The Resource Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder, prepared for Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services ; prepared by ECRI Institute-Penn Medicine Evidence-based Practice Center ; investigators, Fang Sun, Jeff Oristaglio, Susan E. Levy, Hakon Hakonarson, Nancy Sullivan, Joann Fontanarosa, Karen M. Schoelles

Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder, prepared for Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services ; prepared by ECRI Institute-Penn Medicine Evidence-based Practice Center ; investigators, Fang Sun, Jeff Oristaglio, Susan E. Levy, Hakon Hakonarson, Nancy Sullivan, Joann Fontanarosa, Karen M. Schoelles

Label
Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder
Title
Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder
Statement of responsibility
prepared for Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services ; prepared by ECRI Institute-Penn Medicine Evidence-based Practice Center ; investigators, Fang Sun, Jeff Oristaglio, Susan E. Levy, Hakon Hakonarson, Nancy Sullivan, Joann Fontanarosa, Karen M. Schoelles
Creator
Contributor
Author
Issuing body
Sponsoring body
Subject
Genre
Language
eng
Summary
BACKGROUND: Genetics research in recent decades has discovered numerous genetic variants that help explain the etiology of developmental disabilities (DDs). Genetic tests (e.g., array comparative genomic hybridization, sequencing) are rapidly diffusing into clinical practice for diagnosing DDs or, more often, for determining their genetic etiology. An urgent need exists for a better understanding of these tests and their clinical utility. PURPOSE: 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. METHODS: We sought input from nine Key Informants to identify important clinical, technology, and policy issues from different perspectives. We searched the National Center for Biotechnology Information's Genetic Testing Registry (GTR) to identify genetic tests. A structured search of studies published since 2000 was performed to identify available evidence that addresses genetic tests' clinical utility. FINDINGS: 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
Member of
Cataloging source
NLM
http://library.link/vocab/creatorName
Sun, Fang
Government publication
federal national government publication
Illustrations
illustrations
Index
no index present
Literary form
non fiction
Nature of contents
  • dictionaries
  • bibliography
  • technical reports
NLM call number
WS 350.6
http://library.link/vocab/relatedWorkOrContributorName
  • United States
  • ECRI Institute-Penn Medicine Evidence-based Practice Center
  • Effective Health Care Program (U.S.)
Series statement
  • Technical brief
  • AHRQ publication
Series volume
  • no. 23
  • no. 15-EHC024-EF
http://library.link/vocab/subjectName
  • Developmental Disabilities
  • Developmental Disabilities
  • Intellectual Disability
  • Child Development Disorders, Pervasive
  • Genetic Testing
  • Child
  • Infant
  • United States
  • United States
Label
Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder, prepared for Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services ; prepared by ECRI Institute-Penn Medicine Evidence-based Practice Center ; investigators, Fang Sun, Jeff Oristaglio, Susan E. Levy, Hakon Hakonarson, Nancy Sullivan, Joann Fontanarosa, Karen M. Schoelles
Instantiates
Publication
Copyright
Note
"June 2015."
Bibliography note
Includes bibliographical references
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Control code
922019615
Extent
1 online resource (various pagings)
Form of item
online
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Other physical details
illustrations.
Specific material designation
remote
System control number
(OCoLC)922019615
Label
Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder, prepared for Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services ; prepared by ECRI Institute-Penn Medicine Evidence-based Practice Center ; investigators, Fang Sun, Jeff Oristaglio, Susan E. Levy, Hakon Hakonarson, Nancy Sullivan, Joann Fontanarosa, Karen M. Schoelles
Publication
Copyright
Note
"June 2015."
Bibliography note
Includes bibliographical references
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Control code
922019615
Extent
1 online resource (various pagings)
Form of item
online
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Other physical details
illustrations.
Specific material designation
remote
System control number
(OCoLC)922019615

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