changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability精品.pdfVIP

RESEARCH ARTICLE Changing Interpretation of Chromosomal Microarray Over Time in a Community Cohort With Intellectual Disability Emma Palmer,1,2 Helen Speirs,3 Peter J Taylor,4 Glenda Mullan,4 Gill Turner,5,6 Stewart Einfeld,7 Bruce Tonge,8 and David Mowat1,2* 1 Department of Medical Genetics, Sydney Children’s Hospital, NSW, Australia 2 School of Women’s and Children’s Health, The University of NSW, Sydney, NSW, Australia 3 Ramaciotti Centre for Gene Function Analysis, University of NSW, Sydney, NSW, Australia 4South Eastern Area Laboratory Services (SEALS), NSW, Australia 5 Hunter Genetics, Hunter Area Health Service, Newcastle, NSW, Australia 6 University of Sydney, Sydney, NSW, Australia 7 Centre for Disability Research and Policy, Brain and Mind Research Institute, University of Sydney, Sydney, NSW, Australia 8 School of Psychology and Psychiatry, Monash University, Clayton, VIC, Australia Manuscript Received: 26 March 2013; Manuscript Accepted: 12 August 2013 Chromosomal microarray (CMA) is the first-line diagnostic test for individuals with intellectual disability, autism, or multiple congen- How to Cite this Article: ital anomalies, with a 10–20% diagnostic yield. An ongoing chal- Palmer E, Speirs H, Taylor PJ, Mullan G, lenge for the clinician and laboratory scientist is the interpretation Turner G, Einfeld S, Tonge B, Mowat D. of variants of uncertain significance (VOUS)—usually rare, unre- 2014. Changing interpretation of ported genetic variants. Laboratories differ in their threshold for chromosomal microarray over time in a reporting VOUS, and clinical practice varies in how this informa- community cohort with intellectual tion is conveyed to the family and what follow-up is arranged. disability. Workflows,websites, anddatabasesare constantlybeingupd