Tambor E S, Bernhardt B A, Chase G A, Faden R R, Geller G, Hofman K J, Holtzman N A
Johns Hopkins School of Medicine, Baltimore, MD 21205.
Am J Hum Genet. 1994 Oct;55(4):626-37.
We offered cystic fibrosis (CF) carrier testing to reproductive-age enrollees in an HMO, in order to determine factors associated with test utilization in a primarily nonpregnant population. Male and female enrollees either were mailed an invitation to have the test after attending an educational session (N = 2,713) or were approached in waiting rooms at the HMO sites and given the opportunity to have the test without making an additional visit (N = 608). Uptake was considerably higher when testing could be obtained without making an additional visit (23.5%) than when attendance at an educational session was required as a prerequisite for having the test (3.7%). Utilization was higher among respondents who were planning children. Caucasians, and those with higher educational attainment. Among respondents planning to have children, individuals with higher tolerance for test uncertainty, lower fear of stigma, and higher perceived risk of being a carrier were significantly more likely to have the test. Testing decisions were not associated with the perceived burden of a child with CF or with the likelihood of aborting for CF. Although utilization of CF carrier testing is relatively low among nonpregnant individuals, uptake is significantly higher when testing can be obtained with minimal effort. Factors associated with the decision to be tested had more to do with implications of being a carrier per se than with the concerns of having a child with CF.
我们为一家健康维护组织(HMO)中处于生育年龄的参保者提供囊性纤维化(CF)携带者检测,以确定在主要为非孕妇人群中与检测利用相关的因素。男性和女性参保者要么在参加一次教育讲座后收到检测邀请信(N = 2713),要么在HMO机构的候诊室被询问并获得无需额外就诊即可进行检测的机会(N = 608)。无需额外就诊就能进行检测时的接受率(23.5%)比要求参加教育讲座作为检测前提条件时的接受率(3.7%)要高得多。在计划要孩子的受访者、白种人以及受教育程度较高的人群中,检测利用率更高。在计划要孩子的受访者中,对检测不确定性容忍度较高、对污名化恐惧较低且认为自己携带致病基因风险较高的个体进行检测的可能性显著更高。检测决定与对患有CF孩子的感知负担或因CF而堕胎的可能性无关。尽管在非孕妇个体中CF携带者检测的利用率相对较低,但在能轻松获得检测时接受率会显著更高。与检测决定相关的因素更多地与本身作为携带者的影响有关,而非与生育患有CF孩子的担忧有关。