The first draft human genome at 20

A revolution powering today’s advances in genomics, biology and medicine

26 June 2020 marks 20 years since the Human Genome Project completed the first draft of the human genome and made it freely available to the world. This first genetic blueprint of a human being remains one of humanity’s most important scientific endeavours, laying the foundation for revolutions in genomics, biology and medicine. The Wellcome Trust Sanger Institute, which was the only British organisation involved in the project, carried out nearly one-third of the work, making it the biggest contributor.

Whole genome sequencing is now part of clinical care in the NHS, helping to inform diagnosis and treatment for rare diseases, cancer and most recently SARS-CoV-2. The Wellcome Sanger Institute continues to push the boundaries of genomics, with projects like the Human Cell Atlas, Cancer Dependency Map and Darwin Tree of Life Project. With technological innovation happening at breakneck speed, the next decade promises to be an important one for genomics, medicine and biology.

The story could have been very different. In early 2000, it was by no means assured that the secrets of our DNA would be open to all. While the Human Genome Project was working towards the first draft, a private company named Celera Genomics* was working to get there first – planning to patent genes and only release the data to paying customers.

“There was an incredible sense of collaboration and cooperation on the Human Genome Project that I think has carried through to the way science is done today. But at the same time we were in a race and it felt incredibly important to make the human genome publicly available to ensure that the whole world would benefit.”

Dr Cordelia Langford, Director of Scientific Operations at the Wellcome Sanger Institute and one of those who worked on the first draft human genome

During the time it took to create that first draft and for many years afterwards, questions were asked about the large investments of time, money and expertise in a Project with uncertain benefits. But steadily those benefits became clearer.

With the arrival of Next Generation Sequencing (NGS) in 2007, the time and money required to sequence a human genome began to fall dramatically. This allowed scientists to sequence and analyse hundreds and then thousands of genomes, and by comparing them to the reference genome begin to identify DNA patterns associated with genetic traits or disease.

It took almost 10 years to sequence the first draft human genome. Today, facilities like the Wellcome Sanger Institute can sequence the equivalent of one gold-standard genome every 3.5 minutes.

“It took many years and a huge amount of work to unlock the potential of that first human genome, so in one sense it has been a slow process. But the tools at our disposal today are incredibly powerful. In recent years we’ve seen a resolution revolution, where we can sequence DNA within individual cells. This means we can start to explore how our bodies work at cellular level in both health and disease.”

Dr Sarah Teichmann, of the Wellcome Sanger Institute and co-founder of the Human Cell Atlas

Similar advances have been made in cancer research. The Cancer Dependency Map uses CRISPR-Cas9 technology to edit the genes in cancer cells, turning them off one-by-one to measure how critical they are for the cancer to survive, providing vital data to accelerate the discovery of new cancer drugs.

Humans are not the only species to benefit from genomics. A major new initiative, the Earth Biogenome Project, is working to sequence the genomes of all complex species across the globe. This will help us preserve biodiversity, understand how species have evolved, improve food security and identify new biomaterials. The Darwin Tree of Life Project will do this for Britain and Ireland.

The recent SARS-CoV-2 pandemic has also highlighted the pivotal role genomics plays in responding to emerging threats. The genome of the virus was sequenced within weeks of it first appearing, which has allowed scientists to understand how it infects humans, track the spread of the virus and identify vaccine targets.

At the time the first draft human genome was published, the Director of the Sanger Centre, Professor Sir John Sulston, said that, “One should not underestimate how important this event is in human history. Over the decades and centuries to come this sequence will inform all of medicine, all of biology, and will lead us to a total understanding of not only human beings but all of life.”

Two decades later, Sir John Sulston’s words have proved to be correct. The Human Genome Project changed the face of biology and medicine forever.

More information

*More information on the race for the first human genome is available here: https://www.yourgenome.org/stories/why-was-there-a-race-to-sequence-the-human-genome