Next generation sequencing for clinical diagnostics: Five year 2025

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NGS assay has important applications in hereditary cancer diagnosis or risk population assessment. Since the variant allelic frequencies of hereditary cancers are usually around 50% or 100%, the detection of such genetic changes needs less depth of sequencing when compared to those in cancers.
However, the diagnostic yield of next-generation sequencing (NGS) in unexplained epilepsy is highly variable (10-50%). We sought to determine the diagnostic yield and clinical utility of NGS in children with unexplained epilepsy that is accompanied by neurodevelopmental delays and/or is medically intractable.
NGS can sequence hundreds and thousands of genes or whole genome in a short period of time. The sequence variants/mutations detected by NGS have been widely used for disease diagnosis, prognosis, therapeutic decision, and follow up of patients.
The Food and Drug Administration (FDA) has recently announced the marketing authorization of three tumor profiling next generation sequencing (NGS) tests, Thermo Fisher Scientifics Oncomine Dx Target Test,1 MSK-IMPACT2 and Foundation Medicines FoundationOne CDx3 which are important advancements in the real-world
NGS applications can be used in the diagnosis of infectious diseases. (A) Microbes grown from patient samples provide microbial DNA for WGS in which millions of fragments are read in parallel and assembled to reconstruct the microbial genome.
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A significant application of DNA sequencing lies in disease diagnosis and treatment. It serves as a valuable tool in diagnosing genetic diseases, identifying tumorigenic gene mutations, detecting microbial infections amongst others, all of which contribute to the advancement of personalized medicine.

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