Technological advances can help expand newborn screening (NBS) programs and improve screening and diagnostic testing. As NBS programs consider adding complex molecular testing options, such as gene sequencing, there are personnel, follow-up, quality control and assurance, platform and workflow considerations, as well as results analysis and other resource needs that should be assessed to determine how, if and when to incorporate sequencing into their programs.
Sequencing Decision Matrix Tool
The NBS sequencing decision matrix outlines implementation considerations and assists programs in evaluating plans of action for the incorporation of gene sequencing in their screening algorithm. The decision matrix begins at the second- or third-tier level of testing.
The matrix tool uses skip logic to provide custom recommendations based on answer selections and help labs better understand the changes they will need to make to their existing laboratory workflows and processes.
The decision matrix has four sections of questions on:
- Utility of sequencing
- Capability considerations
- General sequencing considerations
Users also have the option to view all decision points in the matrix tool. After working through all of the questions, users are able to view and print a PDF version of their answers.
A summary document of implementation considerations is also available as a companion to the matrix tool.
Additional Resources for Sequencing in NBS
2020 APHL Webinar on Biochemical Second-tier testing and Molecular Second- and Third-tier testing Options and Considerations
2020 APHL Webinar on Designing a Tiered Tesing Strategy
2017 Gene Sequencing Forum
2017 Gene Sequencing in Public Health NBS Meeting