Next-Generation Sequencing Testing and Triaging of Bone Marrow Samples: Indications, Pre-authorization and Medical Necessity for Patient Care

Abstract

Abstract Introduction/Objective Bone marrow biopsy (BMBx) is an invasive procedure and samples are usually obtained for diagnosis, staging and prognosis of hematolymphoid disorders (HDs). Given the need for WHO and ICC classification of HDs; the Next Generation Sequencing (NGS) testing (in addition to other esoteric testing) has become relevant and medically necessary. It is important to triage BMBx in real-time based on clinical indications; however, pathologists are challenged by limited published guidelines as well as need for pre-authorization (PA) thus resulting in claim denials. Methods/Case Report Retrospective analysis was performed (2018 to 2022) on 1610 BMBx submitted for various clinical indications. These were categorized as follows: Cytopenias 220 (MDS); Cytosis 250 (MPN); Lymphomas work-up 350 (LY), acute leukemias 440 (AL) and plasma cell disorders 350 (PCD). In addition to esoteric testing; the decision was made to perform NGS testing based on preview of aspirate slides, clinical history and CBC. Results (if a Case Study enter NA) Providers initially ordered NGS in 10% of cases; however, NGS was added later by pathologists in 30% of BMBx samples. Abnormal NGS results were obtained as follows: MDS (70%); MPN (75%); LY (15%); AL (90%) and PCD (40%). NGS testing provided clinically useful data for MDS, MPN and AL groups. Even though LY and PCD groups also yielded positive results; the concurrent esoteric testing (Flow, FISH and Cytogenetics) was useful thus making indication of NGS in these two subset groups less indicated. Conclusion Appropriate triaging of BMBx for NGS testing is medically necessary for following reasons: 1) Enables precise diagnosis in a timely manner; 2) to avoid repeat BMBx if triaging guidelines are followed; and 3) decision to order NGS is made in real-time as BMBx are time sensitive samples thus eliminating the need for PA as this study emphasize that NGS has become standard of care in the work-up of HDs.