Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry Measuring and Modeling Utility and Efficiency in a Heterogeneous Population
Targeted Disorders
The Evaluation Study
PPT Slide
Objective #2 Evaluate laboratory reliability
Objective #2 (con’t): Evaluate laboratory validity
Objective #2 (con’t): Evaluate laboratory utility
Objective #3 Assure appropriate follow-up of cases with initial positive results
Objective #4 Assure appropriate follow-up of diagnosed cases
Objective #5: Determine test sensitivity and specificity
Objective #6: Evaluate the clinical validity of testing in different race/ethnic groups
Objective #6 (con’t): Evaluate the clinical utility of testing in different race/ethnic groups
Objective #7: Evaluate the cost-benefit and cost-utility of screening
Objective #7 (con’t): Evaluate the cost-benefit and cost-utility of screening
Objective #8: Determine training needs for NBS staff
Objective #9: Determine willingness of States to implement MS/MS
Objective #10: Share information about screening performance with other States
Email: alissa.johnson@ncsl.org
Home Page: /programs/health/genetics.htm
Other information: George Cunningham, M.D., M.P.H.
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