Former US president Bill Clinton called it the “most important, most wondrous map ever produced by humankind”. To then UK prime minister Tony Blair, it was a “breakthrough that takes humankind across a frontier and into a new era”. His science minister David Sainsbury said: “We now have the possibility of achieving all we ever hoped for from medicine.” When Nature published a 62-page article on 15 February 2001 titled ‘Initial sequencing and analysis of the human genome’ it is not difficult to see why the world got excited. Perhaps, even, a little overexcited. One of our editors, Henry Gee, penned a newspaper piece at the time that promised, by 2099, “genomics will allow us to alter entire organisms out of all recognition, to suit our needs and tastes … [and] will allow us to fashion the human form into any conceivable shape. We will have extra limbs, if we want them — maybe even wings to fly.”
As Eric Lander, director of the Broad Institute of MIT and Harvard in Cambridge, Massachusetts, and the first author on that 2001 paper, writes on page 187 of this issue: “The human genome has had a certain tendency to incite passion and excess.” A decade on, Lander notes, the pattern continues, with “a front-page news story on the tenth anniversary of the announcement that chided genome scientists for not yet having cured most diseases”. The 2001 sequence was always a milestone on the journey to better medical care, rather than a destination. The ten-year anniversary of the publication in Nature and Science of sequences prepared respectively by the international Human Genome Project and Celera Genomics, now of Alameda, California, provides another — as well as an opportunity to reflect on progress.
Some things have undoubtedly changed. Nature‘s Editorial page in the 15 February 2001 issue examined not the scientific and medical promise of the genome sequence, but the challenge of public access to information gathered by the commercial genomics sector. Acrimony over the differing public and private approaches has since faded; concerns over access to genomic data now centre on privacy issues.
Has medical progress been slower than was expected at the time? In an article on page 204, Eric Green and Mark Guyer of the US National Human Genome Research Institute in Bethesda, Maryland, offer an “updated vision” of the prospects for genomic medicine. “Significant change rarely comes quickly,” they write. “Although genomics has already begun to improve diagnostics and treatments in a few circumstances, profound improvements in the effectiveness of healthcare cannot realistically be expected for many years.” Research is not enough, they say, and new policies and practices as part of an expanded global effort are needed too.
The sequencing of the human genome was in many ways a triumph for technology as much as it was for science. That technology has continued to develop over the past decade, which Elaine Mardis of the Genome Center at Washington University in St Louis describes in an article starting on page 198 as a “remarkable sequencing technology explosion”.
Massively parallel sequencing technology allows questions to be asked and answered with “unprecedented speed and resolution”, she says. “The continuing upward trajectory of sequencing technology development is enabling clinical applications that are aimed at improving medical diagnosis and treatment.” A useful example is the development of genome-wide association studies to probe the underlying genetic landscape of some common diseases.
More than a decade ago, Michael Dexter, then head of the UK Wellcome Trust, which took part in the Human Genome Project, branded the genome sequence as the outstanding achievement of human history, eclipsing the significance both of the Moon landings and of the invention of the wheel. It is too early for that history to be written. For the genome sequence to be a true success, we must yet ensure that greater achievements are built on it.