NGS has a wide application. For example, it can be used to detect genetic variants associated with many inherited diseases such as congenital deafness, hereditary Parkinson’s disease, early-onset dementia, mitochondrial disease, retinitis pigmentosa, or natural jaundice. It can also be applied to detect variants that have targeted drug information or diseases that associate with multiple or a larger amount of exon variations such as familial breast cancer, familial colorectal cancer, tuberous sclerosis, Marfan syndrome, polycystic nephropathy, familial hypercholesterolemia, Wilson’s disease, Qiu Cindy’s muscular dystrophy etc. With the advance of NGS technology, these genetic test assays can be performed in a more economical and easier way by a single blood collection.
Sometimes, no genetic defect information (gene targets) can be linked to certain diseases. In these circumstances WES or WGS may be used to find the potential candidate genes (variants).
NGS can also be applied to provide contraindication warning before drug prescription for some diseases. For example, clinical evidence has been provided that before the prescription of the anti-epileptic drug, Carbamazepine, it is required to perform HLA assay in order to reduce the high risk of acquiring SJS (Stevens-Johnson Syndrome). Similar medication for uric acid-lowering drug, Allopurinol, may also perform HLA assay to prevent the high risk of SJS.
Finally, other common applications of NGS include quantitative metagenomics, detection of somatic mutations, biomarker tracking for cancer recurrency, NIPT assays, and liquid biopsy testing for cancer genes.