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An audit of clinical service examining the uptake of genetic testing by at-risk family members

Forrest, Laura; Delatycki, Martin B; Curnow, Lisette; Skene, Loane; Aitken, MaryAnne


Purpose: The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. Methods: A clinical audit was undertaken using genetics files from Genetic Health Services Victoria. Data were extracted from the files regarding the number of at-risk family members and the proportion tested. Information was also collected about whether discussion...[Show more]

CollectionsANU Research Publications
Date published: 2012
Type: Journal article
Source: Genetics in Medicine
DOI: 10.1038/gim.2011.3


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