Twin Research and Human Genetics

Articles

Key Informants’ Perspectives of Implementing Chromosomal Microarrays Into Clinical Practice in Australia

Erin Turbitta1a2, Jane L. Hallidaya2a3 and Sylvia A. Metcalfea1a2 c1

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

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 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)

Keywords:

  • chromosomal microarray;
  • clinical genomic medicine;
  • whole genome testing;
  • qualitative research

Correspondence

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: sylvia.metcalfe@mcri.edu.au

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