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    Genomic microarray   and whole exome sequencing 

    Final evidence report 

    December 19, 2017  

     

       

     

     Health Technology Assessment Program (HTA) 

    Washington State Health Care Authority  PO Box 42712 

    Olympia, WA 98504‐2712  (360) 725‐5126  

    www.hca.wa.gov/hta  [email protected] 

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    Prepared by: RTI International–Evidence-based Practice Center Research Triangle Park, NC 27709 Lead Investigator: Nedra Whitehead, PhD

    This health technology assessment is based on research conducted by RTI International under contract to the Washington Health Care Authority (HCA) (Contract No. K1959). 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 the Washington HCA. Therefore, no statement in this report should be construed as an official position of Washington HCA. The information in this report is intended to help the Washington HCA make well-informed coverage determinations 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 (i.e., in the context of available resources and circumstances presented by individual patients). This document is in the public domain and may be used and reprinted without permission except those copyrighted materials that are clearly noted in the document. Further reproduction of those copyrighted materials is prohibited without the specific permission of copyright holders. None of the investigators has any affiliations or financial involvement that conflicts with the material presented in this report. Acknowledgments The following individuals contributed to this report: Co-Investigators: Leila Kahwati, MD MPH; Sreelatha Meleth, PhD Analysts: Rachel Clark, BA; Sonya Goode, MPH; Tracey Grant, MS; Josh Green, BA;

    Nana Haywood, MPH; Sara Kennedy, MPH; Jennifer Taylor, PhD

    Library/Document Preparation: Mark Howell, MLS; Loraine Monroe; Laura Small, BA

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    We thank the following reviewers for their thoughtful comments on the draft report: Dan Jonas, MD, MPH. Associate Professor of Medicine, Section Chief for Research, Division of General Medicine & Clinical Epidemiology, Co-Director, RTI-UNC Evidence-based Practice Center, Director, Program on Medical Practice and Prevention, Cecil G. Sheps Center for Health Services Research Christa Lese Martin, PhD, FACMG. Director & Professor, Autism & Developmental Medicine Institute, Geisinger The members of the public who reviewed and commented on our draft report.  

  • WA – Health Technology Assessment  December 19, 2017 

     

    Genetic microarray and whole exome sequencing: Final evidence report  i 

    Contents Structured Abstract ...................................................................................................................... v  Executive Summary ................................................................................................................ ES-1 

    Background ...................................................................................................................... ES-1  Methods............................................................................................................................ ES-7  Results .............................................................................................................................. ES-8  Discussion ...................................................................................................................... ES-15  Conclusion ..................................................................................................................... ES-17 

    Full Technical Report ................................................................................................................... 1 

    Background ............................................................................................................................ 1  Purpose ............................................................................................................................. 1  Condition Description ...................................................................................................... 1  Disease Burden ................................................................................................................ 1  Technology Description ................................................................................................... 2  Policy Context .................................................................................................................. 4  Washington State Agency Utilization Data ................................................................. 5  Regulatory Status ............................................................................................................. 7  Practice Guidelines .......................................................................................................... 7  Other Related HTAs ........................................................................................................ 8  Selected Payer Coverage Determinations ........................................................................ 8  Research Questions and Analytic Framework ............................................................... 11  What is Excluded from This HTA ................................................................................. 13 

    Methods................................................................................................................................ 13  Data Sources and Searches ............................................................................................ 13  Study Selection .............................................................................................................. 13  Data Abstraction and Quality Assessment ..................................................................... 15  Data Synthesis and Analysis .......................................................................................... 15 

    Results .................................................................................................................................. 15  Literature Search ............................................................................................................ 15  Safety ............................................................................................................................. 16  Efficacy .......................................................................................................................... 18  Cost and Cost-Effectiveness .......................................................................................... 26 

    Discussion ............................................................................................................................ 29  Summary of the Evidence .............................................................................................. 29  Additional Context for Interpreting Findings ................................................................ 30  Limitations of the Evidence Base .................................................................................. 31  Limitations of this HTA ................................................................................................. 32  Ongoing Research and Future Research Needs ............................................................. 33 

    Conclusion ........................................................................................................................... 33  References .................................................................................................................................... 35 

  • WA – Health Technology Assessment  December 19, 2017 

     

    Genetic microarray and whole exome sequencing: Final evidence report  ii 

    List of Appendices Appendix A. Search Strategy ........................................................................................................ 43  Appendix B. Additional Methods ................................................................................................. 45  Appendix C. Evidence Tables ....................................................................................................... 46  Appendix D. Excluded Studies ..................................................................................................... 61  Appendix E. Individual Study Risk of Bias Assessments ............................................................ 89 

    List of Figures Figure ES-1 Analytic Framework for Chromosomal Microarray and Whole Exome Sequencing

    in Children with Developmental or Intellectual Disability, Autism, or Multiple Congenital Anomalies ........................................................................................ ES-5

    Figure 1. Analytic Framework for the Detection of Chromosomal Abnormalities Chromosomal Microarray and Whole Exome Sequencing in Children with Intellectual Disability, Autism, or Birth Defects ...........................................

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