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The future of personalized medicine: How can whole-genome data change our health management?
Whole Genome Sequencing (WGS) refers to the process of determining the entire or almost entire DNA sequence of an organism in a single time. This covers not only the chromosomal DNA of an organism, but also the DNA in mitochondria and, in the case of plants, the DNA in chloroplasts. Since 2014, whole-genome sequencing has been gradually introduced into clinical practice, and in the future whole-genome data may become an important tool to guide therapeutic intervention.
The ability of whole-genome sequencing to accurately identify disease susceptibility and drug response will have a profound impact on researchers, especially those focusing on evolutionary biology.
The history of whole-genome sequencing can be traced back to the 1970s and 1980s, when sequencing methods were mainly performed manually. For example, technologies such as Maxam–Gilbert sequencing and Sanger sequencing have enabled the sequencing of several microorganisms and viruses. With the development of automated sequencing technologies in the 1990s, sequencing of larger bacterial and eukaryotic genomes became more efficient. In 1995, Haemophilus influenzae became the first organism to have its entire genome sequenced, followed by a range of bacteria and some archaea.
The application of whole-genome sequencing is attracting increasing attention because almost any biological sample with a complete DNA copy can provide the required genetic material, including saliva, epithelial cells, bone marrow, and plant leaves. With the advancement of technology, it is even possible to select individual cells from a group of cells for sequencing through single-cell genome sequencing technology. These innovative methods not only enhance the research scope of environmental microbiology, but also provide new application prospects for genetic diagnosis.
The evolution of gene sequencing technology
The first successful whole-genome sequencing was achieved in 2000, in part through the use of unique paired-end sequencing technology, which has benefited from continued innovation and improvement. In 1996, the first eukaryote, yeast (Saccharomyces cerevisiae), was completely sequenced. As technology advances, more and more biological genomic data are decoded, which will undoubtedly become an important resource in future personalized medicine.
Thousands of genomes currently on the market have been fully or partially sequenced, which not only significantly reduces the cost of sequencing, but also speeds up the process of medical diagnosis.
Commercial potential of whole genome sequencing
With the advancement of technology, the commercialization of whole genome sequencing has become a reality. Many private companies such as Illumina and BGI are actively developing complete gene sequencing platforms that can be widely used in research and clinical applications. What followed was a gradual reduction in sequencing costs. The initial target was set at $1,000 USD, and now this number has even been reduced to $100 by some companies.
This change is also driving reform of the health care system. Research shows that through gene sequencing, clinicians can diagnose and intervene at the root cause of patients' diseases more quickly, thereby improving patient treatment effects. For example, from 2016 to 2018, the application of rapid whole-genome sequencing (rWGS) in acutely ill infants showed impressive efficiency and clinical utility.
Real experience of personalized medicine
According to some reports, through whole-genome sequencing, medical institutions can redesign treatment plans in 15% of patients, which can even save a lot of medical expenses in some clinical cases. For example, some studies indicate that genetic sequencing can reduce the number of days patients spend in hospital and improve long-term survival rates. As the audience's understanding of this technology deepens, how to effectively translate genomic data into practical medical applications has become a major challenge in current research.
The emergence of whole-genome sequencing has brought revolutionary changes to the prediction, diagnosis and treatment of diseases. It will take time to verify whether it can truly change personal health management.
Judging from the history of genome sequencing, this technology will undoubtedly play an important role in personalized medicine in the future. But in the context of unique health needs and circumstances, how to effectively integrate genome-wide data to capture individual differences in health management? Is this undoubtedly a question worth thinking about in depth?
