DNA is finally sequenced

On April 14th, 2003, a hugely ambitious project announced a successful conclusion as the human genome was finally sequenced. It was the world’s largest collaborative biological project, involving thousands of people at 20 universities and research centres in the US, UK, Japan, France, Germany and China, and costing billions of dollars. It was formally launched in 1990 with funding from the US National Institute of Heath and various charities and other groups around the world.

Its goal was to determine the sequence of nucleotide base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome. It was necessarily a massive project because the human genome has approximately 3.3 billion base pairs. A similar, privately funded effort was launched by Craig Venter at Celera Genomics, and there were fears that he might try to patent the information if he succeeded. However, President Clinton announced that this would not be permitted, and in the event Venter made public his information.

The sequencing of DNA offers the prospect of understanding and treating the causes of diseases, but it raises the possibility of uses in a range of other fields, including forensic applied sciences, biofuels, agriculture, and animal husbandry, among others. It also raises ethical, legal and social concerns if information about the DNA of individuals becomes publicly available. One fear is that employers and insurers might refuse to deal with people if health concerns are indicted by their DNA.

The movie “Gattaca” was set in a future world where the top slots, including space travel, were reserved for only those with superior DNA. The US Health Insurance Portability and Accountability Act protects against the unauthorized release without consent of individually identifiable health information to any group not actively engaged in the provision of healthcare services to a patient.

I was one of the early customers of 23andMe eleven years ago, when I had parts of my genome mapped. This uses genotyping rather than sequencing, but can provide useful information about the proportion of certain genotypes that are associated with different conditions, including illnesses. Three weeks ago I finally had my own DNA fully sequenced, all 3.3bn base pairs. The Human Genome Project, completed on this day in 2003, after 13 years of work by thousands of people, cost $2,7 billion. I had mine done at a much more affordable price. It has taken a mere 16 years for a miracle to become commonplace.