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    Wilkins, Ella J. Archibald, Alison D. Sahhar, Margaret A. and White, Susan M. 2016. “It wasn't a disaster or anything”: Parents’ experiences of their child's uncertain chromosomal microarray result. American Journal of Medical Genetics Part A,

    Paul, Jean Metcalfe, Sylvia Stirling, Lesley Wilson, Brenda and Hodgson, Jan 2015. Analyzing communication in genetic consultations—A systematic review. Patient Education and Counseling, Vol. 98, Issue. 1, p. 15.

    Turbitt, E. Halliday, J.L. Amor, D.J. and Metcalfe, S.A. 2015. Preferences for results from genomic microarrays: comparing parents and health care providers. Clinical Genetics, Vol. 87, Issue. 1, p. 21.

    Turbitt, Erin Wiest, Michelle M Halliday, Jane L Amor, David J and Metcalfe, Sylvia A 2014. Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings. European Journal of Human Genetics, Vol. 22, Issue. 10, p. 1225.


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

  • Erin Turbitt (a1) (a2), Jane L. Halliday (a2) (a3) and Sylvia A. Metcalfe (a1) (a2)
  • DOI:
  • Published online: 22 July 2013

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.

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Corresponding author
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:
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S. Ali-Khan , A. Daar , C. Shuman , P. Ray , & S. Scherer (2009). Whole genome scanning: Resolving clinical diagnosis and management amidst complex data. Pediatric Research, 66, 357363.

M. J. H. Baars , A. J. J. A. Scherpbier , L. W. Schuwirth , L. Henneman , F. A. Beemer , J. M. Cobben ,. . .L. P. ten Kate (2005). Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. Genetics in Medicine, 7, 295301.

J. S. Berg , M. J. Khoury , & J. P. Evans (2011). Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time. Genetics in Medicine, 13, 499504.

L. G. Biesecker (2012). Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: Lessons from the ClinSeq project. Genetics in Medicine, 14, 393398.

P. Borry , L. Henneman , P. Lakeman , ten L. P. Kate , M. C. Cornel , & H. C. Howard (2011). Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Human Reproduction, 26, 972977.

D. L. Bruno , S. M. White , D. Ganesamoorthy , T. Burgess , K. Butler , S. Corrie ,. . .H. R. Slater (2011). Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. Journal of Medical Genetics, 48, 831839.

J. Corbin , & A. Strauss (1990). Grounded theory research: procedures, canons, and evaluative criteria. Qualitative Sociology, 13, 321.

S. Darilek , P. Ward , A. Pursley , K. Plunkett , P. Furman , P. Magoulas ,. . .C. M. Eng (2008). Pre-and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genetics in Medicine, 10, 1318.

N. R. Downing , J. K. Williams , S. Daack-Hirsch , M. Driessnack , & C. M. Simon (2013). Genetics specialists’ perspectives on disclosure of genomic incidental findings in the clinical setting. Patient Education and Counseling, 90, 133138.

W. G. Feero , A. E. Guttmacher , H. C. Mefford , M. L. Batshaw , & E. P. Hoffman (2012). Genomics, intellectual disability, and autism. The New England Journal of Medicine, 366, 733743.

A. Gijsbers , J. Lew , C. Bosch , J. Schuurs-Hoeijmakers , A. van Haeringen , N. den Hollander ,. . .E. Bakker (2009). A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: Test arrays first. European Journal of Human Genetics, 17, 13941402.

R. Green , J. Berg , G. Berry , & L. Biesecker (2012). Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genetics in Medicine, 14, 405410.

E. K. Harvey , C. E. Fogel , M. Peyrot , K. D. Christensen , S. F. Terry , & J. D. McInerney (2007). Providers’ knowledge of genetics: A survey of 5915 individuals and families with genetic conditions. Genetics in Medicine, 9, 259267.

E. J. F. Houwink , L. Henneman , M. Westerneng , S. J. van Luijk , M. C. Cornel , J. G. Dinant , & C. van der Vleuten (2012). Prioritization of future genetics education for general practitioners: A Delphi study. Genetics in Medicine, 14, 323329.

X. Lu , C. A. Shaw , A. Patel , J. Li , M. L. Cooper , W. R. Wells ,. . .P. A. Ward (2007). Clinical implementation of chromosomal microarray analysis: Summary of 2513 postnatal cases. PLoS ONE, 2, e327.

S. Metcalfe , R. Hurworth , J. Newstead , & R. Robins (2002). Needs assessment study of genetics education for general practitioners in Australia. Genetics in Medicine, 4, 7177.

D. T. Miller , M. P. Adam , S. Aradhya , L. G. Biesecker , A. R. Brothman , N. P. Carter ,. . .D. H. Ledbetter (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. The American Journal of Human Genetics, 86, 749764.

A. C. Need , V. Shashi , Y. Hitomi , K. Schoch , K. V. Shianna , M. T. McDonald ,. . .D. B. Goldstein (2012). Clinical application of exome sequencing in undiagnosed genetic conditions. Journal of Medical Genetics, 49, 353361.

E. E. Palmer , G. B. Peters , & D. Mowat (2012). Chromosome microarray in Australia: A guide for paediatricians. Journal of Paediatrics and Child Health, 48, E59E67.

M. Reiff , B. A. Bernhardt , S. Mulchandani , D. Soucier , D. Cornell , R. E. Pyeritz , & N. B. Spinner (2012). ‘What does it mean?’: Uncertainties in understanding results of chromosomal microarray testing. Genetics in Medicine, 14, 250258.

M. Reiff , K. Ross , S. Mulchandani , K. J. Propert , R. E. Pyeritz , N. B. Spinner , & B. A. Bernhardt (2013). Physicians’ perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clinical Genetics, 83, 2330.

S. Topper , C. Ober , & S. Das (2011). Exome sequencing and the genetics of intellectual disability. Clinical Genetics, 80, 117126.

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