Thank you to Dr. Tom Hickey The Southeast Newborn Screening and Genetics Collaborative (SERC) would like to thank Tom Hickey, PhD,… May 12th, 2009
Using Southeast Genetics’s telecommunications infrastructure and in partnership with Region 4’s laboratory performance project, the collaborative has successfully advanced the region’s harmonization effort on issues related to newborn screening (NBS), such as addressing inequalities in the number of conditions screened for and evaluating laboratory test performance. Now the region will move forward to integrate screening and diagnostic laboratories, thus integrating public health infrastructure and academic based diagnostic laboratories. A streamlined system for confirmatory testing is needed to close the gap between NBS and the diagnostics, which will result in minimizing the number of steps to a confirmatory diagnosis and will eventually contribute to reduced costs within the NBS system. The project will continue with efforts to decrease and sustain the lowest possible false-positive rate (FPR) and to increase positive predictive value (PPV), while optimizing detection and diagnosis rates and improving the standardization of confirmatory testing for all conditions detected. These efforts will then be expanded to explore second-tier testing and the development of tools and resources for quality assurance and quality control (QA/QC) with the aim of improving laboratory performance and decreasing inequities in Southeast Genetics.
Membership
David Ledbetter, PhD, Chair
Tom Hickey, PhD, Co-chair
Goals and Objectives
Goal 1: Continue to use regional and inter-regional approaches to improve NBS laboratory performance in Southeast Genetics by decreasing and sustaining the lowest false-positive rate (FPR) and raising the positive predictive value (PPV), while optimizing the detection rate for all conditions screened by TMS.
Objective 1: Integrate ongoing data collection into new regional information system to assess NBS laboratory test performance and compare screening and diagnostic laboratory results and methodologies for conditions screened by TMS in Southeast Genetics. This will continue in collaboration with Region 4 to compare performance with other regions. The data from our NBS and confirmed, diagnosed cases within Southeast Genetics will be integrated with the performance metrics and harmonization of laboratory cut-off values for NBS spearheaded by Dr. P. Rinaldo and facilitated by the NCC.
Objective 2: Explore and develop strategies for second-tier testing to lower false-positive rates and raise the positive predictive value of conditions screened for by TMS. This will improve laboratory performance and aid formulation of a best practice model.
Goal 2: Use a regional comprehensive approach to improve molecular and biochemical diagnostic laboratory performance to maximize detection of affected newborns by harmonizing confirmatory testing of conditions detected by tandem mass spectrometry (TMS) in Southeast Genetics through collaboration with Region 4, the National Coordinating Center for the Genetics and Newborn Screening Regional Collaborative Groups, the Centers for Disease Control and Prevention (CDC), and GeneTests.
Objective 1: Assess the current status of confirmatory biochemical and molecular genetic testing, identify needs and gaps in testing as they relate to confirming presumptive-positive NBS cases in the region, and develop best practice models.
Objective 2: Develop and implement a strategy to increase levels of awareness and knowledge among health professionals and consumers regarding improved diagnosis of the HRSA/ACMG-recommended uniform panel of conditions screened for by TMS in Southeast Genetics.
Goal 3: Assess and implement quality assurance/quality control (QA/QC) measures for confirmatory testing (biochemical and molecular laboratories) to provide optimal support for the diagnosis of children with heritable disorders in Southeast Genetics.
Objective 1: Evaluate the current proficiency in testing strategies among the biochemical and DNA genetic testing services for confirmatory diagnosis in the region and identify any gaps.
Objective 2: Enhance QA/QC measures in biochemical and molecular genetic testing in Southeast Genetics.
