Surh L C, Cappelli M, MacDonald N E, Mettler G, Dales R E
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa.
Arch Pediatr Adolesc Med. 1994 Jun;148(6):632-7. doi: 10.1001/archpedi.1994.02170060086017.
Recent advances in molecular genetic (DNA) technology have permitted identification of previously undetectable cystic fibrosis (CF) carriers. Although research has been initiated in the general population, to our knowledge no published studies have looked at the utilization of DNA-based carrier screening in the high-risk CF population (family history of CF).
Cross-sectional, diagnostic open trial.
Carrier testing was offered to a high-risk CF population via adult patients with CF or parents of pediatric patients with CF attending two regional CF clinics over a 3-year period.
Consecutive sample of virtually all patients with CF (n = 118) from a population of 1 million.
Despite free services, written follow-up, and counseling for 99% of patients attending the CF clinic, there was less than 10% participation from high-risk family members (168 blood relatives and 26 spouses of identified carriers or patients with CF; 38 and 156 persons from the adult and pediatric clinic families, respectively). Nevertheless, we identified 91 CF carriers among the 168 high-risk relatives. This is comparable to the number of carriers detected in general population carrier screening that has tested substantially more individuals (> 3000 per study).
Our results suggest that research concerning CF carrier screening not only focus on data about fundamental program resources and numbers of carriers detected but also investigate how information about the availability of carrier screening is disseminated, the motivation behind testing, and the perceived relevance of test results by those tested in the high-risk population. These issues are increasingly relevant as screening becomes feasible using DNA testing for far more prevalent disorders (such as breast cancer and diabetes).
分子遗传学（DNA）技术的最新进展使得能够识别出以前无法检测到的囊性纤维化（CF）携带者。尽管已经在普通人群中开展了研究，但据我们所知，尚无已发表的研究探讨基于DNA的携带者筛查在CF高危人群（有CF家族史）中的应用情况。
横断面诊断性开放试验。
在3年时间里，通过在两个地区CF诊所就诊的成年CF患者或儿童CF患者的父母，为CF高危人群提供携带者检测。
从100万人口中连续抽取的几乎所有CF患者样本（n = 118）。
尽管为99%就诊于CF诊所的患者提供了免费服务、书面随访和咨询，但高危家庭成员的参与率不到10%（168名血亲以及已识别携带者或CF患者的26名配偶；分别来自成人诊所家庭和儿童诊所家庭的38人和156人）。然而，我们在168名高危亲属中识别出91名CF携带者。这与在普通人群携带者筛查中检测到的携带者数量相当，而普通人群携带者筛查检测的个体数量要多得多（每项研究>3000人）。
我们的结果表明，关于CF携带者筛查的研究不仅应关注基本项目资源数据和检测到的携带者数量，还应调查携带者筛查信息的传播方式、检测背后的动机以及高危人群中被检测者对检测结果的感知相关性。随着使用DNA检测对更常见疾病（如乳腺癌和糖尿病）进行筛查变得可行，这些问题变得越来越重要。
