MacDonald Deborah J, Sarna Linda, Weitzel Jeffrey N, Ferrell Betty
Division of Clinical Cancer Genetics, City of Hope Comprehensive Cancer Center, 1500 E. Duarte Rd., Duarte, CA 91010-3000, USA.
J Genet Couns. 2010 Apr;19(2):148-60. doi: 10.1007/s10897-009-9267-3. Epub 2009 Nov 10.
Women with a personal or family history of breast or ovarian cancer are increasingly presenting for genetic cancer risk assessment (GCRA). To explore the personal and family impact of GCRA, four focus groups were conducted of women seen for risk assessment. Participants were 22 primarily non-Latina White women with a personal or family history of breast or ovarian cancer. Analysis of the data identified new themes related to balancing time to assimilate risk information with the need to make timely healthcare decisions, physicians' lack of sufficient genetic knowledge, and concern for daughters regardless of the daughters' age. Other themes related to protecting others, knowledge as empowerment, reassessing personal attribution of cancer risk, managing uncertainty, reappraising body image, and experiencing divergent family responses to communication of cancer risk and healthcare decisions. Understanding the personal and family impact of GCRA may enable genetics professionals to tailor their counseling efforts to better meet the needs of these women. Additional research is needed to extend these findings and identify interventions to support positive outcomes of GCRA.
有乳腺癌或卵巢癌个人史或家族史的女性越来越多地前来进行遗传性癌症风险评估（GCRA）。为了探究GCRA对个人和家庭的影响，针对前来进行风险评估的女性开展了四个焦点小组。参与者为22名主要是非拉丁裔白人女性，她们有乳腺癌或卵巢癌的个人史或家族史。数据分析确定了与平衡吸收风险信息的时间与及时做出医疗保健决策的需求、医生缺乏足够的遗传学知识以及无论女儿年龄大小都对其表示担忧等相关的新主题。其他主题包括保护他人、知识即力量、重新评估癌症风险的个人归因、应对不确定性、重新审视身体形象以及经历家庭对癌症风险沟通和医疗保健决策的不同反应。了解GCRA对个人和家庭的影响可能会使遗传学专业人员调整其咨询工作，以更好地满足这些女性的需求。需要进一步的研究来扩展这些发现，并确定支持GCRA取得积极成果的干预措施。
