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Clin Perinatol. 2014 Dec;41(4):993-1000. doi: 10.1016/j.clp.2014.08.016. Epub 2014 Sep 23.

Ethical issues in DNA sequencing in the neonate.

Author information

1
Medical College of Wisconsin, 8701 West Watertown Plank Road, Milwaukee, WI 53226, USA. Electronic address: ddimmock@mcw.edu.
2
Medical College of Wisconsin, 8701 West Watertown Plank Road, Milwaukee, WI 53226, USA.

Abstract

With the recognition of genetic disorders in the newborn, there is the potential to offer new lifesaving therapies. For other conditions such as hypothyroidism in Down syndrome or hypercalemia in the 22q11 microdeltion syndrome, the early identification of an untreatable condition permits prompt screening for potential comorbid conditions. DNA testing for disorders and DNA-based screening are rapidly evolving. With new more powerful tests, there is an increasing ability to see into a potential future and change the outcome for newborns. However, there remain significant ethical and structural issues to be considered before routine implementation of DNA testing.

KEYWORDS:

Newborn screening; Severe combined immunodeficiency polymerase chain reaction; Whole genome sequencing

PMID:
25459786
DOI:
10.1016/j.clp.2014.08.016
[Indexed for MEDLINE]

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