Cornelia van Diepen

Beyond BRCA: A scoping review of person-centred care for women diagnosed with a BRCA gene mutation

Objectives Women diagnosed with BRCA1/2 mutations face significantly elevated lifetime risks of breast and ovarian cancer. Due to the distinctive biopsychosocial implications of a BRCA diagnosis, the care trajectory for these women is highly personalised, yet their care needs frequently remain unmet. The aim was to provide a first overview of the evidence of women’s experiences with person-centred care (PCC) within BRCA care and their needs for further PCC implementation. Design A scoping review, guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews, was conducted. Data sources Medline, Embase, Web of Science Core Collection, Cochrane Central Register of Controlled Trials, CINAHL Plus and Google Scholar were searched for literature published between January 2004 and February 2024. Eligibility criteria Peer-reviewed, primary studies on BRCA and PCC using quantitative, qualitative and mixed-methods designs were eligible. The criteria were iteratively refined to include publications based on samples that were >80% female and >80% BRCA positive. Data extraction and synthesis Titles and abstracts were screened with ASReview, a validated AI-driven tool. Data on PCC evidence and needs were extracted based on the eight Picker Principles of PCC and synthesised by describing themes within each principle. Results Of the 3801 articles identified as potentially relevant, 18 were included in the review. PCC needs were more prevalent than evidence of their implementation. Most of women’s positive experiences with PCC focused on ‘clear information, communication and support for self-care’, while limited to no evidence existed for other principles. The highest needs were found for increased ‘emotional support, empathy and respect’, ‘attention to physical and environmental needs’, and ‘clear information, communication and support for self-care’. All articles reported demands for more holistic, yet personalised care, though PCC was not mentioned explicitly. Conclusions This review suggests a person-centred approach is relevant to improving the standard of BRCA care for women. The first evidence of women’s experiences with PCC demonstrates how care delivered with sensitivity and respect for individual backgrounds can support women throughout their BRCA trajectory. Yet, substantial unmet needs remain among female BRCA carriers, highlighting the importance of further research and PCC implementation to enhance the quality of postdiagnostic care.

What matters most: A Q-methodology study of the viewpoints of women diagnosed with a BRCA gene mutation on person-centred care

Women diagnosed with BRCA mutations face elevated risks of breast and ovarian cancer. Managing inherited risk involves complex, value-laden decisions, yet health services frequently overlook the distinct challenges these women encounter. Person-centred care (PCC) may complement medical management by addressing what matters most to patients. To inform PCC delivery for women diagnosed with BRCA, this study examined which care aspects women themselves prioritize in their trajectory and how perspectives vary within this population. We applied Q-methodology to investigate the perspectives of 23 cancer-unaffected, female BRCA carriers in the Netherlands. Participants ranked statements reflecting PCC principles by personal importance, and elaborated on their choices in interviews. Factor analysis with varimax rotation identified shared viewpoints, which were interpreted using factor arrays and enriched with qualitative data. Three distinct viewpoints were identified, explaining 51 % of the data variance: (1) 'The Informed Journey' in which women prioritized comprehensive information to enable decision-making; (2) 'Care Rooted in Compassion' whereby women emphasized the importance of empathic, respectful interactions in building trust; and (3) 'Acknowledging Intimacy and Loss' in which women prioritized clinicians' attention to the embodied impacts of their care trajectory, including reproductive and post-surgical or menopausal challenges. Our findings support the relevance of person-centred approaches in care for women living with genetic cancer risk. Women with BRCA mutations differ in what they value most in their care, yet shared priorities emerge. Understanding whether a woman emphasises information, compassion, or bodily concerns can guide clinicians in tailoring communication and counselling. Such alignment helps ensure that risk management strategies are inherently responsive to women's lived experiences and support their broader well-being.