American College of Medical Genetics recommendatio... [Genet Med. 2011] - PubMed result

 
Genet Med. 2011 Jun 15. [Epub ahead of print]

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.
Kearney HM, South ST, Wolff DJ, Lamb A, Hamosh A, Rao KW; A Working Group of the American College of Medical Genetics.

Source
From the 1Fullerton Genetics Center, Mission Health System, Asheville, North Carolina; 2ARUP laboratories, Departments of Pediatrics and Pathology, University of Utah, Salt Lake City, Utah; 3Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina; 4Signature Genomics, Spokane, Washington; 5Department of Pediatrics and the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland; and 6Departments of Pediatrics and Pathology, School of Medicine, the University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

Abstract

Genomic copy number microarrays have significantly increased the diagnostic yield over a karyotype for clinically significant imbalances in individuals with developmental delay, intellectual disability, multiple congenital anomalies, and autism, and they are now accepted as a first tier diagnostic test for these indications. As it is not feasible to validate microarray technology that targets the entire genome in the same manner as an assay that targets a specific gene or syndromic region, a new paradigm of validation and regulation is needed to regulate this important diagnostic technology. We suggest that these microarray platforms be evaluated and manufacturers regulated for the ability to accurately measure copy number gains or losses in DNA (analytical validation) and that the subsequent interpretation of the findings and assignment of clinical significance be determined by medical professionals with appropriate training and certification. To this end, the American College of Medical Genetics, as the professional organization of board-certified clinical laboratory geneticists, herein outlines recommendations for the design and performance expectations for clinical genomic copy number microarrays and associated software intended for use in the postnatal setting for detection of constitutional abnormalities.

PMID:21681105[PubMed - as supplied by publisher]

American College of Medical Genetics recommendatio... [Genet Med. 2011] - PubMed result