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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

The impact of uncertainty in genome-wide testing for autism spectrum disorder

Principal Investigator

Principal Investigator

Reiff, Marian

Description

Description

Chromosomal Microarray Analysis (CMA) is a genome-wide technology that allows for identification of genomic alterations, such as deletions and duplications, at an unprecedented resolution. New clinical guidelines recommend CMA testing for children with Autism Spectrum Disorder (ASD). Increasingly, families are offered testing, and there is an immediate need to help affected families cope with complex and uncertain test results. This study will investigate the psychosocial impact on parents of children with ASD receiving CMA testing, and identify potential interventions for managing the uncertainty associated with the test results and their implications.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

240000

Current Award Period

Current Award Period

2012-2013

Strategic Plan Question

Strategic Plan Question

Question 1: When Should I Be Concerned?

Strategic Plan Objective

Strategic Plan Objective

Yellow dot: Objective has some degree of funding, but less than the recommended amount. 1SE. 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.

Project Link

Project Link

The impact of uncertainty in genome-wide testing for autism spectrum disorder (External web link)

Institution

Institution

University of Pennsylvania

State/Country

State/Country

Pennsylvania

Project Number

Project Number

1R21HG006560-01

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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