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A vital challenge to incorporating genomic data into clinical practice is the high cost associated with generating Next Generation Sequencing (NGS) data, specifically Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), as well as the expenses related to bioinformatics processing and data storage. While WGS and WES currently provide the most comprehensive genomic data, they are not yet cost-effective techniques for large-scale clinical screening at the national level. Additionally, NGS generates substantial quantities of extraneous data alongside relevant information, making analyses particularly complex and resource-intensive.
This initiative represents a significant advancement for several key reasons: (a) enabling early diagnosis and identification of mutation carriers long before the onset of clinical disease (population screening), (b) empowering individuals to comprehensively assess their risk of passing on genetic diseases (pre-marital screening), and (c) determining the risk of a fetus being born with specific genetic abnormalities (prenatal screening).
The proposed test builds upon insights from population-wide
WGS but is more cost-effective and clinically relevant than either WES or WGS.
This approach will lead to improved patient care and substantial reductions in
medical costs for both patients and the government.