Happy 30th birthday, Human Genome Project

On October 1st, it will be the 30th anniversary of the start of the Human Genome Project. The Human Genome Project (HGP) was an international initiative involving 20 labs scattered throughout six countries (US, UK, Japan, France, Germany and China). At the same time, a private effort to sequence the first Human Genome was underway led by Craig Venter (Celera Genomics). This private programme had as its main aim to sell genetic information under a license to pharmaceutical companies and others.

The private effort speeded up the public initiative, which finished the first draft genome sequence at the same time as the private effort. The public initiative cost approximately US$ 2.7 billion. The $300 million Celera approach was able to proceed much more rapidly, and at a lower cost than the public project by relying upon data made available by the publicly funded project. Their shot gun technology for sequencing was revolutionary at the time. With J. Craig Venter’s business proposal to sequence the human genome to patent genes and/or all parts of it.

This provoked furore among the global community of scientists, spearheaded by the late British Nobel Prize Winner John Sulston, who successfully argued that all genomic data from the Human Genome Project should be openly accessible to the scientific community without commercial involvement. According to his obituary in the Guardian:

“The [human genome] sequence, freely available as Sulston urged, has provided a reference for all subsequent research into the way human biology is controlled at the molecular level: it has enabled scientists to pinpoint genetic mutations that cause disease and to design more targeted therapies for cancer.”

The private/public genome race culminated with the release of both first human genome drafts at the same time in 2001, in a famous appearance at the White House of the then President of the United States, Bill Clinton, flanked by both J. Craig Venter and the public initiative leader Francis Collins. They were also joined by UK Prime Minister Tony Blair. The cost of sequencing those first human genomes, all using variations of Sanger sequencing, would have been prohibitive for any effort that was not a large-scale international consortium. 

By releasing the first human genome sequence as the consensus reference of the genomes of a series of individuals who donated their DNA from diverse backgrounds, we have a template upon which to map features with very precise coordinates. Therefore, the human genome reference can be used as a tool to help us map variants involved in human disease.

The advent of the Human Genome Project has spearheaded the ability to map physiological functions to the physical locations of traits on the DNA sequence, allowing us to have a much deeper resolution of human function and disease. There is a long way before the management and usage of genetic/genomic information is optimised for their widespread usage in the clinic, yet there are some significant early applications that permit the measurement of risk for chronic diseases as well as the detection of variants that may explain causal relationships between molecular changes in the patient’s DNA. Although the fruits of such a wondrous project have taken longer to appear than what many would have liked, its application in the field of medicine and beyond is now widespread and tangible.