cancer risk information was shared exhibited a positive trend with somatization. Social integration, as measured by the size of participants' emotional support network, was negatively associated with anxiety. Lower depression scores were observed among participants with more persons playing multiple support roles and fewer persons providing tangible assistance. CONCLUSION: Understanding how support relationships impact well-being among persons adjusting to HBOC risk, and the particular role of family in that process, will facilitate developing appropriate management approaches to help cancer-prone families adjust to their cancer risk.

Disclosure of Positive BRCA1/2-Mutation Status in Young Couples: The Journey From Uncertainty to Bonding Through Partner Support.

BRCA1/2-positive women who learn their mutation status early in the life-course face unique challenges related to navigating the tasks of young adulthood. Using qualitative methods and grounded theory, the authors analyzed in-depth interviews with 11 women aged 26 to 35 who learned their mutation status before marriage. Their narratives illustrate the complexity of relationship formation, and highlight the potential for relationship-bonding and intimacy-building in the course of sharing mutation information. Disclosing BRCA mutation status to dating partners is often preceded by feelings of fear and anxiety, yet many participants reported that doing so has positive effects on relationships. Partners' abilities to respond with interest, empathy, and affection are associated with in creased future intimacy, consistent with generally accepted principles within the family/couple systems field. Individual cancer risk perception and familial cancer experiences may affect the disclosure experience, which can be understood via Attachment Theory. Our findings provide clinical insight, identify new areas for research, and suggest ways to assist this unique population in their adjustment to being BRCA mutation-positive.

Evolution of the colored eco-genetic relationship map (CEGRM) for assessing social functioning in women in hereditary breast-ovarian (HBOC) families.

The CEGRM was initially conceived as a simple, concise, visual representation of the social interaction domains of information, tangible services and emotional exchanges (Kenen, R., & Peters, J. (2001). J Genet Counsel, 10, 289-309). A blend of the genetic pedigree, genogram, and ecomap, the CEGRM was developed to facilitate contemporary genetic counseling goals. An exploratory pilot study of 20 subjects showed that it was feasible, comfortable and efficiently accomplished, and that the process was useful both for assessment and as an intervention with study participants (Peters, J. A., Kenen, R., Giusti, R., Loud, J., Weissman, N., & Greene, M. H. (2004). Am J Med Genet Part A, 130A, 258-264). Subsequently, we have extended the CEGRM to 150 women from hereditary breast/ovarian cancer (HBOC) families; three different investigators have successfully administered this tool. The preliminary findings from the exploratory study were confirmed in the larger sample. Engaging in the interactive, insight-promoting CEGRM process provides a novel tool for assessing the social context of genetic testing, and helping high-risk women better understand and integrate genetic information into their personal and family identities, health beliefs, and decisions.