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Related Experiment Video

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Optimization criteria for ordering myeloid neoplasm next-generation sequencing.

Savanah D Gisriel1,2, John G Howe2, Christopher A Tormey2

  • 1Department of Pathology Yale School of Medicine New Haven Connecticut USA.

Ejhaem
|December 18, 2024
PubMed
Summary
This summary is machine-generated.

Implementing criteria for myeloid neoplasm (MN) next-generation sequencing (NGS) can safely cancel about one-third of tests. This strategy maximizes actionable results and reduces unnecessary costs in MN diagnosis and treatment.

Keywords:
MDSmyeloid neoplasmsnext‐generation sequencing

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Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Myeloid neoplasms (MNs) often require next-generation sequencing (NGS) for accurate diagnosis, risk stratification, and therapy selection, as conventional methods like karyotyping may miss crucial mutations.
  • However, performing NGS without clear clinical indication can lead to unnecessary investigations, increased patient distress, and higher healthcare costs.

Purpose of the Study:

  • To develop and validate criteria for approving next-generation sequencing (NGS) testing in myeloid neoplasms (MNs) to maximize actionable results.
  • To identify criteria for canceling MN-NGS tests that are unlikely to yield clinically significant findings.

Main Methods:

  • Established specific criteria for approving and canceling MN-NGS tests, focusing on clinical suspicion of new, relapsed, or worsening disease, and end-of-induction chemotherapy.
  • Retrospectively reviewed 174 MN-NGS test orders placed between August and December 2018, categorizing them into appropriate, inappropriate, and appropriately canceled groups based on the developed criteria.

Main Results:

  • Of 174 MN-NGS orders, 115 were appropriate (Group A), 29 inappropriate (Group B), and 30 appropriately canceled (Group C).
  • Actionable results were obtained in 65% of Group A tests, while 0% of Group B tests yielded actionable results (p < 0.0001).

Conclusions:

  • Approximately one-third (59/174) of MN-NGS test orders could be safely canceled using the established criteria.
  • Implementing these criteria could lead to significant annual cost savings, estimated at $150,370 in Centers for Medicare and Medicaid Services reimbursements.