Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder
Sun F, Oristaglio J, Levy SE, Hakonarson H, Sullivan N, Fontanarosa J, Schoelles KM
Record ID 32015000844
English
Authors' objectives:
This Technical Brief collects and summarizes information on genetic tests clinically available in the United States to detect genetic markers that predispose to DDs. It also identifies, but does not systematically review, existing evidence addressing the tests' clinical utility. This Brief primarily focuses on patients with idiopathic or unexplained DDs, particularly intellectual disability, global developmental delay, and autism spectrum disorder. Several better-defined DD syndromes, including Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Smith-Magenis syndrome, velocardiofacial syndrome, and Williams syndrome are also included. Patient-centered health outcomes (e.g., functional or symptomatic improvement) and intermediate outcomes (e.g., changes in clinical decisions or
family reproductive decisions, the tests' diagnostic accuracy and analytic validity) are examined.
Authors' recommendations:
Our search of the GTR database identified 672 laboratory-developed tests offered by 63 providers in 29 States. We also identified one test cleared by the U.S. Food and Drug Administration. Common genetic testing methods used include array comparative genomic hybridization, microarray, DNA sequencing (the Sanger method or next-generation sequencing), and polymerase chain reaction. We did not identify any studies that directly assessed the impact of genetic testing on health outcomes. Most of the clinical studies identified for indirect assessment of clinical utility are case series reporting on a test's diagnostic yield.
Details
Project Status:
Completed
Year Published:
2015
URL for published report:
http://www.effectivehealthcare.ahrq.gov/ehc/products/602/2095/genetic-testing-developmental-disabilities-report-150629.pdf
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
United States
MeSH Terms
- Developmental Disabilities
- Child Development Disorders, Pervasive
- Intellectual Disability
- Autistic Disorder
Contact
Organisation Name:
Agency for Healthcare Research and Quality
Contact Address:
Center for Outcomes and Evidence Technology Assessment Program, 540 Gaither Road, Rockville, MD 20850, USA. Tel: +1 301 427 1610; Fax: +1 301 427 1639;
Contact Name:
martin.erlichman@ahrq.hhs.gov
Contact Email:
martin.erlichman@ahrq.hhs.gov
Copyright:
Agency for Healthcare Research and Quality (AHRQ)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.