ETHICAL & POLICY ISSUES IN CYSTIC FIBROSIS SCREENING

随着人类基因组的绘制和疾病相关基因的识别， 用于筛查人群致病或易感性的测试- 授予突变的机会将变得越来越多。对于某些人来说 这些疾病没有有效的治疗方法。载体筛查 将确定有感染风险的个人和夫妇 后代。然后他们可以为受影响的孩子的出生做准备，或者 选择避免怀孕或出生的选项。 大多数接受携带者筛查的人很少或根本没有 个人对所涉疾病的熟悉程度。除非他们收到 关于疾病的足够信息(残疾程度和范围 严重程度)、测试的局限性(假阳性和假 负面影响)，以及积极结果的影响(风险 受影响的后代、产前诊断、堕胎)他们对 是否接受筛查可能与他们的孩子不一致- 培养目标、容忍不确定性或道德戒律。其中 那些同意接受筛查的人，结果可能会产生心理上的影响 压力和对额外测试的需求，即使在有机会 受影响的儿童相对较小。 一种检测大多数但不是所有携带者的检测方法的可用性 导致囊性纤维化(CF)的突变为 确定人们在面对实际情况时的反应 是否接受筛查的决定。Cf运营商筛查将是 提供给健康维护组织的年轻成年成员。我们 将决定跟随一个小组进行筛查的接受率 教育计划，并检查人口统计的影响， 社会经济、认知和行为特征对决策的影响 接受筛选。筛查对那些被确认为 携带者，以及其中一方被确定为携带者的夫妇 也将进行研究。一年中筛查的接受率 消息灵通的人群和被识别为携带者的影响 将为与遗传相关的公共政策提供更好的指导 放映。

As the human genome is mapped and diseased-related genes identified, tests for screening populations for disease-causing or susceptibility- conferring mutations will become increasingly available. For some of the diseases, no effective cure will be available. Carrier screening will identify individuals and couples at risk of having affected offspring. They then can prepare for the birth of an affected child or choose options to avoid its conception or birth. Most people to whom carrier screening is offered will have little or no personal familiarity with the disease in question. Unless they receive sufficient information about the disease (extent of disability and range of severity), the limitations of the test (false positives and false negatives), and the implications of positive results (risk of having affected offspring, prenatal diagnosis, abortion) their decision on whether or not to be screened may not be consonant with their child- rearing goals, tolerance for uncertainty, or moral precepts. Among those who agree to be screened, the results may generate psychological stress and demand for additional testing even when the chance of having an affected child is relatively small. The availability of a test that detects most, but not all, carriers of the mutations that cause cystic fibrosis (CF) affords an opportunity to determine how people respond when they are confronted with the actual decision of whether to be screened. CF carrier screening will be offered to young adult members of a health maintenance organization. We will determine the rate of acceptance of screening following a group education program and examine the influence of demographic, socioeconomic, cognitive, and behavioral characteristics on the decision to be screened. The impact of screening on those identified as carriers, and on couples in whom one partner is identified as a carrier, will also be studied. The rates of acceptance of screening among a well-informed population and the effect of being identified as a carrier will provide better guidance to public policy related to genetic screening.