Logo image
Genetics and global healthcare
Journal article   Open access   Peer reviewed

Genetics and global healthcare

A.H. Bittles
The Journal of the Royal College of Physicians of Edinburgh, Vol.43(1), pp.7-10
2013
pdf
13Bittles_JRCPE.pdfDownloadView
Published (Version of Record) Open Access
url
Link to Published Version *Subscription may be requiredView

Abstract

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.

Details

UN Sustainable Development Goals (SDGs)

This output has contributed to the advancement of the following goals:

#3 Good Health and Well-Being

Source: InCites

Metrics

384 File views/ downloads
122 Record Views
Logo image