Hereditary nonpolyposis colorectal cancer family members' perceptions about the duty to inform and health professionals' role in disseminating genetic information
Hereditary nonpolyposis colorectal cancer family members' perceptions about the duty to inform and health professionals' role in disseminating genetic information
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DOI：
10.1089/gte.2005.9.261
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发表时间：
2005-09-01
期刊：
影响因子：
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通讯作者：
Gritz, ER
中科院分区：
文献类型：
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作者：
Pentz, RD;Peterson, SK;Gritz, ER
本研究的目的是确定遗传性非息肉病性结直肠癌（HNPCC）家庭对告知责任的看法，特别关注卫生专业人员在传播家族遗传信息方面的作用。16个临床或分子诊断为HNPCC的家庭的80名成员完成了关于家庭成员知情权和谁应该传播家族遗传信息的看法的定性访谈。大多数人表示，家庭中的每个人都应该知道家庭中存在突变，家庭成员本身是最好的举报人，并得到被视为有助于克服障碍的保健专业人员的支持。除一名答复者外，所有答复者都表示，如果父母没有进行检测，也可能没有将家庭突变告知其子女，则应由其他家庭成员或保健专业人员告知该子女。许多人对保密问题感到担忧，但他们认为，家庭成员了解突变并进行适当监控的重要性超过了保密问题。受访者在向其他家庭成员披露个人结果时更加保密，明确区分了个人结果和家族遗传信息。这些患有遗传性结肠癌综合征的家庭倾向于在家庭内部公开分享遗传信息，并希望医疗保健专业人员参与传播遗传信息。
This study's aim was to ascertain hereditary nonpolyposis colorectal cancer (HNPCC) families' views on the duty to inform with particular focus on the role of health professionals in disseminating familial genetic information. Eighty members of 16 families with a clinical or molecular diagnosis of HNPCC completed qualitative interviews regarding views on family members' right to know and who should disseminate familial genetic information. Most indicated that everyone in the family should know about the presence of a mutation in the family, with family members themselves being the preferable informant, supported by health professionals who were seen as helpful in overcoming barriers. All but one respondent indicated that if a parent did not test and presumably did not inform his/her child about the family mutation, the child should be informed by other family members or by a health professional. Many were attuned to confidentiality concerns, but judged them to be outweighed by the importance of family members knowing about the mutation and undertaking proper surveillance. Respondents were more private about the disclosure of individual results to other family members, clearly distinguishing personal results from familial genetic information. These families with a hereditary colon cancer syndrome favor open sharing of genetic information within the family, and desire the supportive involvement of health care professionals in disseminating genetic information.