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

Molecular Testing Process Quality Assurance

Pre-Analytic

SOPsQA/QM Manual

Assay ValidationPersonnel

AnalyticPerformance of Test

MethodsProficiency Testing

Post-Analytic Results Reporting

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-Analytic Analytic Post-AnalyticTest methods and mutation selection

Test method specifications

Reporting of specific nucleic acid targets

Nucleic acid extraction and sample handling

Test accuracy and reliability

Recommended molecular nomenclature

“Clean” and “post- amplification” areas

QA/QC concerns specific for molecular tests

Determine need for genetic consultation

MAP Model

MolecularAssessment

Program

Pre-VisitEvaluation

On-site Evaluation

SOP Manuals

QA/ QM Manuals

Facilities/Space

Equipment

Procedures

LaboratoryPersonnel

Results Reporting

Exit DiscussionReport to

Participants

Inform CDCResponse toLaboratories

IdentifyLaboratory Needs

ImproveNewborn

Health

ImproveLaboratory Test

Quality andPerformance

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 NSMBBState NBS partnersAPHL

Site visits to state NBS laboratoriesWisconsin New York StateWashington 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