Choosing not to undergo predictive genetic testing for hereditary colorectal cancer syndromes: expanding our understanding of decliners and declining.
Choosing not to undergo predictive genetic testing for hereditary colorectal cancer syndromes: expanding our understanding of decliners and declining.
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DOI：
10.1007/s10865-016-9820-0
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发表时间：
2017-08
影响因子：
3.1
通讯作者：
Jenkins M
中科院分区：
文献类型：
--
作者：
Keogh LA;Niven H;Rutstein A;Flander L;Gaff C;Jenkins M
虽然医学研究继续调查癌症的遗传基础，个性化预防获得了动力，但对拒绝癌症预测基因检测的个人进行的研究很少。我们招募了由于参与了一项大型的、基于人群的、澳大利亚范围内的结直肠癌研究而接受了林奇综合征或双等位基因MUTYH突变基因检测的个体。33名携带突变的家庭成员，未受癌症影响，在四个决策点之一主动或被动拒绝测试，参加了关于他们决定的定性访谈。数据分析揭示了“拒绝者”的类型：（1）不了解基因检测;（2）接受基因检测的意愿较弱;（3）有条件地拒绝;（4）无条件地拒绝检测。在这一人群中，我们发现了实现预测性基因检测所承诺的益处的重大障碍;缺乏对基因检测可用性的了解;对基因检测信息缺乏信任;希望在继续进行之前看到基因检测的更大益处;以及基因检测的负面结果可能比正面结果更多的感觉。如果癌症遗传基础的医学研究继续得到资助，并且专家继续推荐癌症的个性化预防，这些话语就必须得到解决。
While medical research continues to investigate the genetic basis of cancer, and personalised prevention gains momentum, little research has been conducted with the individuals who decline predictive genetic testing for cancer. We recruited individuals who had been offered genetic testing for Lynch syndrome or bi-allelic MUTYH mutations due to their participation in a large, population- based, Australia-wide colorectal cancer study. Thirty-three individuals in mutation-carrying families, unaffected by cancer, who had actively or passively declined testing at one of four decision-making points, took part in a qualitative interview about their decision. Data analysis revealed a typology of ‘decliners’: (1) uninformed about genetic testing; (2) a weak intention to undergo genetic testing; (3) conditionally declining; and (4) unconditionally declining testing. In this population we found substantial barriers to achieving the benefits promised by predictive genetic testing; a lack of knowledge of the availability of genetic testing; a lack of trust in genetic test information; a desire to see a stronger benefit from genetic testing before proceeding; and a sense that there may be more negative than positive outcomes from genetic testing. These discourses must be addressed if medical research on the genetic basis of cancer continues to be funded, and personalised prevention of cancer continues to be recommended by experts.
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影响因子：
45.3
作者：
Hadley, DW;Jenkins, JF;Palmer, CGS
通讯作者：
Palmer, CGS
影响因子：
45.3
作者：
Bruinooge, SS
通讯作者：
Bruinooge, SS
影响因子：
3.5
作者：
Esplen, M. J.;Madlensky, L.;McLaughlln, J.
通讯作者：
McLaughlln, J.
DOI：
10.1097/gim.0b013e3181cef9e1
发表时间：
2010-04
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Linnenbringer E;Roberts JS;Hiraki S;Cupples LA;Green RC
通讯作者：
Green RC
影响因子：
3.9
作者：
Dowty, James G.;Win, Aung K.;Buchanan, Daniel D.;Lindor, Noralane M.;Macrae, Finlay A.;Clendenning, Mark;Antill, Yoland C.;Thibodeau, Stephen N.;Casey, Graham;Gallinger, Steve;Le Marchand, Loic;Newcomb, Polly A.;Haile, Robert W.;Young, Graeme P.;James, Paul A.;Giles, Graham G.;Gunawardena, Shanaka R.;Leggett, Barbara A.;Gattas, Michael;Boussioutas, Alex;Ahnen, Dennis J.;Baron, John A.;Parry, Susan;Goldblatt, Jack;Young, Joanne P.;Hopper, John L.;Jenkins, Mark A.
通讯作者：
Jenkins, Mark A.