Assessing the Psychological Impact of Genetic Susceptibility Testing.
Assessing the Psychological Impact of Genetic Susceptibility Testing.
复制标题
评估遗传易感性测试的心理影响。
DOI：
10.1002/hast.1015
复制
发表时间：
2019
期刊：
影响因子：
--
通讯作者：
Roberts,JScott
中科院分区：
文献类型：
--
作者：
Roberts,JScott
基因检测的广泛使用引发了关键的伦理和政策问题，即对接受疾病风险信息的人可能带来的好处和危害。由于亨廷顿病的预测性检测是在临床环境中启动的，提出假设性检测方案的调查研究表明，绝大多数高危亲属都想知道他们是否携带致病突变。然而，只有少数人最终利用了这一机会。许多处于危险中的人得出结论，阳性测试结果在心理上过于压倒性。大量文献表明，在应对许多不同的健康相关压力方面，个体往往比预期的更具弹性。我自己在该领域的大部分工作都是通过阿尔茨海默病风险评估和教育研究（REVEAL）进行的，这是一系列随机临床试验，评估遗传易感性测试对无症状阿尔茨海默病风险个体的影响。我们在开发和实施四个连续的多中心试验方面的经验为该领域提供了一些潜在的有用教训。更多的人将要求提供他们的个人基因信息。更好的理解将有助于我们决定何时获取信息是适当的，以及如何以最佳方式披露结果，以支持对检测结果的调整，并促进利用遗传信息改善人类健康。
The expanded use of genetic testing raises key ethical and policy questions about possible benefits and harms for those receiving disease‐risk information. As predictive testing for Huntington’s was initiated in a clinical setting, survey research posing hypothetical test scenarios suggested that the vast majority of at‐risk relatives wanted to know whether they carried a disease‐causing mutation. However, only a small minority ultimately availed themselves of this opportunity. Many at‐risk individuals concluded that a positive test result would be too psychologically overwhelming. A substantial literature suggests that individuals are often more resilient than anticipated in coping with many different health‐related stresses. Much of my own work in the field has been through the Risk Evaluation & Education for Alzheimer’s Disease study (REVEAL), a series of randomized clinical trials assessing the impact of genetic susceptibility testing on asymptomatic individuals at risk for Alzheimer’s disease. Our experience in developing and implementing four successive, multisite trials provides some potentially useful lessons for the field. More people will be asking for their personal genetic information. Better understanding will help us decide when access is appropriate and how best to disclose results in a manner that supports adjustment to test findings and promotes use of genetic information to improve human health.