Long-term follow-up in newborn screening: the role of collaboration.
Long-term follow-up in newborn screening: the role of collaboration.
复制标题
新生儿筛查的长期随访：合作的作用。
DOI：
10.1038/gim.2016.99
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Wasserstein,MelissaP
中科院分区：
文献类型：
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作者：
Wasserstein,MelissaP
邀请评论以及获得机构审查委员会批准、获得家庭同意以及输入数据的时间无疑是一个令人畏惧的前景。尽管存在这些障碍，IBEM-IS 不仅实现了而且超越了其目标，并且显然 NBS 社区认识到了其重要性。目前，全美已有30多个中心积极参与。推荐统一筛查小组已开始收集大多数疾病的数据。近 2,000 名患者同意参与，并输入了超过 50 万个数据点。领导这个项目的卓越团队已经证明，有价值的想法加上深思熟虑的计划和和蔼可亲的团队合作可以使令人惊奇的事情发生。到目前为止，我们的努力取得了丰硕的成果。最近发表了一份报告，描述了使用 IBEM-IS 来说明 3-甲基巴豆酰辅酶 A 羧化酶缺乏症儿童的结果。 3 IBEM-IS 数据库还用于描述极长链酰基辅酶 A 脱氢酶缺乏症个体的结果和基因型-表型相关性。 4 这些只是开始； IBEM-IS 为 NBS 实践提供信息的潜力是巨大的。看到目前正在使用的临床实践的多样性，发现哪些最有效地改善结果，并客观地确定早期检测是否确实可以改善特定疾病的患者结果，这将是令人兴奋的。此外，IBEM-IS 中广泛的社会经济数据可能有助于确定与患者失访相关的因素，甚至可能有助于确定提高依从性的途径。尽管取得了积极的中期成果，但人们仍然对 IBEM-IS 的长期可持续性感到担忧。一项挑战源于可能创建相似但不同的数据库来捕获有关特定疾病的长期结果数据。由于大多数中心没有能力参与多个数据库项目，因此本已有限的数据将在竞争项目之间分配，这最终将限制此类努力的效用。毕竟，
INVITED COMMENTARY and time to obtain institutional review board approvals, receive consent from families, and enter data was an undoubtedly formidable prospect. Despite these hurdles, IBEM-IS has not only achieved but surpassed its goals, and it is clear that the NBS community recognizes its importance. At present, more than 30 centers across the United States are active participants. Data collection has started for most of the disorders on the Recommended Uniform Screening Panel. Almost 2,000 patients have consented to participate, and more than half a million data points have been entered. The remarkable team leading this project has proven that worthy ideas coupled with thoughtful planning and affable teamwork can make amazing things happen.So far, the efforts have been fruitful. A report describing the use of the IBEM-IS to illustrate the outcomes of children with 3-methylcrotonyl-CoA carboxylase deficiency was recently published. 3 The IBEM-IS database was also used to describe outcomes and genotype-phenotype correlations of individuals with very-long-chain acyl-CoA dehydrogenase deficiency. 4 These are just the beginning; the potential of IBEM-IS to inform NBS practices is substantial. It will be exciting to see the diversity of clinical practices that are currently in use, to discover which are the most effective at improving outcomes, and to objectively determine whether early detection does in fact improve patient outcomes for particular disorders. In addition, the wide breadth of socioeconomic data in the IBEM-IS may help define the factors associated with patients being lost to follow-up, and may even help dictate paths to improve adherence. Despite the positive interim results, concern remains about the long-term sustainability of the IBEM-IS. One challenge stems from the potential creation of similar but distinct databases to capture long-term outcome data about particular disorders. Because most centers will not have the capacity to participate in more than one database project, the already limited data will be split between competing projects, which will ultimately restrict the utility of such endeavors. After all, the
影响因子：
3.8
作者：
Pena LD;van Calcar SC;Hansen J;Edick MJ;Walsh Vockley C;Leslie N;Cameron C;Mohsen AW;Berry SA;Arnold GL;Vockley J;IBEMC
通讯作者：
IBEMC
影响因子：
8
作者：
R. Guthrie;Ada Susi
通讯作者：
R. Guthrie;Ada Susi
影响因子：
3.8
作者：
Forsyth R;Vockley CW;Edick MJ;Cameron CA;Hiner SJ;Berry SA;Vockley J;Arnold GL;Inborn Errors of Metabolism Collaborative
通讯作者：
Inborn Errors of Metabolism Collaborative