Fletcher J C
Clin Genet. 1984 Jan;25(1):25-32. doi: 10.1111/j.1399-0004.1984.tb00458.x.
This paper reviews past, present and future social and ethical considerations of screening carriers of autosomal disorders and other heterozygotes. A body of ethical and social guidance has evolved in the 1970's and 1980's for screening. The values of voluntaristic participation and informed consent are high. The goal of programs should be to provide couples, families, and individuals with knowledge respecting their reproductive choices. The dangers are coercive strategies, stigmatization, and careless communication of risk information. It is assumed that the number of autosomal carrier states that are screenable will undoubtedly increase as will states of heterozygosity that cause susceptibility to common diseases. Before the end of the century, something approaching a "biopsy of the human genome" will be a practical reality. To balance the potential for harmful psychological and social effects of so much new genetic knowledge, new efforts must be made to find treatments for progeny affected by recessive disorders. Maternal and paternal screening, prenatal diagnosis and treatment will be increasingly linked in the future. This paper will report on a case of fetal therapy for congenital adrenal hyperplasia as a paradigm for the future. The argument will be made that society ought to put a higher priority on prenatal care and prevention of disorders of prematurity than genetic disorders with a low frequency, lest genetic screening be distorted by unfounded concern about eugenics.
本文回顾了对常染色体疾病携带者及其他杂合子进行筛查在过去、现在及未来所涉及的社会和伦理考量。在20世纪70年代和80年代，一套伦理和社会指导方针逐渐形成用于筛查。自愿参与和知情同意的价值很高。筛查项目的目标应该是为夫妇、家庭和个人提供有关其生殖选择的知识。存在的风险是强制策略、污名化以及对风险信息的不当传达。可以预见，可进行筛查的常染色体携带者状态的数量无疑会增加，导致对常见疾病易感性的杂合子状态数量也会增加。在本世纪末之前，某种接近“人类基因组活检”的事情将成为现实。为了平衡如此多新的基因知识可能带来的有害心理和社会影响，必须做出新的努力来寻找治疗受隐性疾病影响后代的方法。未来，对母亲和父亲的筛查、产前诊断及治疗将越来越紧密地联系在一起。本文将报告一例先天性肾上腺皮质增生症胎儿治疗的病例，以此作为未来的范例。有人会提出，社会应该更加重视产前护理和早产疾病的预防，而不是低频基因疾病，以免基因筛查因对优生学毫无根据的担忧而被扭曲。
