This was a moment that inaugurated a new threshold of understanding in genomic sequencing. Fast-forward half a century and we can see how these early developments paved the way for modern biotechnology, diagnostics and, most recently, a new generation of vaccines.
How Gene Sequencing Became Central to Personalised Healthcare
Gene sequencing is the process of determining the order of the base pairs in a segment of DNA – the human genome contains approximately three billion of these base pairs, which carry all the information a cell needs.2 This foundational understanding of the sequence led to the creation of physical and genetic mapping of the human genomes as early as the mid-1990s,3 equipping scientists and researchers with a hypothetical manual for the human body. Coined ‘The Human Genome Project’, this research fuelled the discovery of many previously unknown disease genes which have been especially valuable for identifying rare genetic diseases that, in many cases, had previously taken years to diagnose.4
The increased availability and speed of gene sequencing since its conception has subsequently led to a deeper understanding of diseases. For some patients, this means quicker and more accurate diagnosis of genetic diseases, as well as advancements in medicine that allow for more personalised treatments specific to individual or certain genes.2 These are developments that could fundamentally transform the lives of many patients. What’s more, genomic sequencing has significantly enhanced our understanding of the molecular basis of certain bacteria, viruses, and other microorganisms that can cause disease, known as pathogens.5
Pathogen Mapping: The First Step In COVID-19 Vaccine Development
As a result of the ability to understand the very basis of some bacterial pathogens, we’ve seen the traditional approach to vaccine development complemented by a new generation of vaccines. Traditional vaccines contain inactive or weakened parts of a particular organism which, once introduced into the body, stimulate an immune response.6 More recently, developments in genomic sequencing have enabled scientists to use simple genetic instructions to tell the body to produce a specific antigen – the substance that triggers an immune response - priming our bodies to quickly respond if it’s ever exposed to the infectious disease the vaccine was produced to prevent.7
Known as mRNA vaccines, they work by introducing a messenger RNA sequence which is effectively programmed for a disease specific antigen, directing the immune system to fight the real thing.7 Developments in this area are expected to continue to transform healthcare, enabling us to contend with other diseases such as dengue or Lassa fever, create future flu shots, and perhaps even the first HIV vaccine.8
The ability to quickly sequence not only the original virus but any potential variants is a huge asset to scientists working relentlessly to stay one step ahead.
A New Frontier In DNA-Based Medicine
Rapid diagnosis of rare conditions, personalised medicine, and mRNA vaccines are only a small sample of the new era in medicine made possible through our understanding of genomic sequencing. Advancements in biotechnology and DNA-based research are enabling us to gain knowledge at the molecular level of conditions, so that in the near-future we could benefit from medicine more effective and precise than available today.9
Over the past 50 years we’ve seen how the sequencing of the human genome precipitated a leap forward in modern healthcare. For future generations, the potential of genomic sequencing could continue to unlock a wealth of medical resources, improving and saving lives around the world.
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Brittain, Helen K et al. (2017). ‘The rise of the genome and personalised medicine’. Clinical medicine (London, England) vol. 17,6: 545-551. Last accessed March 2023.
International Human Genome Sequencing Consortium (2001). Initial sequencing and analysis of the human genome. Nature 409, 860–921. Last accessed March 2023.
Fridovich-Keil, Judith (2020). Human Genome Project. Encyclopaedia Britannica. Last accessed March 2023.
Armstrong, Gregory L et al. (2019). ‘Pathogen Genomics in Public Health’. The New England journal of medicine vol. 381,26: 2569-2580. Last accessed March 2023.
World Health Organisation (2020). How do vaccines work?. Last accessed March 2023.
PHG Foundation. ‘RNA vaccines: an introduction’. Last accessed March 2023.
Buranyi, Stephen (2021). ‘The mRNA vaccine revolution is just beginning’. WIRED. Last accessed March 2023.
EFPIA. What is Precision Medicine?. Last accessed March 2023.