National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Rd, MS E-86, Atlanta, GA 30333, USA.
Ethn Health. 2011 Aug-Oct;16(4-5):377-88. doi: 10.1080/13557858.2010.541902.
The prevalence of hemoglobinopathies differs among populations due to genetic differences and due to the protective effects of the heterozygote (carrier) state against malaria. Because of the difference in genetic distribution, public health programs have weighed the ethical versus practical implications of ethnically targeted versus universal newborn, and where applicable, prenatal screening. We examine newborn and prenatal screening for hemoglobinopathies in relation to the use of 'race' and ethnicity to assess risk for genetic conditions. First, categories of race/ethnicity are social constructs, therefore, observed or self-identified broad racial/ethnic categories are correlated but not necessarily reliable indicators of geographic ancestry or genetic risk. Second, targeting based on ethnicity poses serious issues of logistics and equity for public health programs and clinical services. In the past, newborn screening for hemoglobinopathies in the United States and United Kingdom was often selective, targeted to women of certain ethnic groups or areas with large concentrations of ethnic minority groups. Presently, newborn screening for hemoglobinopathies is universal in both countries and programs emphasize that individuals of all ethnic backgrounds are at risk for carrying a hemoglobin genetic variant. Reported race/ethnicity is still used as a criterion for offering prenatal carrier testing in the United States, where it is not a public health responsibility. In the United Kingdom, prenatal screening under the National Health Service is universal in high-prevalence areas and in low-prevalence areas is targeted based on reported ancestry. The continued use of targeted prenatal screening in both countries reflects the different purposes and modes of laboratory testing in newborn and prenatal screening. The ethical imperative to identify as many affected infants with life-threatening conditions as possible in newborn screening programs is not applicable to prenatal carrier testing. Because newborn screening dried blood spot specimens are tested for multiple disorders, targeted screening poses serious logistical challenges which is not the case in prenatal screening.
由于遗传差异以及杂合子（携带者）状态对疟疾的保护作用，血红蛋白病的患病率因人群而异。由于遗传分布的差异，公共卫生计划权衡了针对特定种族的新生儿和产前筛查与普遍筛查在伦理和实际意义上的利弊。我们研究了与使用“种族”和族裔来评估遗传疾病风险相关的血红蛋白病的新生儿和产前筛查。首先，种族/族裔类别是社会建构，因此，观察到的或自我认同的广泛的种族/族裔类别是相关的，但不一定是地理起源或遗传风险的可靠指标。其次，基于族裔的目标定位对公共卫生计划和临床服务的后勤和公平性构成了严重挑战。过去，美国和英国的新生儿血红蛋白病筛查通常是选择性的，针对某些族裔群体的妇女或少数族裔群体集中的地区进行。目前，这两个国家都普遍对新生儿进行血红蛋白病筛查，并且计划强调，所有族裔背景的个体都有携带血红蛋白基因突变的风险。报告的种族/族裔仍然被用作在美国提供产前携带者检测的标准，而这在美国不是公共卫生的责任。在英国，国民保健制度下的产前筛查在高发病率地区是普遍的，在低发病率地区则根据报告的祖先情况进行目标定位。这两个国家继续使用有针对性的产前筛查反映了新生儿和产前筛查中实验室检测的不同目的和模式。在新生儿筛查计划中，确定尽可能多的患有危及生命的疾病的婴儿的道德必要性不适用于产前携带者检测。由于新生儿筛查干血斑标本检测多种疾病，因此针对目标筛查会带来严重的后勤挑战，而产前筛查则不会。
