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Abstract

July-September 2016 | Vol. 9 | Issue 3 | Page No 13-18
Next Generation Sequencing in New Born Screening -Current Insights
Deepika Delsa Dean and Sarita Agarwal
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS), Lucknow, India
Address for Correspondence Email: saritasgpgi@gmail.com
 
Abstract
Newborn screening (NBS) program refers to a nation-wide or state-wide program that identifies and treats newborns with rare congenital conditions before the onset of symptoms, preventing premature death and serious disability in thousands of newborns. Following the great success of Next Generation Sequencing (NGS) technology in the clinical diagnosis of genetic disorders, a lot of expectations have been raised among researchers, clinicians and the public for its implementation in the newborn screening program (NBS). But in view of the ethical, legal and social issues revolving around the use of genome sequencing approaches in health-care and public health programs it is necessary to address these issues beforehand to avoid its long term failure. This review will focus on the realized and expected benefits of using NGS in state NBS program and will also highlight the major hurdles and practical difficulties that have to be considered for materialization of such a program.
 
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