BARRIERS TO CARRIER TESTING FOR ADULT CYSTIC-FIBROSIS SIBS - THE IMPORTANCE OF NOT KNOWING
BARRIERS TO CARRIER TESTING FOR ADULT CYSTIC-FIBROSIS SIBS - THE IMPORTANCE OF NOT KNOWING
复制标题
DOI：
10.1002/ajmg.1320590117
复制
发表时间：
1995-10-23
期刊：
影响因子：
--
通讯作者：
JOHNSON, JP
中科院分区：
文献类型：
--
作者：
FANOS, JH;JOHNSON, JP
提供囊性纤维化（CF）人群筛查的中心的早期经验表明，很少有公众利用该服务[米勒，1993：新科学家139：6]，在成年CF同胞中也有类似的低利用率[Fanos和约翰逊，1993：美国遗传学杂志53：A51]。本研究的目的是确定促使或干扰成年CF同胞进行携带者检测的因素。对来自加利福尼亚州奥克兰儿童医院和马萨诸塞州波士顿儿童医院的84名成年CF同胞及其配偶进行了约一个小时的访谈，并对各种主题的定性材料进行了编码，遗传信息传递的结构和心理障碍被确定为：1）sib在获得有关检测可用性的信息方面遇到困难; 2）父母的内疚和责备阻止父母与同胞讨论遗传问题; 3）同胞很少彼此讨论测试; 4）CF患者或父母通常难以理解同胞寻求携带者测试的含义; 5）家庭和个人对携带者身份的误解影响了同胞兄弟姐妹寻求检测的决定; 6）在已经发生罕见的家庭中，统计学上的几率已经失去了意义; 7）同胞兄弟姐妹害怕失去人际交往的吸引力;和8）携带者身份可以在约束内疚方面发挥重要作用，保持不知道自己的携带者身份可能会对处于危险中的个人发挥重要的心理作用。(C)1995 Wiley-Liss，Inc.
Early experience in centers offering population screening for cystic fibrosis (CF) has shown that few of the public are taking advantage of the offer [Miller, 1993: New Scientist 139:6], There is similar low utilization among adult CF sibs [Fanos and Johnson, 1993: Am J Hum Genet 53:A51]. The purpose of this study was to identify factors motivating or interfering with the pursuit of carrier testing in adult CF sibs, Eighty-four adult CF sibs and their spouses, drawn from Children's Hospital, Oakland, CA, and Children's Hospital, Boston, MA, were interviewed for about an hour, and qualitative material was coded on various themes, Structural and psychological barriers to the transmission of genetic information were identified: 1) sibs encountered difficulty in obtaining information concerning availability of testing; 2) parental guilt and blame prevents parents hom discussing genetic issues with the sib; 3) sibs rarely discuss testing with each other; 4) the CF patient or parent often has difficulty with the implications of the sib seeking carrier testing; 5) family and individual myths about carrier status influence the sib's decision to seek testing; 6) statistical odds have lost meaning in families where the rare has already occurred; 7) the sib fears loss of interpersonal desirability; and 8) carrier status can serve an important function in binding guilt, Remaining unaware of their carrier status may serve significant psychological functions for individuals at risk. (C) 1995 Wiley-Liss, Inc.