Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening | Zendy

Jonathan S. Berg | Zendy; Cynthia M. Powell | Zendy

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Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening

Author(s) -

Jonathan S. Berg,

Cynthia M. Powell

Publication year - 2015

Publication title -

cold spring harbor perspectives in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.853

H-Index - 105

eISSN - 2472-5412

pISSN - 2157-1422

DOI - 10.1101/cshperspect.a023150

Subject(s) - pace , exome sequencing , whole genome sequencing , genome , newborn screening , exome , augment , computational biology , computer science , medicine , biology , genetics , geography , mutation , gene , linguistics , philosophy , geodesy

Since newborn screening (NBS) began in the 1960s, technological advances have enabled its expansion to include an increasing number of disorders. Recent developments now make it possible to sequence an infant's genome relatively quickly and economically. Clinical application of whole-exome and whole-genome sequencing is expanding at a rapid pace but presents many challenges. Its utility in NBS has yet to be demonstrated and its application in the pediatric population requires examination, not only for potential clinical benefits, but also for the unique ethical challenges it presents.

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