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Annu Rev Genomics Hum Genet. 2012;13:381-93. doi: 10.1146/annurev-genom-090711-163741. Epub 2012 May 1.

Ethical issues with newborn screening in the genomics era.

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  • 1Child Health Evaluation and Research (CHEAR) Unit, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.


Continued technological advances have made the prospect of routine whole-genome sequencing (WGS) imminent. To date, much of the discussion about WGS has focused on its application and use in clinical medicine. Relatively little attention has been paid to the potential integration of WGS into newborn screening programs. Given the structure and scope of these programs, it is possible that the early applications of WGS will occur in state-run newborn screening programs. Assessment of the pressing ethical issues currently facing the newborn screening community will provide insight into the challenges that lie ahead in the genomics era.

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