Intersectionality, BRCA Genetic Testing, and Intrafamilial Communication of Risk: A Qualitative Study.

Significant health disparities exist in relation to pathogenic variants in BRCA1/2. This study aimed to better understand the barriers and facilitators to BRCA1/2 genetic testing and intrafamilial communication of risk in racially and ethnically diverse individuals. We conducted qualitative interviews with non-Hispanic White (n = 11) and Black, Indigenous, People of Color (BIPOC) individuals (n = 14) who underwent testing for pathogenic BRCA1/2 variants. We employed template analysis, case study analysis, and comparative case study analysis to examine healthcare experiences related to genetic testing as well as intrafamilial communication of risk. Applying an intersectional lens, we sought to inform more person-centered approaches to precision healthcare and help dismantle disparities in genomic healthcare. Template analysis revealed salient factors at the individual (psychosocial well-being), interpersonal/familial, and healthcare system levels. A two-part case study analysis provided insights into how race/ethnicity, cultural norms, and socioeconomic status interact with systemic and structural inequities to compound disparities. These findings underscore the need for person-centered, tailored, and culturally sensitive approaches to understanding and addressing the complexities surrounding testing and the communication of BRCA risk. Applying an intersectional lens can inform more person-centered approaches to precision healthcare and may help to surmount existing disparities.

Racial and Ethnic Disparities in Genomic Healthcare Utilization, Patient Activation, and Intrafamilial Communication of Risk among Females Tested for BRCA Variants: A Mixed Methods Study.

This study aimed to gain a deeper understanding of genomic healthcare utilization, patient activation, and intrafamilial risk communication among racially and ethnically diverse individuals tested for BRCA variants. We employed an explanatory, sequential, mixed-methods study guided by the Theory of Planned Behavior. Participants completed an online survey, including sociodemographic, medical history, and several validated instruments. A subset of participants participated in in-depth, semi-structured interviews. A total of 242 women were included in the quantitative analyses. The majority of survey participants identified as non-Hispanic white (NHW) (n = 197, 81.4%) while 45/242 (18.5%) identified as black, Indigenous, and people of color (BIPOC). The NHW participants were more likely to communicate genetic test results with healthcare providers, family, and friends than BIPOC participants (p < 0.05). BIPOC participants had lower satisfaction with testing decisions and significantly higher ratings of personal discrimination, fatalism, resilience, uncertainty, and lower patient activation scores (p < 0.05). Participants with higher education, greater satisfaction with testing decisions, and lower resilience are more likely to communicate BRCA test results with family members through the mediating effect of patient activation. Bridging disparities to ensure that genomic healthcare benefits all people may demand theory-driven, multi-level interventions targeting the individual, interpersonal, and healthcare system levels.

Predicting Openness of Communication in Families With Hereditary Breast and Ovarian Cancer Syndrome: Natural Language Processing Analysis.

BACKGROUND: In health care research, patient-reported opinions are a critical element of personalized medicine and contribute to optimal health care delivery. The importance of integrating natural language processing (NLP) methods to extract patient-reported opinions has been gradually acknowledged over the past years. One form of NLP is sentiment analysis, which extracts and analyses information by detecting feelings (thoughts, emotions, attitudes, etc) behind words. Sentiment analysis has become particularly popular following the rise of digital interactions. However, NLP and sentiment analysis in the context of intrafamilial communication for genetic cancer risk is still unexplored. Due to privacy laws, intrafamilial communication is the main avenue to inform at-risk relatives about the pathogenic variant and the possibility of increased cancer risk. OBJECTIVE: The study examined the role of sentiment in predicting openness of intrafamilial communication about genetic cancer risk associated with hereditary breast and ovarian cancer (HBOC) syndrome. METHODS: We used narratives derived from 53 in-depth interviews with individuals from families that harbor pathogenic variants associated with HBOC: first, to quantify openness of communication about cancer risk, and second, to examine the role of sentiment in predicting openness of communication. The interviews were conducted between 2019 and 2021 in Switzerland and South Korea using the same interview guide. We used NLP to extract and quantify textual features to construct a handcrafted lexicon about interpersonal communication of genetic testing results and cancer risk associated with HBOC. Moreover, we examined the role of sentiment in predicting openness of communication using a stepwise linear regression model. To test model accuracy, we used a split-validation set. We measured the performance of the training and testing model using area under the curve, sensitivity, specificity, and root mean square error. RESULTS: Higher "openness of communication" scores were associated with higher overall net sentiment score of the narrative, higher fear, being single, having nonacademic education, and higher informational support within the family. Our results demonstrate that NLP was highly effective in analyzing unstructured texts from individuals of different cultural and linguistic backgrounds and could also reliably predict a measure of "openness of communication" (area under the curve=0.72) in the context of genetic cancer risk associated with HBOC. CONCLUSIONS: Our study showed that NLP can facilitate assessment of openness of communication in individuals carrying a pathogenic variant associated with HBOC. Findings provided promising evidence that various features from narratives such as sentiment and fear are important predictors of interpersonal communication and self-disclosure in this context. Our approach is promising and can be expanded in the field of personalized medicine and technology-mediated communication.

Impact of BRCA Status on Reproductive Decision-Making and Self-Concept: A Mixed-Methods Study Informing the Development of Tailored Interventions.

This mixed-methods study sought to deepen our understanding of self-concept and experiences in balancing cancer risk/reproductive decisions after learning of BRCA+ status. First, a quantitative survey of BRCA+ women (n = 505) examined the childbearing status, risk-reducing surgery, and self-concept. At the time of testing, 307/505 (60.8%) women were of reproductive age (<40 years-old), 340/505 (67.3%) had children, and 317/505 (62.8%) had undergone risk-reducing surgery. A younger age at the time of the testing was significantly associated with the decision to have children after learning BRCA+ status or undergoing risk-reducing surgery (p < 0.001). Compared to older women, BRCA+ women of reproductive age, exhibited a more negative self-concept with significantly higher vulnerability ratings (p < 0.01). Women with a cancer diagnosis exhibited a more negative mastery ratings and worse vulnerability ratings (p < 0.01) than women without a cancer history. Compared to childless counterparts, significantly higher vulnerability ratings were observed among BRCA+ women who had children before learning their BRCA status and/or undergoing risk-reducing surgery (p < 0.001). Subsequently, a subset of women (n = 40) provided in-depth interviews to explore their experiences in decision-making. The interviews provided insights into the effects of BRCA status on decisions regarding relationships, childbearing, cancer risk management, and communicating BRCA risk to children. Integrating quantitative and qualitative findings identifies targets for tailored interventions to enhance precision health for BRCA+ women of reproductive age.

Coping response and family communication of cancer risk in men harboring a BRCA mutation: A mixed methods study.

OBJECTIVE: Providing genetic counseling and genetic testing to at-risk blood relatives (cascade screening) is important for improving BRCA cancer outcomes. Intra-familial communication of risk is critical for cascade screening efforts yet relatively little is known about men's role in communicating BRCA risk. We sought to examine men's coping response to their BRCA status and intra-familial communication of risk to inform the development of tailored interventions that could promote cascade screening. METHODS: We employed a sequential mixed-methods design. First, we measured coping response (quantitative) using the Multidimensional Impact of Cancer Risk Assessment (MICRA). MICRA scores were compared between BRCA+ men, BRCA- men and BRCA+ women. Subsequently, we used template analysis to analyze qualitative interviews exploring coping and intra-familial communication of risk. The Theory of Planned Behavior (TPB) served as a guiding framework for identifying intervention targets. RESULTS: BRCA+ men (n = 36) had significantly higher levels of distress (p < 0.001), uncertainty (p < 0.001) and negative experiences (p < 0.05) compared to BRCA- male counterparts (n = 23). BRCA+ men had significantly lower distress (p < 0.001) and uncertainty (p < 0.001) than BRCA+ women (n = 406). Qualitative analysis of in-depth interviews with BRCA+ men (n = 35) identified promoters and barriers to active coping response and intra-familial communication of risk. Mapping results onto the TPB identified targets for tailoring person-centered approaches for men addressing beliefs/attitude, subjective norms, and perceived behavioral control. CONCLUSIONS: Men and women appear to have different coping responses to learning their BRCA status. Developing tailored (sex-based), theory informed interventions may help promote intra-familial communication of BRCA risk and support cascade screening.

Parent of Origin Effects on Family Communication of Risk in BRCA+ Women: A Qualitative Investigation of Human Factors in Cascade Screening.

Pathogenic germline variants in Breast Cancer 1/2 (BRCA) genes confer increased cancer risk. Understanding BRCA status/risk can enable family cascade screening and improve cancer outcomes. However, more than half of the families do not communicate family cancer history/BRCA status, and cancer outcomes differ according to parent of origin (i.e., maternally vs. paternally inherited pathogenic variant). We aimed to explore communication patterns around family cancer history/BRCA risk according to parent of origin. We analyzed qualitative interviews (n = 97) using template analysis and employed the Theory of Planned Behavior (TPB) to identify interventions to improve communication. Interviews revealed sub-codes of 'male stoicism and 'paternal guilt' that impede family communication (template code: gender scripting). Conversely, 'fatherly protection' and 'female camaraderie' promote communication of risk. The template code 'dysfunctional family communication' was contextualized by several sub-codes ('harmful negligence', 'intra-family ignorance' and 'active withdrawal of support') emerging from interview data. Sub-codes 'medical misconceptions' and 'medical minimizing' deepened our understanding of the template code 'medical biases'. Importantly, sub-codes of 'informed physicians' and 'trust in healthcare' mitigated bias. Mapping findings to the TPB identified variables to tailor interventions aimed at enhancing family communication of risk and promoting cascade screening. In conclusion, these data provide empirical evidence of the human factors impeding communication of family BRCA risk. Tailored, theory-informed interventions merit consideration for overcoming blocked communication and improving cascade screening uptake.

Parent of origin differences in psychosocial burden and approach to BRCA risk management.

We conducted a mixed-method study to examine coping response in BRCA+ women based on parent of origin (maternally vs paternally inherited BRCA mutation). Quantitative findings (n = 408) revealed paternally inherited cases had genetic testing later and were more likely to have a cancer diagnosis. Having a maternally inherited mutation was the strongest predictor of proactive risk management response. Qualitative interviews (n = 56) identified proactive responses among maternally inherited cases compared to reactive responses in paternally inherited cases. Findings underscore the importance of unbiased pedigree analysis to determine cancer risk. Women with paternally inherited BRCA mutations may benefit from additional psychosocial support.

The Pink Underside: The Commercialization of Medical Risk Assessment and Decision-Making Tools for Hereditary Breast Cancer Risk.

The growth of the Internet since the millennium has opened up a myriad of opportunities for education, particularly in medicine. Although those looking for health care information used to have to turn to a face-to-face doctor's visit, an immense library of medical advice is now available at their fingertips. The BRCA genetic predispositions (mutations of the BRCA1 and BRCA2 breast cancer genes) which expose men and women to greater risk of breast, ovarian, and other cancers can be researched extensively online. Several nonprofit organizations now offer online risk assessment and decision-making tools meant to supplement conversation with medical professionals, which in actuality are quickly replacing it. We argue here through a critical qualitative template analysis of several such tools that the discursive frameworks utilized are prone to fearmongering, commercialization, and questionable validity. Left unchecked, these assessment tools could do more harm than good in driving young women especially to take unnecessary extreme surgical action.

Within-Gender Differences in Medical Decision Making Among Male Carriers of the BRCA Genetic Mutation for Hereditary Breast Cancer.

An intersectional approach was used to understand sex/gender differences in men's health decisions with regard to hereditary breast cancer (BRCA). A sequential explanatory mixed method design was employed consisting of an online survey with a convenience sample of 101 men who tested positive for the breast cancer mutation following up with an in-depth interview with a subsample of 26 males who participated in the survey. The survey results revealed that 70.3% ( n = 45) considered "Family Risk" as the primary reason for getting BRCA tested; 21.9% ( n = 14) considered "Medical Considerations," and 7.8% ( n = 5) considered "Social Support" as their primary reason. Male participants who were 50 years old or younger or who did not have children were more likely to consider medical reasons as the primary reason to get tested. In terms of self-concept, younger men were more stigmatized than their older counterparts; married men felt a greater loss of control with regard to their BRCA-positive mutation diagnosis than single men; and professional men as a whole felt more vulnerable to the negative influences of the disease than those who had already retired. Regression analysis results indicated that negative self-concept was strongly related to sampled males' BRCA involvement 6 months after testing. Applying an intersectional approach to health care, decision-making outcomes among BRCA-positive mutation males provides an important lens for ascertaining the within-sex/gender demographic and psychosocial factors that affect the diversity of men's pretesting and posttesting medical decisions.

Doing Interdisciplinary Mixed Methods Health Care Research: Working the Boundaries, Tensions, and Synergistic Potential of Team-Based Research.

Current trends in health care research point to a shift from disciplinary models to interdisciplinary team-based mixed methods inquiry designs. This keynote address discusses the problems and prospects of creating vibrant mixed methods health care interdisciplinary research teams that can harness their potential synergy that holds the promise of addressing complex health care issues. We examine the range of factors and issues these types of research teams need to consider to facilitate efficient interdisciplinary mixed methods team-based research. It is argued that concepts such as disciplinary comfort zones, a lack of attention to team dynamics, and low levels of reflexivity among interdisciplinary team members can inhibit the effectiveness of a research team. This keynote suggests a set of effective strategies to address the issues that emanate from the new field of research inquiry known as team science as well as lessons learned from tapping into research on organizational dynamics.

Why so many "rigorous" evaluations fail to identify unintended consequences of development programs: How mixed methods can contribute.

Many widely-used impact evaluation designs, including randomized control trials (RCTs) and quasi-experimental designs (QEDs), frequently fail to detect what are often quite serious unintended consequences of development programs. This seems surprising as experienced planners and evaluators are well aware that unintended consequences frequently occur. Most evaluation designs are intended to determine whether there is credible evidence (statistical, theory-based or narrative) that programs have achieved their intended objectives and the logic of many evaluation designs, even those that are considered the most "rigorous," does not permit the identification of outcomes that were not specified in the program design. We take the example of RCTs as they are considered by many to be the most rigorous evaluation designs. We present a numbers of cases to illustrate how infusing RCTs with a mixed-methods approach (sometimes called an "RCT+" design) can strengthen the credibility of these designs and can also capture important unintended consequences. We provide a Mixed Methods Evaluation Framework that identifies 9 ways in which UCs can occur, and we apply this framework to two of the case studies.

Genetic Testing and Post-Testing Decision Making among BRCA-Positive Mutation Women: A Psychosocial Approach.

Through an analysis of an online survey of women who tested positive for the BRCA genetic mutation for breast cancer, this research uses a social constructionist and feminist standpoint lens to understand the decision-making process that leads BRCA-positive women to choose genetic testing. Additionally, this research examines how they socially construct and understand their risk for developing breast cancer, as well as which treatment options they undergo post-testing. BRCA-positive women re-frame their statistical medical risk for developing cancer and their post-testing treatment choices through a broad psychosocial context of engagement that also includes their social networks. Important psychosocial factors drive women's medical decisions, such as individual feelings of guilt and vulnerability, and the degree of perceived social support. Women who felt guilty and fearful that they might pass the BRCA gene to their children were more likely to undergo risk reducing surgery. Women with at least one daughter and women without children were more inclined toward the risk reducing surgery compared to those with only sons. These psychosocial factors and social network engagements serve as a "nexus of decision making" that does not, for the most part, mirror the medical assessments of statistical odds for hereditary cancer development, nor the specific treatment protocols outlined by the medical establishment.

Mixed Methods Research: The "Thing-ness" Problem.

Contemporary mixed methods research (MMR) veers away from a "loosely bounded" to a "bounded" concept that has important negative implications for how qualitatively driven mixed methods approaches are positioned in the field of mixed methods and overall innovation in the praxis of MMR. I deploy the concept of reification defined as taking an object/abstraction and treating it as if it were real such that it takes on the quality of "thing-ness," having a concrete independent existence. I argue that the contemporary reification of mixed methods as a "thing" is fueled by three interrelated factors: (a) the growing formalization of mixed methods as design, (b) the unexamined belief in the "synergy" of mixed methods and, (c) the deployment of a "practical pragmatism" as the "philosophical partner" for mixed methods inquiry.

The Genetic Testing Experience of BRCA-Positive Women: Deciding Between Surveillance and Surgery.

Little is known about how the breast cancer (BRCA) gene mutation affects women's decision-making processes. I use a feminist standpoint lens to explore the process by which BRCA-positive women came to socially construct and understand their risk for developing breast and/or ovarian cancer and the treatment options they elected post-testing. This study included in-depth interviews with 64 BRCA-positive mutation women, some of whom sought surveillance and others who opted for preventive surgical intervention. The in-depth analysis and case study approach revealed a complex cancer risk assessment resulting in a "nexus of decision making" that does not mirror a statistical medical model of risk assessment. The particular configuration of women's nexus of decision making impacted their pre- and posttesting BRCA experience as empowering or disempowering, regardless of whether they elected surgery or surveillance. I discuss the implications for development of clinical strategies that will serve to enhance women's pre- and post-BRCA decision making.