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Genetics and global healthcare

Bittles, A.H. (2013) Genetics and global healthcare. The Journal of the Royal College of Physicians of Edinburgh, 43 (1). pp. 7-10.

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During the course of the last decade there has been extensive discussion on the role of genetics and genomics in global healthcare, with major diagnostic advances regularly announced, such as exome sequencing to identify and classify de novo, autosomal and X-linked mutations in people with severe intellectual disability, and whole-genome sequencing for prenatal diagnosis of chromosomal anomalies, in the differential diagnosis of acute neonatal disorders, and in devising improved treatment protocols. There are, however, a number of basic issues that need to be addressed if advances of this nature are to be more widely translated in terms of healthcare.

Publication Type: Journal Article
Murdoch Affiliation: Centre for Comparative Genomics
Publisher: Royal College of Physicians of Edinburgh
Copyright: © 2013 Royal College of Physicians of Edinburgh
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