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WHOLE GENOME SEQUENCING
Whole genome sequencing is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time.
This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast. Whole genome sequencing has largely been used as a research tool, but was being introduced to clinics in 2014. In the future of personalized medicine, whole genome sequence data may be an important tool to guide therapeutic intervention. The tool of gene sequencing at SNP level is also used to pinpoint functional variants from association studies and improve the knowledge available to researchers interested in evolutionary biology, and hence may lay the foundation for predicting disease susceptibility and drug response. Whole genome sequencing should not be confused with DNA profiling, which only determines the likelihood that genetic material came from a particular individual or group, and does not contain additional information on genetic relationships, origin or susceptibility to specific diseases.

The UK's National Health Service (NHS) has embraced whole genome sequencing as part of its genomic medicine initiative. The Genomic Medicine Service (GMS), launched in 2021, aims to integrate genomic information into clinical practice, offering WGS as a diagnostic tool for conditions such as rare genetic diseases and certain cancers. This service is designed to facilitate early detection and treatment, improving patient outcomes and reducing the burden on healthcare systems.

Furthermore, WGS has played a crucial role in public health surveillance, particularly during the COVID-19 pandemic. The UK became a global leader in genomic surveillance of SARS-CoV-2, with the COVID-19 Genomics UK Consortium (COG-UK) spearheading efforts to monitor variants of the virus. This rapid genomic analysis has been instrumental in informing public health responses and understanding the evolution of the virus, helping to guide vaccination strategies and containment measures.

The United Kingdom is home to some of the world’s leading genomics research institutions, such as the Wellcome Sanger Institute and the UK Biobank. These organizations have harnessed WGS to uncover insights into genetic predispositions for various diseases, advancing our understanding of complex health conditions such as diabetes, heart disease, and mental health disorders.

Moreover, large-scale projects, such as the 100,000 Genomes Project, have collected and sequenced genomes from diverse populations across the UK, contributing to a vast database that drives genomic research forward. This wealth of genomic data is paving the way for new discoveries in disease mechanisms, treatment responses, and drug development.

WGS holds significant promise for personalized medicine, allowing healthcare providers to tailor treatments to individuals based on their genetic makeup. In the UK, initiatives such as the NHS Genomic Medicine Service are moving towards integrating genomic data into routine care, enabling clinicians to make informed decisions regarding treatment options and disease management. This approach not only improves patient care but also enhances the efficiency of healthcare delivery.