In DepthBiomedicine

Baby genome screening needs more time to gestate

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Science  28 Oct 2016:
Vol. 354, Issue 6311, pp. 398-399
DOI: 10.1126/science.354.6311.398

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Summary

Two research projects exploring the risks and benefits of sequencing every newborn baby's genome are now delivering early results, and both are giving pause to newborn-sequencing advocates. One suggests that exome sequencing, which reads the protein-coding regions of a genome, is not comprehensive enough to replace standard newborn blood screening for rare diseases. And the other finds that parents are surprisingly uninterested in having their newborns sequenced. A variety of reasons appear to account for the tepid response, including concerns about privacy and insurance discrimination. Together, the findings suggest newborn sequencing it not yet ready to replace existing screening programs, which rely on biochemical analysis of newborn blood spots to test for dozens of disorders.