Significant health disparities exist in relation to pathogenic variants inBRCA1/2. This study aimed to better understand the barriers and facilitators toBRCA1/2genetic 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 pathogenicBRCA1/2variants. 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 ofBRCArisk. Applying an intersectional lens can inform more person-centered approaches to precision healthcare and may help to surmount existing disparities.
在BRCA1/2致病性变异方面存在显著的健康差异。本研究旨在深入了解不同种族和族裔个体在BRCA1/2基因检测及家庭内部风险沟通中面临的障碍与促进因素。我们对接受BRCA1/2致病性变异检测的非西班牙裔白人（11例）及黑人、原住民和其他有色人种（14例）进行了定性访谈。采用模板分析、个案研究和比较案例分析等方法，系统考察了与基因检测相关的医疗体验及家庭内部风险沟通模式。通过交叉性理论视角，我们致力于为精准医疗提供更具个体中心性的实践路径，助力消除基因组医疗领域的健康差异。模板分析揭示了个人（心理社会福祉）、人际/家庭及医疗系统三个层面的关键影响因素。两部分组成的案例分析深入阐释了种族/族裔、文化规范和社会经济地位如何与系统性及结构性不平等相互作用，从而加剧健康差异。这些发现强调，需要采用以个体为中心、量身定制且文化敏感的方法来理解和应对BRCA检测及风险沟通的复杂性。运用交叉性视角可为精准医疗提供更具人文关怀的实践路径，并有望帮助克服现存的健康差异。
Intersectionality,BRCAGenetic Testing, and Intrafamilial Communication of Risk: A Qualitative Study
肿瘤(癌症)患者之家