Sharing genetic test results with family members of BRCA, PALB2, CHEK2, and ATM carriers.
Sharing genetic test results with family members of BRCA, PALB2, CHEK2, and ATM carriers.
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DOI：
10.1016/j.pec.2020.12.019
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发表时间：
2021-04
影响因子：
3.5
通讯作者：
Cragun D
中科院分区：
文献类型：
--
作者：
Dean M;Tezak AL;Johnson S;Pierce JK;Weidner A;Clouse K;Pal T;Cragun D
这项研究探讨了与家庭成员（FM）分享个人基因检测结果（GTR）的动机和挑战/障碍。对62名在BRCA、PALB 2、CHEK 2或ATM基因中存在致病性或可能致病性（P/LP）变异的女性进行了半结构化、深入访谈。选择性定性数据分析侧重于引出参与者在与FM分享其GTR时确定的动机和挑战/障碍。与FM分享个人GTR的动机包括：健康保护和预防;道德义务;决策授权;家庭关系;书面资源;以及癌症家族原因的背景化。家庭共享的挑战/障碍包括：关注FM反应;信息的复杂性;缺乏亲密感;感知相关性;和情感影响。在BRCA和非BRCA携带者中确定了所有的动机和挑战/障碍，证明了高至中度遗传性BC（乳腺癌）基因中GTR家族共享的共性。尽管存在挑战/障碍，但参与者向最接近的FM披露了他们的GTR，但在某些FM中，对沟通的限制和/或对披露时间、方式和策略的压力各不相同。这些发现为医疗保健提供者和研究人员提供了初步的实践意义，通过展示家庭共享信件中的重要元素，广泛改善BC风险基因中P/LP变体的家庭共享干预措施。
This study explored motivators and challenges/barriers to sharing personal genetic test results (GTR) with family members (FM). Semi-structured, in-depth interviews were conducted with 62 women who had a pathogenic or likely pathogenic (P/LP) variant in a BRCA, PALB2, CHEK2, or ATM gene. Selective qualitative data analysis focused on eliciting motivators and challenges/barriers identified by participants when sharing their GTR with FM. Motivators to sharing personal GTR with FM included: health protection and prevention; moral obligation; decisional empowerment; familial ties; written resources; and contextualization for a familial cause for cancer. Challenges/barriers to family sharing included: concern for FM reactions; complexities of information; lack of closeness; perceived relevance; and emotional impact. All motivators and challenges/barriers were identified across BRCA and non-BRCA carriers, demonstrating commonalities in family sharing of GTR among high- to moderate-penetrance hereditary BC (breast cancer) genes. Despite challenges/barriers, participants disclosed their GTR with most close FM, yet restrictions in communication and/or strain on the timing, manner of disclosing, and strategies used varied across certain FM. These findings offer healthcare providers and researchers preliminary practical implications for broadly improving family sharing interventions across P/LP variants in BC risk genes by demonstrating important elements to include in family sharing letters.
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影响因子：
1.9
作者：
Black, Lee;McClellan, Kelly A.;Knoppers, Bartha Maria
通讯作者：
Knoppers, Bartha Maria
DOI：
10.1002/ajmg.10110
发表时间：
2002-01-15
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Hughes, C;Lerman, C;Main, D
通讯作者：
Main, D
影响因子：
45.3
作者：
Cybulski, Cezary;Wokolorczyk, Dominika;Lubinski, Jan
通讯作者：
Lubinski, Jan
影响因子：
1.9
作者：
Cragun, Deborah;Weidner, Anne;Pal, Tuya
通讯作者：
Pal, Tuya
影响因子：
1.9
作者：
Fehniger, Julia;Lin, Feng;Kaplan, Celia
通讯作者：
Kaplan, Celia