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The New England Genetics Collaborative

Work Groups




Quality Assurance: Activities

The overall goal of the work group is to have a multicenter validation of algorithms to ultimately improve the communication of positive newborn screening results to the Medical Home

Accomplishments

The collaboration of the Newborn Screening laboratories of Massachusetts, Connecticut, New York and Wisconsin was established. This collaboration has provided the large number of cases needed to test the algorithms. Technical research and testing has been conducted in participating laboratories, providing initial validation for the procedure developed by the New England Newborn Screening Program.

Indices have been created for specific Newborn Screening markers as a result of this algorithm, and work has been done to adjust those indices for lab-specific variation.

Current work

The participating laboratories are working to complete analyses on the different biomarkers, and to develop the Final Tables of the indices. In the future, these indices may be used by laboratories outside of this work group to more readily identify high risk infants in their Newborn Screening programs, and to communicate the lab results to the provider.

In keeping with a national effort, the work group began looking at Emergency Preparedness of the Newborn Screening Laboratories in the region. Because these laboratories have guardianship of data and genetic materials, it has become a priority to ensure continued operation and security in the event of a natural disaster. Click here to read about the first Emergency Preparedness Symposium held on April 1, 2011, in Ashland, MA.