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Sequencing Decision Matrix

As newborn screening programs consider adding complex molecular testing options, such as gene sequencing, many considerations and resource needs should be assessed to determine if, when and how to incorporate sequencing into their programs. Use our decision matrix tool to evaluate your options.

Questions?

Contact the Newborn Screening and Genetics team: [email protected]

What to Consider

Molecular Screening Implementation Considerations

Before implementing complex molecular testing options, such as gene sequencing, it is important to evaluate how a new workflow will impact your existing newborn screening program. Factors include personnel, follow-up, quality control and assurance, platform and workflow considerations, results analysis and other resource needs should be assessed to determine if, when and how to incorporate sequencing.

Newborn Screening Sequencing Decision Matrix Summary

Use this matrix if you are considering adding second- or third-tier sequencing to your program.

Access the Matrix Summary
Understand Your Options

Sequencing Decision Matrix Tool

About the Decision Matrix

The Newborn Screening Sequencing Decision Matrix outlines implementation considerations and to help evaluate plans of action for the incorporation of gene sequencing in a screening algorithm. It provides custom recommendations so you can understand how existing laboratory workflows and processes will need to be adjusted.

The decision matrix begins at the second- or third-tier level of testing. It uses skip logic to provide custom recommendations based on answer selections, and users can view all decision points.

There are four sections of questions:

  • Utility of sequencing
  • Capability considerations
  • Outsourcing
  • General sequencing considerations
Using the Decision Matrix Tool

Use the summary document of implementation considerations to assess initial readiness, and as a companion to the tool as you work through the questions.

After working through all the questions, view and save or print a PDF version of your answers for reference.

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Learn More

Additional Sequencing Resources

Tiered Testing

Watch recordings of webinars hosted by the Molecular Subcommittee:

More on Molecular Screening

Find more information ​on available molecular methods and quality improvement activities, as well as additional resources for implementation and training: