The Human Genome Project changed everything

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CommenT
NATURe ReviewS 
|
 GeneTics
The joint announcement of the release of the human 
‘draft’ genome sequences occurred 20 years ago, at a 
ceremony in the White House. The first analyses by 
two groups, the publicly funded International Human 
Genome Project (HGP) Consortium and Celera 
Genomics, were published in 
Nature
1
 and 
Science
2
, 
respectively, shortly after. While the analyses were super-
ficial by contemporary standards, this was nevertheless 
a milestone that provided exciting first glimpses into the 
entire human genome. The announcement was hailed 
as ‘the end of the beginning’ and a launch pad for a new 
era. After two decades, have the aspirational aims of the 
HGP been realized? Without doubt, the answer is yes; it 
is simply inconceivable today that we would not have the 
genome at our fingertips — as unimaginable, perhaps, as 
not having computers or the internet.
Critics cite a failure to meet the most outlandish visions 
as evidence that the HGP has not lived up to all promises. 
The project was initially conceived with fairly sober 
predictions, including the benefits of a complete cancer 
genome, advances in genetics and the development of
improved technologies
3
. It was not until closer to the pro-
gramme launch in 1990 and at milestones along the way 
that the rhetoric was loudly elevated to claims of revolu-
tionizing biology, biotechnology, drug development and 
even society. A favourite prediction was the personaliza-
tion of therapies and the liberation of drugs that otherwise 
were unusable, through identification of the few individu-
als with adverse responses. The mysteries of the architec-
ture of common complex diseases were to be revealed and 
even behavioural traits might be solved. The predictions 
included the possibility to breed ‘super babies’ based on 
this new knowledge and, at the same time, perhaps even 
predict criminality
4
. In hindsight, there was plenty of 
hype that was shared with the media and the wider com-
munity. Critics are correct that the apex of these claims 
was not reached. The hyperbole that we look back on 
did not, however, come from the front line. It came from 
those who championed the programme, mindful of its 
long-term benefits. Thanks to them, they generated the 
enthusiasm to fund this transformative work.
Among those immersed in the delivery of the pri-
mary aims of the project, the mood was more measured. 
‘Basic’ biologists wanted their favourite model organisms 
characterized so that human gene homologues could be 
identified. Clinical geneticists were fixated on discovery 
and genetic dissection of the molecular basis of inher-
ited childhood disorders, while adult disease specialists 
sought answers to why some suffered common maladies, 
such as cardiovascular disease or cancer. Technologists 
recognized that this was the gateway to the new era of 
high-throughput, digital biology.
There were still lofty goals, and major contributors 
who were convinced of the imperative of completing 
the project shared core beliefs of the broad impact of a 
completed human sequence. All recognized that, for the 
first time, these studies would share a characteristic com-
prehensiveness that was an uncommon luxury in biol-
ogy. For the first time, there would be knowledge on all 
genes, all diseases and all genetic variants. Participants 
recognized the power of broad data sharing and the leg-
acy of the Bermuda Principles for future biology
5
. The 
organizational rigor required to manage the HGP was 
The Human Genome Project changed 
everything
Richard A. Gibbs 
Thirty years on from the launch of the Human Genome Project, Richard Gibbs reflects on the 
promises that this voyage of discovery bore. Its success should be measured by how this project 
transformed the rules of research, the way of practising biological discovery and the ubiquitous 
digitization of biological science.
Human Genome Sequencing 
Center, Baylor College of 
Medicine, Houston, TX, USA.
e-mail: 
[e-mail]
https://doi.org/10.1038/ 
s41576-020-0275-3
it is simply 
inconceivable 
today that we 
would not have 
the genome at 
our fingertips