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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 |
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Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation Sun F, Oristaglio J, Levy SE, Hakonarson H, Sullivan N, Fontanarosa J, Schoelles KM. Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder. Rockville: Agency for Healthcare Research and Quality (AHRQ). Technical Brief No. 23. 2015 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' conclusions 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. Indexing Status Subject indexing assigned by CRD MeSH Autistic Disorder; Child Development Disorders, Pervasive; Developmental Disabilities; Genetic Testings; Intellectual Disability Language Published English Country of organisation United States English summary An English language summary is available. Address for correspondence AHRQ, Center for Outcomes and Evidence Technology Assessment Program, 540 Gaither Road, Rockville, MD 20850, USA Email: AHRQTAP@ahrq.hhs.gov AccessionNumber 32015000844 Date abstract record published 13/07/2015 |
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