Authors:
Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, ... Blackwell JM, Jamieson S, Tang D, Lassmann T, et al.
Authors notes:
Orphanet Journal of Rare Diseases. 2016;11(1):1-7.
Keywords:
Diagnosis, Genomics, Undiagnosed, Diagnostic odyssey, Clinical best practice, Policy, Precision public health
Abstract:
The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) refers to a genomic diagnostic platform operating within the Western Australian Government clinical services delivered through Genetic Services of Western Australia (GSWA).
GSWA has provided a state-wide service for clinical genetic care for 28 years and it serves a population of 2.5 million people across a geographical area of 2.5milion Km2.
Within this context, GSWA has established a clinically integrated genomic diagnostic platform in partnership with other public health system managers and service providers, including but not limited to the Office of Population Health Genomics, Diagnostic Genomics (PathWest Laboratories) and with executive level support from the Department of Health.
Herein we describe report presents the components of this service that are most relevant to the heterogeneity of paediatric clinical genetic care.