According to the announcement, the study, "Association between Microdeletion and Microduplication at 16p11.2 and Autism," published Jan. 9 in The New England Journal of Medicine online, represents the largest, most complete genome scan for ASDs to date. Completed in October, it used three independent data sources. One analysis was conducted by the Autism Consortium, a collaboration of 14 leading universities and medical centres including Children's Hospital Boston. Another was completed by deCODE Genetics Inc., in Iceland. The third was performed at Children's Hospital Boston using clinical samples from its own patients.
Researchers from Children's Hospital Boston used Agilent comparative genomic hybridization (CGH) microarrays to screen samples from 936 children. The team used Agilent's online design tool, eArray, to develop custom microarrays for the study. "The ability to reliably find extremely small missing or extra pieces of DNA has evolved just within the past six to eight months," noted co-author Dr Yiping Shen, director of Research and Development at the Children's Genetic Diagnostic Laboratory.
The researchers found five instances of the deletion among 512 patients referred for developmental delay or suspected ASDs. In addition, team identified four patients with a duplication rather than a deletion.
"Our findings certainly have the potential for use in evaluating children for development delay and autism," says Dr Bai-Lin Wu, director of the Children's Hospital Genetic Diagnostic Laboratory, leader of the Children's team on the study and a senior author of the paper.
"Genomics researchers demand tools that give them the freedom to design their own types of experiments, deliver reproducible results and spend fewer dollars per experiment," said Dr Yvonne Linney, vice president and general manager, Genomics, at Agilent. "This work is a good example of how far the technology has come."