a1 Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia
a2 Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
a3 Public Health Genetics, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia
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 such as result interpretation and communication. Strengths were also highlighted, including the collaborative approaches of some centers. Clinical experiences and opinions can inform larger studies with a range of stakeholders, including patients. The historical perspectives from this retrospective study can be helpful in guiding the implementation of future genomic technologies such as whole exome/genome sequencing.
(Received April 30 2013)
(Accepted May 20 2013)
c1 address for correspondence: Professor Sylvia A. Metcalfe, Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville Vic 3052, Australia. E-mail: email@example.com