Allison Werner-Lin

Formal and Informal Support Needs of Young Women with BRCA Mutations

ABSTRACT This qualitative investigation aims to identify the salient support concerns of young women with BRCA mutations, a frequently understudied population with unique developmental, psychosocial, and family needs. Twenty-three unaffected BRCA gene alteration carriers aged 21 to 36 completed illness genograms and open-ended interviews. Transcripts were analyzed using the Listening Guide to highlight key themes, relationships, and meaning structures. Results reveal existing social support networks composed of family, partners, friends, and coworkers are often inadequate and formal services unavailable or underutilized. These findings suggest an important role for clinicians in reducing isolation, bolstering existing support networks, and designing innovative, targeted interventions that address the challenges specific to this age group. Interventions, such as the multifamily support group, should be integrated into genetic counseling protocols to mitigate the risk of distress.

‘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.

Incorporating Information Regarding Preimplantation Genetic Diagnosis Into Discussions Concerning Testing and Risk Management for BRCA1/2 Mutations A Qualitative Study of Patient Preferences

Studies have shown that BRCA1/2 mutation carriers are interested in learning about reproductive options such as preimplantation genetic diagnosis (PGD) to prevent passing their risk onto their children. However, attitudes vary widely, and the procedure raises complex ethical and psychosocial issues. This complexity, plus the highly technical nature of PGD, makes it difficult to integrate PGD information into genetic counseling sessions that already cover probabilistic, emotionally charged risk information.

Couple’s Narratives of Communion and Isolation Following Abnormal Prenatal Microarray Testing Results

In 2% to 3% of cases, prenatal microarray testing detects deletions and duplications in a fetus’ genome that are undetected by conventional cytogenetics. Many of these changes are associated with variable or uncertain symptomatology. Little is known about how couples experience uncertain results. This study analyzed 24 interviews with members of 12 heterosexual U.S. couples who received pathogenic or uncertain microarray prenatal testing results. Researchers used narrative analysis to examine couples’ understanding and incorporation of findings into decision making regarding pregnancy termination. Couples felt unprepared for these findings and frustrated because scant information was available to aid interpretation. Women sought information and made decisions, and men marginalized their distress to support their wives. A shift in voice from first to second person indicated attempts to normalize emotional responses by making the process “common” to all couples. Families pursuing highly sensitive prenatal testing may need expert guidance to support decision making.

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 25th 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.

Family Illness Narratives of Inherited Cancer Risk: Continuity and Transformation

Family narratives of genetic disease address multigenerational legacies of illness, guide expectations about future diagnoses and anticipated losses, and promote continuity and coherence. Yet contemporary families with histories of genetic disease face the challenge of integrating long-standing family illness narratives with technological advances in the detection and treatment of the identified disease. The authors recommend the use of narrative methods to (a) integrate multiple or competing perspectives into a comprehensive story of the illness experience, (b) accommodate historically based illness narratives to modern technological advances that enable novel trajectories, and (c) identify pathways to sustained physical and mental health through enhanced medical decision making. A case example illustrates the use of a medical genogram to track patterns of illness expression and narrative construction over multiple generations, and implications for family therapy and research are discussed.

‘The BRCA Clock is Ticking!’: Negotiating medical concerns and reproductive goals in preimplantation genetic diagnosis

Abstract Despite research on BRCA1/2 mutation carriers attitudes towards preimplantation genetic diagnosis (PGD), considerably less is known about individuals’ experience with its use. Through case reports of BRCA1/2 mutation carriers’ thoughts on, and use of, PGD, this paper highlights how the option of PGD is experienced and negotiated in the context of reproductive and life-course goals. Drawing on qualitative interviews with 38 BRCA1/2 mutation carriers, this article focuses on a subsample of 10 interviewees who sought consultation for, and/or attempted, PGD, with in-depth reports of 3 cases and summary decisions of the remaining 7. Three couples decided against PGD, and one was deciding at the time of the interview. Interviewees discuss key aspects of their experience prior to, and going through, PGD for BRCA1/2, including potential challenges of becoming pregnant through PGD and of heightened pressure to achieve their reproductive goals more quickly. Despite considerable focus on ethical issues in screening embryos for mutations associated with adult-onset cancer risk, less attention has been paid to the technical, logistical, and related psychosocial issues. Narrative case reports may help individuals develop appropriate expectations of PGD for BRCA prepare for possibly challenging decisions and outcomes, and ultimately determine whether it is compatible with their reproductive goals.

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.

Teaching Future Teachers: A Model Workshop for Doctoral Education

Doctoral student training has become focused in recent years on acquiring subject-area knowledge and research skills, rather than on teaching. This shift often leaves aspiring junior faculty feeling unprepared to address the demanding pedagogical requirements of the professoriate. In the area of social work, few programs contain a structured, required program of study that addresses issues unique to teaching in a school of social work. This article outlines a doctoral teaching workshop as a model framework for social work doctoral programs. Suggestions are provided for ways to incorporate such an effort into current social work doctoral education.

Building the Cancer Family: Family Planning in the Context of Inherited Breast and Ovarian Cancer Risk

Deleterious BRCA1 and BRCA2 gene alterations significantly elevate a woman’s risk of developing hereditary breast and ovarian cancer. A simple blood test can identify the presence of a BRCA gene alteration in a patient’s DNA. Increasingly, individuals pursuing genetic testing to identify these alterations are also involved in family planning and parenting young children. However, the challenges unique to BRCA gene alteration carriers of reproductive age are just beginning to be studied. This investigation identifies the influences of family medical histories and genetic testing on reproductive choices and examines the meanings of family planning and parenting in the context of genetic medicine. 23 female BRCA gene alteration carriers of reproductive age were recruited from an urban hospital and an Internet-based support community. Each participant completed an open-ended interview and constructed a medically focused family genogram. Interviews addressed family experiences with cancer, perceptions of cancer risk, and beliefs about family development. Interviews were transcribed verbatim and analyzed using the Listening Guide (Gilligan, Spencer, Weinberg, & Bertsch, 2003) to identify key relationships and meaning structures. Participants had no personal history of cancer. Emergent themes included balancing risk management with family planning, weighing possible advances in cancer prevention with desire for biological children, and anticipating implications of a parent’s carrier status for children. Findings will aid in developing research and clinical protocols to integrate risk management with family planning. Research attention to partners, health care access, and reproductive technologies is considered.