Precision diagnostics

Article summary

Precision diagnostics is a branch of precision medicine that involves managing a patient's healthcare model and diagnosing specific diseases based on omics data analytics. 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. Individuals receive an early disease diagnosis based on their variability in DNA, environment, and lifestyle. Precision diagnostics utilize recent technological advancements in the acquisition of data from genomics, transcriptomics, epigenomics, proteomics, metabolomics, and microbiome. It helps gain a comprehensive understanding of an individual's personal molecular profile by monitoring collateral molecular layers. Furthermore, modern computing improves the analysis of the omics data generated. Precision diagnostics utilizes advancements in artificial intelligence, specifically convolutional neural networks and data analysis, to predict the relationship between genotype and phenotype, potentially enhancing 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.…

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