Hoskins Lindsey M, Werner-Lin Allison, Greene Mark H
Clinical Genetics Branch, National Cancer Institute, Bethesda, Maryland, United States of America.
Social Policy and Practice, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
PLoS One. 2014 Feb 28;9(2):e87696. doi: 10.1371/journal.pone.0087696. eCollection 2014.
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 25(th) birthdays.
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.
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.
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.
已被确定携带BRCA1或BRCA2有害突变的年轻女性，在人生人口密集阶段面临着一系列与癌症风险管理相关的独特挑战。由于缺乏针对特定年龄的明确医疗管理指南，且她们尚未完全具备自信做出改变人生决策的能力，她们在决策时可能会感到困难。本研究旨在从患者角度探讨18至24岁在25岁生日前完成BRCA1/2基因突变检测的女性所面临的困境。
本研究整合了通过癌症风险诊所、医院研究中心和在线组织招募的BRCA1/2阳性女性的三项独立调查的定性数据。所有32名参与者均为21至25岁的女性，在数据收集前2至60个月检测出BRCA1/2基因突变呈阳性。研究人员运用扎根理论和解释性描述技术进行研究内和跨研究分析。
参与者表示需要（1）在25岁之前的筛查和预防建议方面更加明确，特别是要考虑到与乳房X光检查相关的早期和定期辐射暴露或避孕药中使用的激素，以及（2）在风险管理方案出台时与医疗服务提供者持续保持联系以进行讨论。
青年时期的医疗保健需求随着应对突然和紧迫变化的认知能力而演变。该人群中女性的特定需求包括希望在自主决策与支持性指导之间取得平衡，需要清晰、准确和一致的医疗建议。理想情况下，这些女性最好由一组基因导向的医疗服务提供者作为持续支持计划的一部分进行护理，而不是以偶发性、危机驱动的方式就诊。本文还讨论了保险问题以及医疗服务提供者与患者之间的文化差异。
