Newborn screening (NBS) represents the largest volume of genetic testing. The 45-year history of NBS has demonstrated its benefits, as well as the importance of an evidence base. The recent addition of tandem mass spectrometry (MS/MS) resulted in a fivefold increase in the number of tests. Experience with MS/MS also showed that laboratory tests are just one part of the NBS system. The lessons learned from NBS will provide important insights as we move into the predictive, preventive, and personalized era of genomic medicine.

中文翻译：

---

扩大新生儿筛查：对基因组医学的意义。

新生儿筛查（NBS）代表了最大数量的基因检测。国家统计局已有45年的历史证明了它的好处以及证据基础的重要性。最近添加的串联质谱分析（MS / MS）使测试数量增加了五倍。MS / MS的经验还表明，实验室测试只是NBS系统的一部分。随着我们进入基因组医学的预测性，预防性和个性化时代，从国家统计局获得的经验教训将提供重要的见解。