title: Genetics and global healthcare.
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,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.
authors.forename: A H
authors.initials: AH
authors.lastname: Bittles
mesh_terms: D002869:Chromosome Aberrations; D003695:Delivery of Health Care; D005820:Genetic Testing; D005823:Genetics; D014943:Global Health; D006801:Humans; D008607:Intellectual Disability
keywords: Burden of disease; Disease registries; Genetics; genomics; rare diseases