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Woochang Lee

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Jul 2026

Laboratory medicine 2050: from testing to health intelligence network, a vision from the IFCC Emerging Technologies Division

Abstract Laboratory medicine is undergoing a profound transformation driven by advances in artificial intelligence (AI), automation, and data interoperability. By 2050, laboratories may evolve from analytical testing facilities into an interconnected health intelligence capable of translating biological, digital, and environmental data into more personalized, preventive, and sustainable healthcare solutions. Building on previous foresight analysis conducted by the IFCC Emerging Technologies Division (ETD), global healthcare outlook reports, and expert-informed horizon scanning, this paper explores ten megatrends that may shape laboratory medicine by mid-century. These include precision multi-omics, AI-supported diagnostics, distributed healthcare models, patient-owned data ecosystems, digital twins, convergence of imaging and laboratory medicine, population-wide prevention strategies, regenerative therapies, sustainability imperatives, and workforce transformation. Collectively, these developments represent a paradigm shift from data generation to data interpretation, positioning laboratories as trusted nodes within the health intelligence network connecting patients, clinicians, and healthcare systems. The integration of automation with advanced multi-omics technologies, including robotic liquid handling, autonomous LC-MS/MS platforms, spatial proteomics, and real-time metabolomics, will accelerate the transition toward precision and planetary health. Four exploratory scenarios illustrate plausible trajectories for laboratory medicine in 2050. The Hyper-Intelligent Laboratory explores the implications of self-learning systems and advanced analytics capable of supporting earlier disease prediction and intervention. The Sustainable and Regenerative Laboratory illustrates how environmental stewardship and diagnostic excellence may converge within circular healthcare ecosystems. The Patient-in-the-Loop Revolution examines a future in which citizens become active stewards of their health data and participants in healthcare decision-making. The Spacefaring Laboratory extends this reflection beyond Earth, illustrating how extreme environments may accelerate innovation in autonomous diagnostics, sustainability, and human health monitoring. By 2050, laboratory medicine could serve as a central intelligence layer within healthcare systems, transforming biological signals into actionable knowledge. Achieving this vision will require scientific innovation, regulatory adaptability, equitable access, ethical governance, sustainability, and a future-ready workforce.

Damien Gruson, Bernard Gouget, Woochang Lee et al. · 0 citations
Open access Aug 2026

Panel-based next-generation sequencing with copy number variant detection pipeline could increase the detection rate of hereditary colorectal cancer syndrome compared with Sanger sequencing

Hereditary colorectal cancer syndromes, such as Lynch syndrome and familial adenomatous polyposis, arise from pathogenic/likely pathogenic (P/LP) germline variants in DNA mismatch repair or tumor suppressor genes. Traditional Sanger sequencing could cover only phenotype-driven genes and cannot detect copy number variants (CNVs). Next-generation sequencing (NGS) enables simultaneous multi-gene analysis and CNV detection. In this study, we compared the results of phenotype-driven Sanger sequencing with those of panel-based NGS in patients suspected of having hereditary colorectal cancer syndromes at a single institution. Patients tested for hereditary colorectal cancer syndromes between 2008 and 2018 (Sanger) and 2019–2022 (NGS) were retrospectively analyzed. The NGS assay targeted 171 cancer predisposition genes, and CNVs were inferred by read-depth analysis and confirmed with multiplex ligation-dependent probe amplification. Detected variants were classified per ACMG/AMP 2015 guidelines. Microsatellite instability (MSI) and mismatch repair (MMR) immunohistochemistry (IHC) results were compared with molecular findings. Among 423 patients (254 Sanger, 169 NGS), the detection rate of pathogenic or likely pathogenic variants was higher in NGS (55.0%) than Sanger sequencing (40.6%). NGS additionally identified 17 CNVs (18.1%) that were undetectable by Sanger sequencing and revealed incidental P/LP variants in other cancer-related genes. MSI and MMR IHC results showed strong concordance with molecular findings. Panel-based NGS with CNV analysis was associated with a higher detection rate of clinically relevant variants than phenotype-driven Sanger sequencing in this single-institution cohort. These findings support the clinical utility of comprehensive germline testing for patients suspected of having hereditary colorectal cancer syndromes, particularly when CNV detection or simultaneous multi-gene analysis is required.

Joonsang Yu, Jaeyeon Ryu, Sollip Kim et al. · 0 citations