Kaufman D J, Katsanis S H, Javitt G H, Murphy J A, Scott J A, Hudson K L
Genetics and Public Policy Center, Berman Institute of Bioethics, Johns Hopkins University, Washington, DC, USA.
Clin Genet. 2008 Oct;74(4):367-73. doi: 10.1111/j.1399-0004.2008.01070.x. Epub 2008 Aug 12.
Initial guidelines for cystic fibrosis (CF) carrier screening were issued in 2001 by the American College of Medical Genetics and the American College of Obstetricians and Gynecologists and updated in 2004. It is unknown how these guidelines have influenced laboratory practice. This study examined the uptake of two components of these guidelines for CF screening in genetic testing laboratories. A survey of directors of US genetic testing laboratories was conducted. Of 190 respondents, 178 answered questions about CF testing. Nearly half (49%) performed some type of DNA testing for CF; most of these (92%) performed CF carrier screening. Ten percent used a 23-mutation panel for CF screening. The results of 5T tests were reported as a reflex test by 79% of laboratories, while 8% always returned 5T results and 7% never returned them. Seven percent of laboratories adopted both guidelines, 80% adopted one of the two guidelines, and 13% had not adopted either recommendation, suggesting that factors other than clinical guidelines may influence laboratories' CF screening practices. Further studies are needed to determine whether the adoption of CF screening guidelines has significant clinical or economic effects on population-based CF screening programs.
美国医学遗传学学会和美国妇产科医师学会于2001年发布了囊性纤维化（CF）携带者筛查的初始指南，并于2004年进行了更新。目前尚不清楚这些指南如何影响实验室实践。本研究调查了基因检测实验室对这些CF筛查指南中两个组成部分的采用情况。对美国基因检测实验室的主任进行了一项调查。在190名受访者中，178人回答了有关CF检测的问题。近一半（49%）的实验室进行了某种类型的CF DNA检测；其中大多数（92%）进行了CF携带者筛查。10%的实验室使用23个突变组合进行CF筛查。79%的实验室将5T检测结果作为一项补充检测进行报告，而8%的实验室总是报告5T检测结果，7%的实验室从不报告。7%的实验室采用了这两项指南，80%的实验室采用了其中一项指南，13%的实验室未采用任何一项建议，这表明除临床指南外的其他因素可能会影响实验室的CF筛查实践。需要进一步研究以确定采用CF筛查指南是否会对基于人群的CF筛查项目产生重大的临床或经济影响。
