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Newborn Screening in the Era of Precision Medicine

  • Lan Yang
  • Jiajia Chen
  • Bairong Shen
Chapter
Part of the Advances in Experimental Medicine and Biology book series (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.

Keywords

Newborn screening Precision medicine Whole-genome sequencing Whole-exome sequencing Genomics 

Notes

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).

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Copyright information

© Springer Nature Singapore Pte Ltd. 2017

Authors and Affiliations

  1. 1.Center for Systems BiologySoochow UniversitySuzhouChina
  2. 2.Center of prenatal diagnosis, Wuxi Maternal and Child Health HospitalNanjing Medical UniversityWuxiChina
  3. 3.School of Chemistry, Biology and Materials EngineeringSuzhou University of Science and TechnologySuzhouChina
  4. 4.Suzhou Institute of Biomedical Engineering and TechnologyChinese Academy of SciencesSuzhouChina
  5. 5.Medical College of Guizhou UniversityGuiyangChina

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