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

L Forrest; M Delatycki; L Curnow; M Gen Couns; L Skene; M Aitken

Journal article

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

L Forrest, M Delatycki, L Curnow, M Gen Couns, L Skene, M Aitken

Genetics in Medicine | Published : 2012

DOI: 10.1038/gim.2011.3

Abstract

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 of at-risk family members and family communication during the genetic consultation was recorded. Results: The proportion of at-risk family members who had genetic testing ranged from 11% to 18%. First-d..

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University of Melbourne Researchers

Laura Forrest Author

Martin Delatycki Author

Loane Skene Author

Related Projects (1)

Communicating genetic information in families: practical, legal, social and ethical issues

The outcomes of this study, will give evidence as to whether or not people do pass on genetic risk information to relatives, how they do it,..

Grants

Awarded by Australian Research Council

Funding Acknowledgements

The authors acknowledge Obioha Ukoumunne for his assistance with the statistical analysis. This work was supported by an Australian Research Council grant (DP 0556183) and by the Victorian Government's Operational Infrastructure Support Program. Martin Delatycki is funded through an NHMRC Practitioner Fellowship.