Medicine gets personal

In 1977, Frederick Sanger developed a new method for DNA sequencing based on the incorporation of chain-terminating dideoxynucleotides and was awarded a Nobel Prize for this work three years later. For the past 25 years, Sanger sequencing has been the most commonly used method for DNA sequencing: in fact, it was the technology employed by the Human Genome Project in the race to produce the first map of the human genome in 2003. Since then, next-generation sequencing technologies have made it possible to generate more sequence data in less time and at lower cost than ever before, driving an explosion in the use of DNA sequencing in countless research queries across the globe.

In 2009, whole-genome sequencing of two people—!Gubi, a Kalahari Bushman, and Archbishop Desmond Tutu—was conducted by researchers at Pennsylvania State University and the University of New South Wales (published in Nature [1]) to identify variants in the genomes of individuals from southern Africa [2]. Whole-genome sequencing is now also being carried out in South Africa, with the hope that sequencing will be incorporated into routine research queries across the rest of the continent in the near future. Armed with genome sequence data, researchers are endeavoring to develop tailored therapy candidates (such as antiviral drugs against HIV) to match the needs of specific populations and even individuals, which is the highest hope of personalized medicine.

While whole-genome sequencing is currently not approved for clinical use by the US Food and Drug Administration (FDA), the utility and power of sequencing is demonstrated through approved clinical research studies. In the future, DNA sequencing is expected to transform health care as well as many other aspects of our lives.

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