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:
agibbs@bcm.edu
https://doi.org/10.1038/
s41576-020-0275-3
it is simply
inconceivable
today that we
would not have
the genome at
our fingertips