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Newborn Screening in the Era of Precision Medicine

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Translational Informatics in Smart Healthcare

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1005))

Abstract

As newborn screening success stories gained general confirmation during the past 50 years, scientists quickly discovered diagnostic tests for a host of genetic disorders that could be treated at birth. Outstanding progress in sequencing technologies over the last two decades has made it possible to comprehensively profile newborn screening (NBS) and identify clinically relevant genomic alterations. With the rapid developments in whole-genome sequencing (WGS) and whole-exome sequencing (WES) recently, we can detect newborns at the genomic level and be able to direct the appropriate diagnosis to the different individuals at the appropriate time, which is also encompassed in the concept of precision medicine. Besides, we can develop novel interventions directed at the molecular characteristics of genetic diseases in newborns. The implementation of genomics in NBS programs would provide an effective premise for the identification of the majority of genetic aberrations and primarily help in accurate guidance in treatment and better prediction. However, there are some debate correlated with the widespread application of genome sequencing in NBS due to some major concerns such as clinical analysis, result interpretation, storage of sequencing data, and communication of clinically relevant mutations to pediatricians and parents, along with the ethical, legal, and social implications (so-called ELSI). This review is focused on these critical issues and concerns about the expanding role of genomics in NBS for precision medicine. If WGS or WES is to be incorporated into NBS practice, considerations about these challenges should be carefully regarded and tackled properly to adapt the requirement of genome sequencing in the era of precision medicine.

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Acknowledgments

This study was supported by the National Natural Science Foundation of China (NSFC) (grant nos. 31670851, 31470821, and 91530320) and National Key R&D Programs of China (2016YFC1306605).

Author information

Authors and Affiliations

  1. Center for Systems Biology, Soochow University, No.1 Shizi Street, Suzhou, Jiangsu, 215006, China

    Lan Yang & Bairong Shen

  2. Center of prenatal diagnosis, Wuxi Maternal and Child Health Hospital, Nanjing Medical University, Wuxi, China

    Lan Yang

  3. School of Chemistry, Biology and Materials Engineering, Suzhou University of Science and Technology, No.1 Kerui road, Suzhou, Jiangsu, 215011, China

    Jiajia Chen

  4. Suzhou Institute of Biomedical Engineering and Technology, Chinese Academy of Sciences, Suzhou, Jiangsu, 215163, China

    Bairong Shen

  5. Medical College of Guizhou University, Guiyang, 550025, China

    Bairong Shen

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  1. Lan Yang
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  2. Jiajia Chen
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Correspondence to Bairong Shen .

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  1. Center for Systems Biology, Soochow University, Suzhou, Jiangsu, China

    Bairong Shen

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Yang, L., Chen, J., Shen, B. (2017). Newborn Screening in the Era of Precision Medicine. In: Shen, B. (eds) Translational Informatics in Smart Healthcare. Advances in Experimental Medicine and Biology, vol 1005. Springer, Singapore. https://doi.org/10.1007/978-981-10-5717-5_3

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