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Mol Diagn Ther. 2022 May;26(3):253-261. doi: 10.1007/s40291-022-00590-6. Epub 2022 May 4.
Molecular diagnostics and therapies play a central role in an era of precision medicine, with the promise of more accurate diagnoses and more effective treatments. Universal newborn screening (NBS) identifies those health conditions that must be treated in early life and before clinical symptoms become apparent, to maximize effectiveness, prevent morbidity, and reduce or eliminate mortality. However, enthusiasm about NBS as the logical platform for early identification is tempered by the realization that NBS under public health authority exists in a complex ecology in which technology and medicine intersect with politics, ethics, advocacy, and resource constraints-a classic translational challenge that is exacerbated when considering the possible introduction of genome sequencing and molecular therapies in NBS. Substantial change is inevitable if the current model of NBS can be prepared for an envisioned future of greatly expanded molecular diagnostics and therapies. A window of opportunity for modernization now exists, but what changes are needed? The purpose of this commentary is to identify five major initiatives to stimulate focused discussion on how modernization might be achieved: (1) build systems for more rapid collection and integration of extant data relevant to NBS; (2) establish a national network of NBS research centers to design and conduct prospective research studies addressing critical NBS questions; (3) create a network of regional NBS laboratories to expedite state implementation of new methodologies or screening for newly recommended conditions; (4) establish a new stream of federal funding to provide financial support for states and incentivize national harmonization; and (5) integrate solutions in a way that is strategic and effective. Some aspects of these recommendations suggest that radical policy changes are needed to implement molecular testing in NBS and take advantage of emerging molecular therapies. I focus on recommendations for modernizing NBS in the US, some of which may be applicable in other countries.
分子诊断和治疗在精准医学时代发挥着核心作用，有望实现更准确的诊断和更有效的治疗。普遍新生儿筛查（NBS）可识别那些必须在生命早期和临床症状出现之前进行治疗的健康状况，以最大限度地提高疗效，预防发病，减少或消除死亡率。然而，由于认识到公共卫生当局实施的 NBS 存在于技术和医学与政治、伦理、宣传和资源限制交叉的复杂生态系统中，因此对 NBS 作为早期识别的合理平台的热情受到了抑制——当考虑在 NBS 中引入基因组测序和分子治疗时，这种经典的转化挑战就更加严重。如果当前的 NBS 模式能够为设想的未来广泛的分子诊断和治疗做好准备，那么就不可避免地需要进行重大变革。现在存在一个现代化的机会窗口，但需要进行哪些变革？本文的目的是确定五项主要举措，以激发对如何实现现代化的重点讨论：（1）建立系统，以便更快速地收集和整合与 NBS 相关的现有数据；（2）建立 NBS 研究中心网络，以设计和开展解决关键 NBS 问题的前瞻性研究；（3）创建区域 NBS 实验室网络，以加快各州采用新方法或对新推荐条件进行筛查；（4）建立新的联邦资金流，为各州提供财政支持，并激励国家协调；（5）以战略和有效的方式整合解决方案。这些建议的某些方面表明，需要进行激进的政策变革，以便在 NBS 中实施分子检测并利用新兴的分子治疗。我重点介绍了美国 NBS 现代化的建议，其中一些建议可能适用于其他国家。
