Unlocking the potential of AI-assisted pathology for molecular alteration screening

In the past few decades, notable advancements in molecular techniques have been witnessed, spanning from capillary-based sequencing technologies to the advent of next-generation sequencing (NGS), a modern method that enables massive parallel sequencing [ 1 Goodwin S. McPherson J.D. McCombie W.R. Coming of age: ten years of next-generation sequencing technologies. Nat Rev Genet. 2016; 17: 333-351 Crossref PubMed Scopus (2514) Google Scholar , 2 Caspar S.M. Dubacher N. Kopps A.M. Meienberg J. Henggeler C. Matyas G. Clinical sequencing: from raw data to diagnosis with lifetime value. Clin Genet. 2018; 93: 508-519 Crossref PubMed Scopus (68) Google Scholar ]. While NGS has increased access to targeted therapies and likely improves patient outcomes in metastatic cancer cases [ [3] Aldea M. Friboulet L. Apcher S. Jaulin F. Mosele F. Sourisseau T. et al. Precision medicine in the era of multi-omics: can the data tsunami guide rational treatment decision?. ESMO Open. 2023; 8101642 Abstract Full Text Full Text PDF Scopus (3) Google Scholar ], its adoption remains limited. For instance, only 22 % of patients with advanced non-small cell lung cancer (NSCLC) in the US had access to NGS according to a recent editorial by Schilsky et al [ [4] Schilsky R.L. Longo D.L. Closing the gap in cancer genomic testing. N Engl J Med. 2022; 387: 2107-2110 Crossref PubMed Scopus (6) Google Scholar ]. Similarly, in Europe, less than 10 % of specimens requiring molecular testing are analysed with NGS [ [5] Normanno N. Apostolidis K. Wolf A. Al Dieri R. Deans Z. Fairley J. et al. Access and quality of biomarker testing for precision oncology in Europe. Eur J Cancer. 2022; 176: 70-77 Abstract Full Text Full Text PDF PubMed Scopus (17) Google Scholar ]. The significant disparity in access to NGS testing across the globe can be attributed to a variety of factors, including the increased costs, absence of infrastructure, the difficulty in obtaining sufficient tissue for testing, lack of time to order or review tests, and limited availability of expert personnel for test interpretation [ [4] Schilsky R.L. Longo D.L. Closing the gap in cancer genomic testing. N Engl J Med. 2022; 387: 2107-2110 Crossref PubMed Scopus (6) Google Scholar ].