新生儿神经发育障碍的查可能会加剧健康差异
Sarah A Sobotka1, Lainie Friedman Ross2,3
1Section of Developmental and Behavioral Pediatrics, Department of Pediatrics, The University of Chicago, Chicago, Illinois.
Pediatrics
|September 20, 2023
概括
新生儿的基因组测序可能会加剧神经发育障碍 (NDD) 的健康差异. 有针对性的方法对被诊断为NDD的儿童进行测序可以改善公平和理解.
科学领域:
- 遗传学 遗传学 是一个
- 公共卫生 公共卫生
- 儿科 儿科 儿科
背景情况:
- 新生儿查 (NBS) 从单一条件测试演变为使用双重质谱的综合面板.
- 推统一选小组促进国家统一性和公平性在NBS.
- 最近的建议建议将NBS扩展到包括所有遗传障碍的基因组测序,包括神经发育障碍 (NDD) 的基因组测序.
研究的目的:
- 分析扩大新生儿查的潜在风险,包括神经发育障碍 (NDD) 的基因组测序.
- 提出利用基因组测序在NDDs中的替代策略,以促进健康公平.
主要方法:
- 对新生儿普遍基因组测序对NDD风险的影响进行批判性分析.
- 全球新生儿基因组测序与针对诊断的NDD病例的有针对性的方法的比较.
主要成果:
- 针对NDD的通用基因组测序可能会加剧现有的健康差异,原因是随访的临床和遗传专业知识短缺.
- 对NDD的治疗方法不足以及对可能不会发展NDD的风险婴儿有限资源的错误分配的可能性是严重的担忧.
- 针对所有被诊断为NDD的儿童进行测序的有针对性的策略可以改善对遗传贡献的理解,并确保平等获得服务.
结论:
- 扩大新生儿查以包括NDD的基因组测序可能会加剧健康不平等.
- 一种更公平,更有效的方法是对已经被诊断出NDD的儿童进行基因组测序.
- 这种专注的战略可以更好地针对资源,并推进对不同人群中NDDs遗传基础的研究.
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