An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).
An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).
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代谢协作（IBEMC）先天性缺陷中基因测试利用、遗传咨询和血缘关系的探索。
DOI：
10.1007/s10897-017-0100-0
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发表时间：
2017
影响因子：
1.9
通讯作者：
InbornErrorsofMetabolismCollaborative
中科院分区：
文献类型：
--
作者：
Stein,QuinnP;Vockley,CateWalsh;Edick,MathewJ;Zhai,Shaohui;Hiner,SallyJ;Loman,RebeccaS;Davis-Keppen,Laura;Zuck,TaylorA;Cameron,CynthiaA;Berry,SusanA;InbornErrorsofMetabolismCollaborative
先天代谢错误协作(IBEMC)包括来自29个机构的临床医生收集数据，以加强对可通过新生儿筛查诊断的代谢状况的了解。收集的数据包括住院情况、检测结果、服务和长期结果。通过对这些数据的评估，我们试图确定提供遗传咨询的频率，进行基因测试的频率，并确定该人群中的血亲比率。进行数据查询，提取/分析以下因素：当前年龄、代谢状况、是否提供遗传咨询(以及由谁提供)、是否进行基因检测以及血缘关系。95.8%的家庭接受遗传咨询，68.6%的病例由遗传咨询师提供咨询。68.0%的受试者接受了基因测试，其中脂肪酸氧化障碍的使用率最高(85.1%)。血缘比例为2.38%。在这一大规模的全国性合作中，遗传咨询的频率很高，尽管在三分之一的情况下没有遗传顾问参与。此外，虽然代谢性疾病的诊断历来是通过生化方法进行的，但目前分子测试的使用率很高，表明DNA测试正在被纳入诊断评估--特别是对于脂肪酸氧化障碍，因为潜在的基因有助于预测临床表现。
The Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently genetic counseling had been provided, how often genetic testing was performed, and also determine the consanguinity rate in this population. A data query was performed with the following elements abstracted/analyzed: current age, metabolic condition, whether genetic counseling was provided (and by whom), whether genetic testing was performed, and consanguinity. Genetic counseling was provided to families 95.8% of the time and in 68.6% of cases by a genetic counselor. Genetic testing was performed on 68.0% of subjects, with usage highest for fatty-acid-oxidation disorders (85.1%). The rate of consanguinity was 2.38%. Within this large national collaborative there is a high frequency of genetic counseling, though in one-third of cases a genetic counselor has not been involved. Additionally, while metabolic conditions have historically been diagnosed biochemically, there is currently high utilization of molecular testing suggesting DNA testing is being incorporated into diagnostic assessments - especially for fatty-acid-oxidation disorders where the underlying genotype helps predict clinical presentation.