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Global Translational Medicine Personalized, multi-omics disease detection

to a new era of personalized medicine. The vision will in breast cancer, and novel targets in medulloblastoma,
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be exemplified through the involvement of an imaginary ultimately enhancing precision medicine approaches in
participant in a randomized clinical trial, seamlessly cancer treatment. There are many proteomics groups
monitored with wearable technologies, and the analysis globally that have pioneered and driven the advent of mass
with longitudinal, personal multi-omics. spectrometry-based proteomics and the characterization
of post-translational modifications. 15-20 The inclusion
2. Omics and multi-omics of proteomics, post-translational modifications, and
Despite the impressive advancements, the modern metabolomics 21-23 are slowly bridging the gap between the
molecular medicine approach has been utilized to study genotype and the phenotype, providing invaluable insights
only a small fraction of human genes, leaving many into the dynamic molecular processes underlying health
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understudied proteins in the “dark proteome.” However, and diseases.
omics-like technologies constitute a paradigm shift by Recent translational initiatives have utilized
providing a more comprehensive molecular picture of quantitative proteomics to pinpoint candidate serum
biological systems. biomarkers for drug-induced liver injury in humans.
The first draft of the Human Genome Project in the early These efforts have successfully identified highly
2000s marked a transformative moment in genomics and discriminative biomarkers, boasting area under the curves
systems biology as a whole. Spearheaded by the Human ranging from 0.94 to 0.99, underscoring their capacity
to efficiently distinguish drug-induced liver injury from
Genome Organization, it provided a comprehensive 24
catalog of human genes and laid the foundation for healthy samples. Similar machine learning models have
large-scale omics investigations. Subsequent initiatives effectively identified noninvasive proteomics biomarker
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such as The Cancer Genome Atlas leveraged the same panels, surpassing the accuracy of current clinical assays
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genomic technologies to explore the underpinnings of in staging alcohol-related liver disease. There have also
cancer, demonstrating the feasibility of clinical omics been monumental efforts made, where more than 50,000
individual biosamples were analyzed with genomics and
research. The TCGA project has significantly advanced proteomics to unravel novel genetic variants influencing
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our understanding of cancer, and TCGA’s comprehensive plasma protein abundance, providing a rich resource for
cancer genomic maps have accelerated precision medicine drug discovery and for understanding proteogenomic
in cancer research and treatment. These successes mechanisms. 26-28 Other studies have used modified-
foreshadowed a multitude of other initiatives aimed aptamer proteomics, an alternative proteomic technology,
at unraveling the omics landscape of diverse diseases to identify diagnostic signatures of non-alcoholic fatty
and conditions. Initiatives such as the Genotype-Tissue liver disease in serum samples. The models developed
Expression (GTEx) project and the International Human could be used to test treatment response and identify novel
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Epigenome Consortium (IHEC) further expanded the targets for evaluation in the pathogenesis of non-alcoholic
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scope of omics research. GTEx, focusing on diverse tissue fatty liver disease. These examples are just the tip of the
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gene expressions, uncovered general principles of gene proverbial iceberg, and the literature of novel clinical
regulation and splicing across tissues. Complementarily, signatures based on omics techniques is vast, with new
IHEC provided epigenetic profiles across diverse cell types, applications continually accumulating.
elucidating how DNA methylation and histone marks
influence gene regulation. Current trends are pushing our 3. The maturation of omics techniques
methodologies towards single-cell analyses in all divisions The maturation of omics techniques over the past
of systems biology. 8
few decades has been nothing short of remarkable.
In parallel, the emergence of the Clinical Proteomic This evolution has been characterized by significant
Tumor Analysis Consortium (CPTAC), which was built advancements in several key aspects, including robustness,
upon the foundational work of TCGA, exemplifies the increased resolution, high throughput, the development of
cooperative spirit and strength of multi-omics and systems sophisticated statistical tools, and a substantial reduction
biology. CPTAC, heavily based on mass spectrometry-based in costs. These collective improvements have not only
proteomics, has added layers of molecular information on enhanced our ability to generate comprehensive molecular
top of genomic and transcriptomic profiles. This has led data but have also, to some extent, democratized access
to unique proteomic (and proteogenomic) signatures of to these powerful tools, opening doors to a wider range
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colorectal, breast and ovarian cancers, identified novel of research and applications. One of the foremost
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therapeutic targets in lung adenocarcinoma, and revealed achievements in the maturation of many omics techniques
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phosphoproteome-based mechanisms of drug resistance is the substantial increase in robustness. Early iterations of
Volume 3 Issue 1 (2024) 2 https://doi.org/10.36922/gtm.2357