De Micheli Valentina, Agnelli Luca, Conca Elena, Rabsiun Aramburu Victoria Lucia, Baggi Anna, Vingiani Andrea, Duca Matteo, Perrone Federica, Tamborini Elena, Piccolo Alberta, Lorenzini Daniele, Busico Adele, Capone Iolanda, Niger Monica, Proto Claudia, Vernieri Claudio, Manoukian Siranoush, Gancitano Giovanni, Ferrario Matteo, Franzini Jean Marie, De Braud Filippo, Pruneri Giancarlo, Jommi Claudio
Life Sciences Division, Business Integration Partners S.p.A, Milan, Italy.
Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
BMJ Open. 2025 May 16;15(5):e099134. doi: 10.1136/bmjopen-2025-099134.
There is limited evidence on the economic implications of assessing patients' access to personalised treatments through Comprehensive Genomic Profiling (CGP) and Molecular Tumour Board (MTB), prompting the need to analyse their impact on the cost of the cancer diagnostic journey (from hospital admission to MTB evaluation) and accessibility to personalised therapies.
Retrospective observational cohort.
Patients discussed from April 2020 to September 2021 by the institutional MTB operating at Fondazione IRCCS Istituto Nazionale Tumori of Milan, an Italian centre of excellence in oncology pertaining to the national health system.
676 patients focused on: non-small cell lung cancer (NSCLC), cholangiocarcinoma (CCA), pancreatic carcinoma (PC) and gastro-oesophageal carcinoma (GEC). We defined two different scenarios: (1) patients tested with small Next-Generation Sequencing (NGS) panels (≤60 biomarkers) vs (2) patients tested with comprehensive panels (>60 biomarkers).
We measured (1) patients' eligibility to personalised therapies based on genomic data obtained using targeted somatic NGS panels, (2) MTB cost and the overall diagnostic journey cost and (3) the cost to find a patient eligible to access personalised treatments.
Tumour profiling with comprehensive NGS panels improved patients' eligibility to personalised therapies compared with small panels (NSCLC: 39% comprehensive panel vs 37% small panel; CCA: 43% vs 17%; PC: 35% vs 3%; GEC: 40% vs 0%). The overall diagnostic journey cost per patient was between 3.2K and 7.4K (NSCLC: 7.4K comprehensive panel vs 6.4K small panel; CCA: 4.9K vs 3.7K; PC: 5.8K vs 4.5K; GEC: 4.2K vs 3.2K). MTB discussion accounted for only 2-3% of the diagnostic journey cost per patient (around 113€/patient). The cost to find patient eligible for personalised treatments varied significantly according to panel size and tumour setting (NSCLC: 5K comprehensive panel vs 2.8K small panel; CCA: 4.4K vs 4.4K; PC: 5.5K vs 27K; GEC: 5.2K vs not measurable since none of the patients analysed with small NGS panels were eligible).
MTB discussion of genomic data obtained with NGS comprehensive panels significantly increases patient eligibility to targeted therapies and optimise the cost to find a patient eligible to personalised treatments, mainly for CCA, PC and GEC patients.
关于通过综合基因组分析（CGP）和分子肿瘤学委员会（MTB）评估患者获得个性化治疗的经济影响的证据有限，因此有必要分析它们对癌症诊断过程（从入院到MTB评估）成本和个性化治疗可及性的影响。
回顾性观察队列研究。
2020年4月至2021年9月期间，由米兰 Fondazione IRCCS Istituto Nazionale Tumori 的机构MTB讨论的患者，该机构是意大利国家卫生系统中卓越的肿瘤学中心。
676名患者，重点关注：非小细胞肺癌（NSCLC）、胆管癌（CCA）、胰腺癌（PC）和胃食管癌（GEC）。我们定义了两种不同的情况：（1）使用小型下一代测序（NGS）面板（≤60个生物标志物）检测的患者与（2）使用综合面板（>60个生物标志物）检测的患者。
我们测量了（1）根据使用靶向体细胞NGS面板获得的基因组数据，患者接受个性化治疗的资格；（2）MTB成本和整个诊断过程的成本；（3）找到符合个性化治疗资格患者的成本。
与小型面板相比，使用综合NGS面板进行肿瘤分析可提高患者接受个性化治疗的资格（NSCLC：综合面板为39%，小型面板为37%；CCA：43%对17%；PC：35%对3%；GEC：40%对0%）。每位患者的整个诊断过程成本在3200欧元至7400欧元之间（NSCLC：综合面板为7400欧元，小型面板为6400欧元；CCA：4900欧元对3700欧元；PC：5800欧元对4500欧元；GEC：4200欧元对3200欧元）。MTB讨论仅占每位患者诊断过程成本的2 - 3%（约113欧元/患者）。找到符合个性化治疗资格患者的成本根据面板大小和肿瘤类型有显著差异（NSCLC：综合面板为5000欧元，小型面板为2800欧元；CCA：4400欧元对4400欧元；PC：5500欧元对27000欧元；GEC：5200欧元对无法测量，因为使用小型NGS面板分析的患者均无资格）。
对通过NGS综合面板获得的基因组数据进行MTB讨论，可显著提高患者接受靶向治疗的资格，并优化找到符合个性化治疗资格患者的成本，主要针对CCA、PC和GEC患者。
