Journal article

Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia

E Turbitt, JL Halliday, SA Metcalfe

Twin Research and Human Genetics | CAMBRIDGE UNIV PRESS | Published : 2013

Abstract

High-resolution genomic tests have the potential to revolutionize healthcare by vastly improving mutation detection. The use of chromosomal microarray (CMA) represents one of the earliest examples of these new genomic tests being introduced and disseminated in the clinic. While CMA has clear advantages over traditional karyotyping in terms of mutation detection, little research has investigated the process by which CMA was implemented in clinical settings. Fifteen key informants, six clinicians, and nine laboratory scientists from four Australian states were interviewed about their experiences during and in the time since CMA was adopted for clinical use. Participants discussed challenges su..

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Funding Acknowledgements

We thank the participants of this study for their time and for sharing their experiences and opinions. We thank Associate Professor David Amor for his input into the study design. We also thank Dr Alison Archibald for her comments on an earlier version of this manuscript. This work was supported by the Victorian Government's Operational Infrastructure Support Program.