Harper P S
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
BMJ. 1993 May 22;306(6889):1391-4. doi: 10.1136/bmj.306.6889.1391.
Research on samples from families with genetic disease underlies many of the major advances that are occurring in medical genetics. But ethical and practical problems may arise when samples from relatives who are healthy but at risk are included in such studies. In particular, new molecular tests for specific gene mutations may result in the detection of a genetic defect in relatives who had neither expected this possibility nor given specific consent to such testing. Family members at risk should not be included in such studies unless strictly necessary, and in such cases specific consent should be obtained and information should be given about the implications of an abnormal result of a test. This is particularly important when stored samples from previous studies without such implications are being reused and is also relevant to the genetic testing of samples taken primarily for epidemiological studies of disorders when only a small proportion of cases is thought to be genetic in origin. There is a need for guidelines to protect both subjects and investigators in a field which is spreading rapidly and involving many clinical and laboratory research workers previously unfamiliar with genetic testing.
对患有遗传疾病家庭的样本进行研究，是医学遗传学领域许多重大进展的基础。但是，当将健康但有患病风险的亲属的样本纳入此类研究时，可能会出现伦理和实际问题。特别是，针对特定基因突变的新分子检测，可能会在亲属中检测到基因缺陷，而这些亲属既没有预料到这种可能性，也没有给予此类检测的明确同意。除非绝对必要，否则不应将有患病风险的家庭成员纳入此类研究；在这种情况下，应获得明确同意，并告知检测结果异常的影响。当重新使用先前研究中未提及此类影响的储存样本时，这一点尤为重要，同时这也与主要为疾病流行病学研究而采集的样本的基因检测相关，因为只有一小部分病例被认为是由基因引起的。在这个迅速发展且涉及许多以前不熟悉基因检测的临床和实验室研究人员的领域，需要制定指导方针来保护受试者和研究人员。
