Koopmans Joy, Hiraki Susan, Ross Lainie Friedman
Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Am J Med Genet A. 2006 Nov 1;140(21):2305-11. doi: 10.1002/ajmg.a.31463.
There is wide variability in conditions included in state newborn screening (NBS) panels. The American College of Medical Genetics (ACMG) was commissioned by Health Resources and Services Administration to develop a uniform NBS panel. Based on survey data, the ACMG committee proposed a panel that included cystic fibrosis (CF) and glucose-6-phosphate dehydrogenase deficiency (G6PD), although G6PD was excluded from their final recommendations. We examine the attitudes of pediatricians and genetic counselors concerning screening for these two conditions. Data were collected as part of two different studies. Koopmans and Ross surveyed a random sample of 600 pediatricians from four states based on their NBS panels. Hiraki et al. surveyed genetic counselors who were members of the National Society of Genetic Counselors (NSGC) listserv. For this analysis, we compare the health care professionals' (HCPs') attitudes toward a universal NBS program for CF and G6PD, and how their support is influenced by state policy and personal interest in testing their own children. Two hundred twenty-three pediatricians and 267 genetic counselors provided partial or complete responses. Pediatricians are more likely to support NBS for both CF (84%) and G6PD (58%) than genetic counselors (56%, P < 0.001 and 39%, P < 0.001, respectively). Both pediatricians and genetic counselors' attitudes toward screening correlate with interest in screening their own children (P < 0.001). Interest in CF screening also correlates with state policy (pediatricians, P < 0.001; genetic counselors, P < 0.025). The correlation of professional recommendations with state policies and personal preferences reinforces the need for systematic evidence-based reviews rather than reliance on stakeholder opinions for developing national guidelines.
各州新生儿筛查（NBS）项目所涵盖的疾病存在很大差异。美国医学遗传学学会（ACMG）受卫生资源与服务管理局委托，制定统一的NBS项目。基于调查数据，ACMG委员会提议的项目包括囊性纤维化（CF）和葡萄糖-6-磷酸脱氢酶缺乏症（G6PD），不过G6PD被排除在其最终建议之外。我们研究了儿科医生和遗传咨询师对这两种疾病筛查的态度。数据是两项不同研究的一部分。库普曼斯和罗斯基于四个州的NBS项目，对600名儿科医生进行了随机抽样调查。平木等人对美国国家遗传咨询师协会（NSGC）邮件列表中的遗传咨询师进行了调查。在此分析中，我们比较了医疗保健专业人员（HCPs）对CF和G6PD通用NBS项目的态度，以及他们的支持如何受到州政策和对自己孩子检测的个人兴趣的影响。223名儿科医生和267名遗传咨询师提供了部分或完整的回复。儿科医生比遗传咨询师更有可能支持CF（84%）和G6PD（58%）的NBS（分别为56%，P<0.001和39%，P<0.001）。儿科医生和遗传咨询师对筛查的态度都与对自己孩子筛查的兴趣相关（P<0.001）。对CF筛查的兴趣也与州政策相关（儿科医生，P<0.001；遗传咨询师，P<0.025）。专业建议与州政策和个人偏好的相关性，强化了在制定国家指南时需要进行系统的循证审查，而不是依赖利益相关者的意见。
