The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup
The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup
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DOI：
10.1097/gim.0b013e3181fea476
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发表时间：
2010-12-01
影响因子：
8.8
通讯作者：
Bentler, Kristi
中科院分区：
文献类型：
--
作者：
Berry, Susan A.;Jurek, Anne M.;Bentler, Kristi
第四区遗传学合作组织将来自该地区（伊利诺伊州、印第安纳州、肯塔基州、密歇根州、明尼苏达州、俄亥俄州和威斯康星州）各州卫生部门的代谢临床医生和随访专家聚集在一个工作组中，创建一个动态登记处，即先天性代谢缺陷信息系统，以方便收集通过新生儿血斑筛查确定的个体的长期随访信息。其理念是，通过开发一系列商定的核心数据元素和一般治疗策略，治疗计划的差异可以产生有关最佳治疗选择的证据，根据中链酰基辅酶A脱氢酶缺乏这一范式条件选择初始摄入和间隔随访的数据元素。确定了将用作所有条件的通用数据集的人口统计元素以及特定条件元素和定期获取的一般信息。受试者在获得前瞻性知情同意后入组；数据输入于 2007 年 1 月开始。附加条件已定义数据集并启动数据输入；截至 2009 年 7 月，共有 21 种疾病。基于 Web 的数据输入已采用 DocSite (R) 作为数据输入平台。通过工作组成员之间的持续合作，我们希望扩展可以使用这些数据探索的智力问题，扩大登记范围和参与的患者数量，并将登记系统整合到其他领域。基因医学 2010:12(12):S215-S219。
The Region 4 Genetics Collaborative has brought together metabolic clinicians and follow-up specialists from state departments of health in the region (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, and Wisconsin) in a workgroup to create a dynamic registry, the Inborn Errors of Metabolism Information System, to facilitate gathering information about long-term follow-up for individuals identified by newborn blood spot screening. With the concept that by developing a core series of agreed-on data elements and general treatment strategies, differences in treatment plans could yield evidence about optimal treatment choices, data elements for initial intake, and interval follow-up were selected based on a paradigm condition, medium-chain acyl-CoA dehydrogenase deficiency. Demographic elements that will be used as a common data set for all conditions were identified along with condition-specific elements and general information to be obtained at intervals. Subjects were enrolled after obtaining prospective informed consent; data entry began in January 2007. Additional conditions have had data sets defined and data entry initiated; 21 disorders as of July 2009. Web-based data entry has been employed using DocSite (R) as the platform for data entry. With continued collaboration among members of the workgroup, we hope to extend the intellectual questions that can be explored using this data, expand the spectrum of the registry and number of patients engaged, and integrate the registry into additional domains. Genet Med 2010:12(12):S215-S219.