HOW MUCH INFO ABOUT THE RISK OF CF DO COUPLES WANT?

夫妻需要多少关于 CF 风险的信息？

• 批准号: 3333786
• 负责人: DAVID A ASCH
• 金额: $ 18.02万
• 依托单位: UNIVERSITY OF PENNSYLVANIA
• 依托单位国家: 美国
• 财政年份: 1991
• 资助国家: 美国
• 起止时间: 1991-09-30 至 1993-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3333786
• 关键词: cystic fibrosis; decision making; disease /disorder proneness /risk; gene mutation; genetic counseling; genetic disorder diagnosis; health care model; judgment; motivation; preference; prenatal diagnosis; questionnaires; self concept

The goal of this project is to guide the development of health policy regarding the appropriate use of genetic screening tests. These policies should be based in part on the accuracy of available screening tests, and in part on individuals' preferences for the information they provide. This project will study individuals' preferences for receiving genetic information made increasingly available through advances stemming from the Human Genome Project. The results will illuminate the important factors in individual judgments about the value of genetic carrier information. The project will use as a model prenatal and preconception carrier screening for five common mutations causing cystic fibrosis (deltaF508, G542X, F551D, R553X, N1303K). This is not a pilot clinical program for CF carrier testing; instead, the project investigates the decisions couples in such a program make. The study will test the hypothesis that when given the opportunity to learn genetic carrier information in sequence-by screening one partner in a couple at a time-many couples will in fact chose not to test the second partner. In doing so, these couples make a decision to obtain less than all of the obtainable information. Couples in both the prenatal setting and the preconception setting will be studied because their preferences for information are likely to be different. In this regard the project will investigate both the appropriate timing of carrier screening, and the amount that should be performed. The decision to obtain less than the maximum available information makes sense if the information is not useful in making future decisions, but has a negative impact on the way individuals perceive themselves. The results of this study will have important implications for the formulation of health study. If the study hypotheses are correct, the best public screening policy may be to recommended that only one partner in a couple by screened for CF mutations, and that the other partner should be screened only if the first is positive. If, on the other hand, the study hypotheses are incorrect, the results will suggest that individuals prefer carrier screening of both partners simultaneously, regardless of the potential problems of receiving information that they cannot effectively use.

该项目的目标是指导卫生政策的制定 关于适当使用基因筛选测试的问题。 这些 政策应部分基于现有筛查的准确性 测试，部分取决于个人对他们所提供信息的偏好， 提供. 这个项目将研究个人的偏好， 基因信息通过技术进步变得越来越容易获得 源于人类基因组计划 结果将阐明 个人判断遗传价值的重要因素 载体信息。 该项目将使用作为一个模型产前和孕前载体 筛选引起囊性纤维化的五种常见突变（Δ F508， G542X、F551D、R553X、N1303K）。 这不是一个试点临床计划， CF载波测试;相反，该项目调查的决定 夫妻在这样的节目中。 这项研究将检验以下假设： 当有机会学习遗传载体信息时， 顺序-通过筛选一对夫妇中的一个合作伙伴在同一时间-许多夫妇 事实上威尔选择不去测试第二个合伙人 在这样做时，这些 夫妇们决定获得的比所有可获得的都少 信息. 在产前环境和怀孕前的夫妇 设置将被研究，因为他们的信息偏好是 可能会有所不同。 在这方面，该项目将调查 携带者筛选的适当时机和 应该执行。 决定获取的信息少于最大可用信息， 如果信息对未来的决策没有帮助， 对人们看待自己的方式有负面影响。 这项研究的结果将有重要的影响， 制定健康研究计划。 如果研究假设正确， 最好的公共筛查政策可能是建议只有一个伴侣 在一对夫妇中，通过筛查CF突变，而另一方 只有在第一个是阳性的情况下才应该进行筛查。 如果另 一方面，研究假设是不正确的，结果将表明， 个人更喜欢同时对伴侣双方进行携带者筛查， 不管接收信息的潜在问题， 不能有效利用。