Newborn sequencing is only part of the solution for better child health.
Newborn sequencing is only part of the solution for better child health.
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DOI：
10.1016/j.lana.2023.100581
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发表时间：
2023-09
期刊：
影响因子：
--
通讯作者：
Brower, Amy
中科院分区：
文献类型：
--
作者：
Brunelli, Luca;Sohn, Heeju;Brower, Amy
新生儿筛查（NBS）的目的是在临床表现出现之前发现患有严重先天性疾病的新生儿。基因组学技术的进步导致了与传统NBS相一致的基于基因组的NBS（G-NBS）的发展的提议。G-NBS的支持者强调了G-NBS如何将出生时筛查的疾病数量扩大到数千种，并刺激罕见疾病新药和治疗方法的开发。一些专家指出了与G-NBS相关的道德困境。然而，关于新的G-NBS如何制定改善所有儿童健康的路线，对话还没有足够的紧迫性。我们对1959年至1995年美国1.3亿多名新生儿的分析表明，传统的NBS只有在与改善儿童医疗保健可及性的措施相结合时，才能改善婴儿死亡率和健康公平性。我们认为，只有当对基因组技术给予同样程度的关注，以促进公共卫生措施，促进所有儿童获得高质量的医疗保健时，新的G-NBS才会导致更好的儿童健康。
Newborn screening (NBS) aims to detect newborns with severe congenital diseases before the onset of clinical manifestations. Advancements in genomic technologies have led to proposals for the development of genomic-based NBS (G-NBS) in concert with traditional NBS. Proponents of G-NBS highlight how G-NBS could expand the number of diseases screened at birth to thousands and spur the development of new drugs and treatments for rare diseases. Balancing the excitement, some experts have pointed to the ethical dilemmas linked to G-NBS. The dialog, however, has yet to engage with sufficient urgency on how the new G-NBS might chart a course for improving the health of all children. Our analysis of more than 130 million births in the United States between 1959 and 1995 shows that traditional NBS led to improvements in infant mortality and health equity only when it was implemented in association with measures to improve healthcare access for children. We suggest that the new G-NBS will lead to better child health only when the same degree of attention devoted to genomic technologies will be directed to the promotion of public health measures that facilitate access to high-quality healthcare for all children.
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