Original Title: Secuenciación masiva en el diagnóstico de las leucemias agudas

Authors' objectives: The main aim of this study was to assess the evidence available concerning the usefulness of NGS for the diagnosis of acute leukaemia, and specifically, its validity, clinical utility, and efficiency as well as factors related to its implementation.

Authors' results and conclusions: Out of 1,453 potentially relevant references on the validity and utility of NGS, 36 were finally included. These studies assessed the use of NGS of DNA, RNA or both. The studies employed a range of commercially available and customised panels spanning different genes or different types of alteration. Some studies included patients with any type of acute leukaemia, while others focused only on AML or ALL. Although there was great heterogeneity, NGS tended to provide good results, with differences depending on the gene or type of alteration studied. Regarding cost analyses, we did not find any relevant studies among the 182 publications identified. Concerning barriers/facilitators, and clinicians’ and/or patients’ values and preferences, none of the 923 publications identified focused on the use of NGS in the diagnosis of acute leukaemia, although we did find a narrative review on the challenges of introducing NGS in the diagnosis of myeloid cancer. An additional manual search retrieved four studies on the barriers to the implementation of molecular diagnosis in general, as well as the opinions and values of cancer patients and the health professionals involved in the use of NGS. Discussion and conclusions Few studies have assessed the clinical utility of NGS in acute leukaemia. Furthermore, there is great heterogeneity in the NGS strategies and panels used, and this makes it difficult to assess the evidence on analytical and clinical validity. Even so, we consider that the establishment of agreed criteria for quality assessment and the interpretation of results, as well as the performance of inter-laboratory concordance and validation studies, may help to increase the validity and clinical utility of NGS in the diagnosis of acute leukaemia. Before implementing NGS, there is a need to define the genes to be sequenced and type of alterations to be detected and decide whether there are alterations for which conventional methods should continue to be used. Despite the heterogeneity identified, NGS may help obtain relevant data in patients in whom conventional karyotyping cannot be performed and provide data to improve risk stratification and treatment decision-making. Nonetheless, health professionals and patients should be conscious of the implications that NGS results could have, to avoid creating false expectations, and the possibility of finding results unrelated to leukaemia that patients might prefer not to know about.

Authors' methods: The Medline (via PubMed), Embase, and the Cochrane Library databases were searched to identify studies published between 2015 and October 2021 on the validity and usefulness of NGS. In addition, searches were performed for studies focusing on barriers and facilitators, health professionals’ and/or patients’ values and preferences, and finally, economic analyses. The evidence was evaluated using the framework proposed by Pitini et al. The selection, reading and assessment of the evidence were carried out independently by two researchers.

Project Status: Completed

Year Published: 2023

URL for published report: https://www.euskadi.eus/contenidos/informacion/osteba_publicacion/eu_def/adjuntos/25_2019_OSTEBA_Secuenciacion_Masiva.pdf

English language abstract: An English language summary is available

Publication Type: Mini HTA

Country: Spain

Organisation Name: Basque Office for Health Technology Assessment

Contact Address: C/ Donostia – San Sebastián, 1 (Edificio Lakua II, 4ª planta) 01010 Vitoria - Gasteiz

Contact Name: Lorea Galnares-Cordero

Contact Email: lgalnares@bioef.eus

Copyright: <p>Osteba (Basque Office for Health Technology Assessment) Health Department of the Basque Government</p>