Davis J G
Division of Human Genetics, New York Hospital-Cornell Medical Center, New York 10021, USA.
Ann N Y Acad Sci. 1997 Dec 29;833:42-6. doi: 10.1111/j.1749-6632.1997.tb48591.x.
The role that genetic factors play in medicine has expanded, owing to such recent advances as those made by the Human Genome Project and the work that has spun off from it. The project is focusing particularly on localization and characterization of recognized human genetic disorders, which in turn increases awareness of the potential for improved treatment of these disorders. Technical advances in genetic testing in the absence of effective treatment has presented the health profession with major ethical challenges. The example of the identification of the BRCA1 and BRCA2 genes in families at high risk for breast and ovarian cancer is presented to illustrate the issues of the sensitivity of the method, the degree of susceptibility a positive result implies, the need for and availability of counseling and patient education, and confidentiality of the test results. A compelling need exists for adequate education about medical genetics to raise the "literacy" rate among health professionals.
由于人类基因组计划及其衍生工作等近期取得的进展，遗传因素在医学中的作用得到了扩展。该计划特别关注已确认的人类遗传疾病的定位和特征描述，这反过来又提高了人们对改善这些疾病治疗潜力的认识。在缺乏有效治疗方法的情况下，基因检测的技术进步给医疗行业带来了重大的伦理挑战。以识别乳腺癌和卵巢癌高危家族中的BRCA1和BRCA2基因为例，来说明该方法的敏感性问题、阳性结果所暗示的易感性程度、咨询和患者教育的必要性及可获得性，以及检测结果的保密性。迫切需要对医学遗传学进行充分教育，以提高医疗专业人员的“素养”率。
