Green Michael J, Botkin Jeffrey R
Penn State Milton S Hershey Medical Center, Hershey, Pennylvania, USA.
Ann Intern Med. 2003 Apr 1;138(7):571-5. doi: 10.7326/0003-4819-138-7-200304010-00013.
Predictive genetic tests are now available for assessing susceptibility to a variety of conditions, including breast and colon cancer, hemochromatosis, and Alzheimer and Huntington disease. Much controversy surrounds the application of these tests, stemming from their similarities to and differences from other tests commonly used in asymptomatic persons. Some have argued that genetic tests are unique and therefore justify special consideration with regard to informed consent and privacy. This paper examines the arguments for such "genetic exceptionalism" and concludes that no clear, significant distinctions between genetic and nongenetic tests justify a different approach to testing by clinicians. Nevertheless, with many genetic tests, the results may cause stigmatization, family discord, and psychological distress. Regardless of whether a test is genetic, when this combination of characteristics is present and when health care providers are not specifically trained to interpret results, testing should be performed with particular caution and the highest standards of informed consent and privacy protection should be applied.
现在已有预测性基因检测可用于评估对多种疾病的易感性,包括乳腺癌、结肠癌、血色素沉着症、阿尔茨海默病和亨廷顿病。这些检测的应用引发了诸多争议,源于它们与无症状人群常用的其他检测的异同。一些人认为基因检测独具特殊性,因此在知情同意和隐私方面需要特别考量。本文审视了支持这种“基因例外论”的观点,并得出结论:基因检测与非基因检测之间不存在明确、显著的区别,不足以让临床医生采取不同的检测方法。然而,许多基因检测的结果可能会导致污名化、家庭不和以及心理困扰。无论检测是否为基因检测,当出现这种特征组合且医疗保健提供者未接受过专门的结果解读培训时,检测都应格外谨慎进行,并应采用最高标准的知情同意和隐私保护措施。