Patient perspective on the value of genetic counselling for familial pancreas cancer.
Patient perspective on the value of genetic counselling for familial pancreas cancer.
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DOI：
10.1186/1897-4287-3-3-115
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发表时间：
2005-08-15
影响因子：
1.7
通讯作者：
Griffin CA
中科院分区：
文献类型：
--
作者：
Axilbund JE;Brune KA;Canto MI;Brehon BC;Wroblewski LD;Griffin CA
在缺乏预测性基因检测的情况下，评估患者对家族性胰腺癌遗传咨询的价值的看法。有三个或更多亲属患有胰腺癌的高危成年人在通过内窥镜超声进行研究筛查之前接受了遗传咨询。在访问后邮寄问卷，以评估咨询会议的感知价值。93%的受访者认为，尽管缺乏致病基因，但胰腺癌的遗传咨询是有帮助的，而只有7%的受访者认为，在发现这样的基因之前，不应该提供这种咨询。超过一半的受访者认为他们家族中的胰腺癌是由基因突变引起的，42%的人认为他们遗传了这种突变。患胰腺癌的平均终身风险为51%，87%的受访者最终会寻求预测性基因测试。当获得更多信息后，89%的人会对另一次遗传咨询课程感兴趣，82%的人会向有胰腺癌家族病史的朋友或亲戚推荐目前的胰腺癌遗传咨询。尽管缺乏确定的胰腺癌的主要致病基因，但受访者发现这种恶性肿瘤的遗传咨询是有帮助的。这些患者认为他们个人患癌症的风险很高，如果可以的话，他们会寻求预测性基因测试。应将遗传咨询转介给适当的个人。
To assess patient views regarding the value of genetic counselling for familial pancreas cancer in the absence of predictive genetic testing. At-risk adults with three or more relatives with pancreas cancer received genetic counselling prior to research screening via endoscopic ultrasound. Questionnaires were mailed after the visit to assess perceived value of the counselling session. Ninety-three percent of respondents felt genetic counselling for pancreas cancer was helpful despite the lack of a causative gene, while only 7% felt that it should not be offered until such a gene is discovered. Over half of respondents believed the pancreas cancer in their family was caused by a gene mutation, and 42% thought they had inherited the mutation. The average perceived lifetime risk of developing pancreas cancer was 51%, and 87% of respondents would ultimately seek predictive genetic testing. When more information is gained, 89% would be interested in another genetic counselling session, and 82% would recommend current genetic counselling for pancreas cancer to a friend or relative with a family history of the disease. Despite the lack of an identified major causative gene for pancreas cancer, respondents found genetic counselling for this malignancy to be helpful. These patients perceive their personal cancer risk to be high, and would seek predictive genetic testing if it were available. Referral for genetic counselling should be offered to appropriate individuals.
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影响因子：
5.4
作者：
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通讯作者：
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