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Precision diagnostics is a branch of precision medicine that involves precisely managing a patient's healthcare model and diagnosing specific diseases based on customized omics data analytics.[1]
The U.S. announced federal funding for precision medicine research efforts in 2015 with the Precision Medicine Initiative. A year later, the Human Personal Omics Profiling study was established to develop integrative multi-omics approaches for use in precision diagnostics.[2]
Diseases are diagnosed early in individuals based on their variability in DNA, environment, and lifestyle. This is made possible by recent technological advancements in the acquisition of data from genomics, transcriptomics, epigenomics, proteomics, metabolomics, and microbiome studies. By accurately monitoring collateral molecular layers, a comprehensive understanding of an individual's personal molecular profile can be attained in an impartial manner.
Furthermore, contemporary computational algorithms improve the analysis of the omics data generated and digital technologies enhance data management. In addition, advancements in artificial intelligence, particularly convolutional neural networks and advanced data analysis, are utilized to predict the relationship between genotype and phenotype, potentially improving the sensitivity and specificity of precision diagnoses.
The advancement of Next Generation Sequencing (NGS) has improved cancer diagnostics. NGS provides a more comprehensive view of the genome than other single-gene assays. NGS-based molecular diagnostics offer genomic information about tumor-related variants and cancer-causing structural changes, enabling highly accurate diagnoses and the use of complementary targeted therapies. NGS samples can be collected using a buccal swab, peripheral blood or tissue-specific biopsy, and DNA is used to screen for single nucleotide variants, gene insertions/deletions, and copy number variants, while RNA is used to measure gene expression.
^Brown, Noah A.; Elenitoba-Johnson, Kojo S.J. (24 January 2020). "Enabling Precision Oncology Through Precision Diagnostics". Annual Review of Pathology: Mechanisms of Disease. 15 (1): 97–121. doi:10.1146/annurev-pathmechdis-012418-012735. PMID 31977297. S2CID 210891430.
^Wang, Qi; Peng, Wei-Xian; Wang, Lu; Ye, Li (March 2019). "Toward multiomics-based next-generation diagnostics for precision medicine". Personalized Medicine. 16 (2): 157–170. doi:10.2217/pme-2018-0085. PMID 30816060. S2CID 73488370.
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