Our Children, Ourselves: How BRCA Mutation Carriers of Reproductive Age Understand Inheritance

BACKGROUND: Gene alterations linked to Hereditary Breast and Ovarian Cancer (HBOC) predispose entire bloodlines to extraordinary medical risks. Innovation in assisted reproductive technology enables patients of reproductive age to mitigate many of these risks as they plan for children. Pre-implantation genetic diagnosis (PGD), which requires in vitro fertilization (IVF) technology, allows prospective parents to select embryos for transfer that do not carry the BRCA gene alteration. Yet, PGD presents novel medical, psychosocial, ethical and existential challenges to patients and to their children. Among these challenges is navigating the meaning and complexity of genetic inheritance as participants consider the varied risks associated with pursuing, or not pursuing, PGD. This presentation will explore understandings, beliefs, and constructions of inheritance for BRCA gene alteration carriers of reproductive age, as expressed in the context of a larger project investigating the perceived value of PGD to screen an embryo for the presence of a BRCA gene alteration.

METHOD: 32 BRCA mutation carriers of reproductive age completed a brief, standardized educational presentation on PGD and prenatal diagnosis (PND) followed by an in-depth, semi-structured interview addressing attitudes towards the use of PGD/PND to screen for BRCA status. Participants completed pre-test and post-test questionnaires before and after the educational module to assess awareness (pre) and understanding of core concepts (post). A team of qualitative research experts analyzed interview data using grounded theory techniques to arrive at core themes about the ways patients create meaning of the gene alteration in the overall context of their genetic profile, especially in relation to their family lineage and their partner's genetic strengths and challenges ("I'm dragging down his perfect genetic record with my funky genetics").

FINDINGS: Asking participants about their interest in PGD illuminated their beliefs about heredity. These beliefs address physiological mechanisms of inheritance, but also how emotional constitutions ("I can handle this but my sister couldn't"), coping patterns ("I'm a fighter like my mother"), psychiatric and other physical illness risk ("depression is worse than cancer") are “inherited” in family life. Participants were attentive to family traits when considering screening out a BRCA mutation, such as predisposition to depression or anxiety, scholastic aptitude, and physical or personality characteristics such as the strength of character in the face of a cancer diagnosis. Beliefs about the extent to which these predispositions are inherited or nurtured remain unclear.

CONCLUSIONS: BRCA gene alteration carriers plan for childbearing and contemplate the possibility of passing the alteration on to a child in the context of other important predispositions. These findings will aid social workers, in collaboration with other health and mental health professionals, to construct targeted interventions to minimize distress and aid in reproductive decision-making for patients actively engaged in family planning. Future research must attend to mutation carriers' life partners, as decisions about cancer risk and family planning are rarely made in isolation. Further, each partner brings a unique set of genetic characteristics and concerns to family planning as well as hopes about what, ideally, is passed on to children.