The Open Human Genome, twenty years on

Biology’s first mega project

Back in 1953, it was discovered that DNA was the genetic material of life. Every cell of every organism contains a copy of its genome, a long sequence of DNA letters, containing a complete set of instructions for that organism. The first genome of a free-living organism — a bacteria — was only determined in 1995 and contained just over half a million letters. At the time sequencing machines determined 500 letter fragments, 100 at a time, with each run taking hours. Since the human genome contains about three billion letters, sequencing it was an altogether different proposition, going on to cost of the order of three billion dollars.

A collective international endeavour, and a fight for openness

It was sequenced through a huge collective effort by thousands of scientists across the world in many stages, over many years. The announcement on 26th June 2000 was only of a draft — but still sufficiently complete to be analysed as a whole. Academic articles describing it wouldn’t be published for another year, but the raw data was completely open, freely available to all.

Openness for data, openness for publications

Scientists publish. Other scientists try to build on their work. However, as science has become increasingly data rich, access to the data has become as important as publication. In biology, long before genomes, there were efforts by scientists, funders and publishers to link publication with data deposition in public databases hosted by organisations such as and . However, publication can take years and if a funder has made a large grant for data generation, should the research community have to wait until then?

Big data comes to biology, forcing it to grow up fast

Few expected the human genome to be sequenced so quickly. Even fewer expected the price to sequence one to have dropped to less than $1000 today, or to only take 24 hours on a single machine. “Next Generation” sequencing technology has led to million-fold reductions in price and similar gains in output per machine in less than 20 years. This is the most rapid improvement in any technology, far exceeding the improvements in computing in the same period. The genomes of tens of thousands of different organisms have been sequenced as a result.Furthermore, the change in output and price has made sequencing a workhorse technology throughout biological and biomedical research — every cell of an organism has an identical copy of its genome, but each cell (37 trillion in each human) is potentially doing something different, which can also be captured by sequencing. Public databases have therefore been filling up with sequence data, doubling in size as much as every six months, as scientists probe how organisms function. Sequence is not the only biological data type being collected on a large scale, but it has been the driver to making biology a big data science.

Genomics and medicine, openness and privacy

Every individual’s genome is slightly different and some of those difference may cause disease. Clinical geneticists have been testing Individual genes of patients to find for cause of rare diseases for more than twenty years, but sequencing the whole genome to simplify the hunt is now affordable and practical. Right now our understanding of the genome is only sufficient to inform clinical care for a small number of conditions, but it’s already enough for the UK NHS to roll out whole genome sequencing as part of the new Genome Medicine Service, after testing this in the 100,000 genomes project . It is the first national healthcare system in the world to do this.

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Tim Hubbard

Tim Hubbard

@ KCL, Genomics England & HDRUK. Working towards Genomic Medicine & secure access to health data for research; Advocate of openness, innovation & access for all