Negotiation of Health Risks and Risk Management for Young Adult BRCA1/2-Positive Women: Implications for Partnering and Family Formation

Abstract

In the mid-1990s, genetic testing was introduced for two breast and ovarian cancer predisposition genes: BRCA1 and BRCA2. For mutation carriers, lifetime risks of breast and ovarian cancer approach 90%, and 54%, respectively, versus general population risks of 12% and 2%. Women testing positive for mutations during young adulthood face numerous challenges related to navigating basic life course tasks, including establishing permanent couple relationships, family formation, and risk-management decision-making. These complex choices require young carriers to balance personal and family desires and provider recommendations for health maintenance and disease avoidance against their own desires/plans for personal, relationship, and family fulfillment. How they accomplish these tasks is significantly influenced by their experiences with cancer in close relatives, personal cancer risk assessment, and partner presence and support. Although the experience of older carriers and cancer survivors has been thoughtfully explored, little attention has been paid to the experiences of younger women. Using qualitative methods and grounded theory, I analyzed in-depth interviews with forty women aged 18-35 who knew themselves to be BRCA1/2-positive. Participants were recruited from: 1) an ongoing NCI Clinical Genetics Branch Breast Imaging Study; 2) the membership of FORCE, an online support network for mutation-positive individuals; and 3) snowball sampling, whereby participants referred others whom they knew to be mutation-positive. Using a semi-structured, open-ended interview format, participants were asked about family relationships and background; couple relationships; experiences and perceptions regarding family formation; and experiences and perceptions related to utilization of risk management strategies over time (i.e., surveillance, chemoprevention, risk-reducing surgery). Questions were developed using sensitizing concepts from the biopsychosocial perspective on health and illness and life course perspective, as well as attachment and feminist theories. Interviews were conducted by telephone, digitally recorded and transcribed, and analyzed using QSR N-Vivo software, version 8. The data-driven model indicates that risk perception and management decisions are closely tied to family and couple relationship experiences. Young mutation carriers aggressively and courageously utilize agency to alter their life trajectories while minimizing sacrifice to their family and relationship ideals, thereby freeing themselves from mutation-related emotional and physical constraints, and regaining control over their genetic destiny.