|Project Title||Principal Investigator||Institution|
|Genomic identification of autism loci||Eichler, Evan||University of Washington|
|Gene dosage imbalance in neurodevelopmental disorders||Ledbetter, David||Emory University|
|Clinical and gene signatures of ASDs||Lewis, Suzanne||University of British Columbia|
|IACC Strategic Plan Objective||2008||2009||2010||2011||2012||Total|
|Conduct at least one study to determine the positive predictive value and clinical utility (e.g., prediction of co-occurring conditions, family planning) of chromosomal microarray genetic testing for detecting genetic diagnoses for ASD in a clinical setting by 2012. |
IACC Recommended Budget: $9,600,000 over 5 years
|N/A ||N/A ||1.S.E |
|1.S.E. Funding: The recommended budget for this objective was partially met. |
Progress: Microarray testing is now recommended in AAP guidelines. The utility of this testing is more clear in cases where there is already a concern than for diagnostic use in the general population.
Remaining Gaps, Needs, and Opportunities: There is a need to better understand the relationship of genotype to phenotype, implications of genotype for treatment or medical management options, and to understand the potential impact of microarray testing on providers and families.