Christopher N. Greene, PhD Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences NCEH, CDC Tuesday, 28th June 2011 Molecular Assessment Program - MAP 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 Evaluation Phase of Testing Components

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 (ACMG)  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:  Establish mechanism to communicate and transfer molecular testing laboratory best practices Pre-AnalyticAnalyticPost-Analytic Test methods and mutation selection Test method specificationsReporting of specific nucleic acid targets Nucleic acid extraction and sample handling Test accuracy and reliabilityRecommended molecular nomenclature “Clean” and “post- amplification” areas QA/QC concerns specific for molecular tests Determine need for genetic consultation

MAP Model

Benefits of MAP  State NBS Programs  Continual Quality Improvement process  Address specific concerns  Support from stakeholders  CDC NSMBB  Support for state programs to enhance NBS  Identify the molecular QA/QC needs for NBS  Guide future training and 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 APHL and NSMBB