December 12, 2024
Author(s): Gayle Turim Dickstein
Using more careful consideration when deciding whether or not to order next-generation sequencing (NGS) for a patient with an actual or suspected myeloid neoplasm (MN) could save institutions thousands of dollars annually without compromising care, according to a Yale School of Medicine team. They have created a set of criteria to determine the appropriateness of NGS testing for MN (MN-NGS), with the goal of maximizing actionable results. Writing in eJHaem, the team also noted that the results of NGS, when not clinically indicated but performed anyway, can foster fruitless investigative paths and amplify patient anxiety.1
Close-up illustration of a MN | image credit: sawaratch – stock.adobe.com
They noted that, indeed, MNs often harbor pathogenic mutations that go undetected by karyotyping and fluorescence in situ hybridization, and NGS is truly necessary for diagnosis, risk stratification, and therapy.2 Among the 6 situations that would, if present, warrant NGS (ie, approval criteria) would be clinical suspicion of new, relapsed, or worsening disease, and end-of-induction chemotherapy.
The 6 “cancellation criteria”—situations in which these investigators say NGS clearly should not be performed—include, first, having a suspicion of only nonmyeloid disease (ie, the diagnosis is a nonmyeloid disease, or there is no suspicion for acute myeloid leukemia [AML], myelodysplasia, myeloproliferative neoplasm [MPN], or another MN). Other situations are having no suspicion of progression of a known MN; no evidence for recurrence post-transplant; a diagnosis of chronic myeloid leukemia (CML) with no concern for AML; and cases using blood when a concurrent bone marrow NGS is being performed. The 6th and final criterion is that none of the above cancellation criteria have been met, but no approval criteria have been met either.
The actionable results that should emerge from NGS done for the proper reason include making a new MN diagnosis, characterizing a MN with baseline mutational status for follow-up purposes, and altering a patient’s treatment plan, noted the investigators.