Newborn Screening Proficiency Testing for CFTR Mutations

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Newborn Screening Proficiency Testing for CFTR Mutations Powered By Docstoc
					Molecular Assessment Program -
                  Christopher N. Greene, PhD
    Newborn Screening and Molecular Biology Branch,
                 Division of Laboratory Sciences
                                    NCEH, CDC

                         Tuesday, 28th June 2011
       National Center for Environmental Health
       U.S. Centers for Disease Control and Prevention
NBS Molecular Assessment Program (MAP)

   Provide quality management guidance and support for
    molecular testing in NBS laboratories
     Partnership between MQIP, NBS laboratories and APHL
   Gaps in current CLIA guidelines for molecular testing
     CMS does not provide a genetic testing specialty – recommends use of
      general guidelines for high-complexity tests
     Standard regulatory framework does not allow for complexity involved
      in molecular testing
     Rapidly changing field would render CLIA specialty guidance obsolete
     Inflexible regulations may prevent use of new technologies
   Provide management component for NBS quality
    improvement program specific for molecular testing
         MAP: Molecular Assessment Program

                            Phase of Testing      Components

                                                     QA/QM Manual
                                                     Assay Validation

Molecular Testing Process                      Performance of Test Methods
   Quality Assurance                                Proficiency Testing

                               Post-Analytic        Results Reporting
NBS Molecular Assessment Program Overview

   Detailed assessment criteria is modeled from the
    following documents:
       NNSGRC Performance Evaluation Assessment Scheme (PEAS)
       CLIA regulations
       Molecular Pathology Checklist (CAP)
       Standards and Guidelines for Clinical Genetics Laboratories
       Clinical Laboratory Standards of Practice (NYSDOH)
       Good Laboratory Practices for Molecular Genetic Testing for
        Heritable Diseases and Conditions (MMWR)
                MAP Evaluation Categories
    Assessment categories for evaluation of entire molecular
     testing process:
    Pre-Analytic                  Analytic                        Post-Analytic
    Test methods and              Test method specifications      Reporting of specific
    mutation selection                                            nucleic acid targets
    Nucleic acid extraction and   Test accuracy and reliability   Recommended molecular
    sample handling                                               nomenclature
    “Clean” and “post-            QA/QC concerns specific for     Determine need for
    amplification” areas          molecular tests                 genetic consultation

    Establish mechanism to communicate and transfer molecular
     testing laboratory best practices
MAP Model
               Benefits of MAP
   State NBS Programs       CDC NSMBB

   Continual Quality        Support for state
    Improvement process       programs to enhance NBS
   Address specific         Identify the molecular
    concerns                  QA/QC needs for NBS
   Support from             Guide future training and
    stakeholders              educational opportunities
                              for NBS programs
           Current State of MAP
   MAP pilot program
     Assessment team

        CDC NSMBB

        State NBS partners

        APHL

     Site visits to state NBS laboratories

        Wisconsin

        New York State

        Washington State

     Presentation of MAP at APHL NBSGT 2011 meeting
             Future of MAP

NBS programs can request MAP visits to
 start in 2012

Information for program and program
 participation will be available through

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