Formal and Informal Support Needs of Young Women withBRCAMutations

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.

When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer

“…24 Having difficulties in deciding about, and coping with the impact of, riskreducing surgeries was a common theme, underscoring findings from related studies demonstrating high levels of unmet information needs in this area. 25,26 Before discussing the clinical implications of the findings, the limitations of the study should be mentioned. As with all qualitative studies, statistically valid generalisations cannot be undertaken, nor can causal relationships be established; however, we have also undertaken a quantitative comparison of women with and without a family history, the results of which will be reported separately.…”

Peer Support and Mentorship in a US Rare Disease Community: Findings from the Cystinosis in Emerging Adulthood Study

“…Internet connectivity allows for communication across ''geographic, temporal, and spatial'' barriers [20]. Traditional oral communication continues, including formal and informal inperson interactions [17] and contact by telephone and mail.…”

“…They may not have ready access to specialists who could facilitate introductions to others similarly affected. A growing body of literature exists about online social support for health conditions such as diabetes [11], cancer [12,13], primary biliary cirrhosis [14], HIV [15], and rare and genetic conditions such as Huntington's Disease [16], BRCA1/2 mutations [17], and cystic fibrosis [18]. Online health support forums allow those who participate to ''transmit and obtain information, provide and receive emotional support, socialize and form interpersonal relationships, and experience comradeship with others sharing a similar distress'' [19].…”

What Women with Breast Cancer Discuss with Clinicians About Risk for Their Adolescent Daughters

“…Werner-Lin (2008) suggested, “This period ….may be the most crucial time for considering the impact of genetic testing” (p. 114). Early research quickly identified that daughters of women with breast cancer develop greater feelings of vulnerability about the disease (Wellisch et al, 1991).…”