Genetics and global healthcare

Bittles, AH

The journal of the Royal College of Physicians of Edinburgh, May 2014


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,1 and whole-genome sequencing for prenatal diagnosis of
chromosomal anomalies,2 in the differential diagnosis of acute neonatal disorders,3
and in devising improved treatment protocols.4 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.

Lay summary


Further info

Click here to view the publication at the journal website