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Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder
Technical Briefs, No. 23
Investigators: Fang Sun, MD, PhD, Jeff Oristaglio, PhD, Susan E Levy, MD, MPH, Hakon Hakonarson, MD, PhD, Nancy Sullivan, BA, Joann Fontanarosa, PhD, and Karen M Schoelles, MD, MS, FACP.
Author Information and AffiliationsStructured Abstract
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.
Contents
- Preface
- Acknowledgments
- Key Informants
- Peer Reviewers
- Background
- Methods
- Findings
- Genetic Tests for Developmental Disabilities (Guiding Questions 1 and 2)
- Evidence for Addressing Clinical Utility (Guiding Question 3)
- Studies Addressing Economic, Ethical, Social, and Legal Issues (Guiding Question 4)
- Clinical Guidelines (Guiding Question 4)
- Emerging Technologies and Ongoing Trials (Guiding Question 4)
- Systematic Reviews and Technology Assessment Reports (Guiding Question 4)
- Summary and Implications
- References
- Appendix A Literature Search Methods
- Appendix B Genetic Testing Overview
- Appendix C Definition of Terms
- Appendix D Genetic Tests for Developmental Disabilities
- Appendix E Ongoing Clinical Trials
- Appendix F Excluded Studies Based on Review of Full-Length Articles
- Appendix G Abbreviations and Acronyms
- Appendix H Appendix Reference List
Prepared for: Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services1, Contract No. 290-2012-00011-I, Prepared by: ECRI Institute-Penn Medicine Evidence-based Practice Center, Plymouth Meeting, PA
Suggested 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. Technical Brief No. 23. (Prepared by the ECRI Institute-Penn Medicine Evidence-based Practice Center under Contract No. 290-2012-00011-I.) AHRQ Publication No.15-EHC024-EF. Rockville, MD: Agency for Healthcare Research and Quality; June 2015. www.effectivehealthcare.ahrq.gov/reports/final.cfm.
This report is based on research conducted by the ECRI-Penn Medicine AHRQ Evidence-based Practice Center (EPC) under contract to the Agency for Healthcare Research and Quality (AHRQ), Rockville, MD (290-2012-00011-I). The findings and conclusions in this document are those of the authors, who are responsible for its contents; the findings and conclusions do not necessarily represent the views of AHRQ. Therefore, no statement in this report should be construed as an official position of AHRQ or of the U.S. Department of Health and Human Services.
The information in this report is intended to help health care decisionmakers-patients and clinicians, health system leaders, and policymakers, among others-make well-informed decisions and thereby improve the quality of health care services. This report is not intended to be a substitute for the application of clinical judgment. Anyone who makes decisions concerning the provision of clinical care should consider this report in the same way as any medical reference and in conjunction with all other pertinent information, in the context of available resources and circumstances presented by individual patients.
AHRQ or U.S. Department of Health and Human Services endorsement of such derivative products that may be developed from this report, such as clinical practice guidelines, other quality enhancement tools, or reimbursement or coverage policies may not be stated or implied.
None of the investigators have any affiliation or financial involvement that conflicts with the material presented in this report.
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.ahrq.gov
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