3210
Locationswheremodern
samplesweretaken
SiteswhereNeanderthal
genomeswereretrieved
Size,terabytes,logscale
1
10
100
1,000
10,000
2010 11 12 13 14 15 16 17 18 19
UKBiobankgenotypes
1,000Genomes
Phase 1
Numberofpeople
Areaofresearch
50,000
1,000
500,000
Population
genetics
Medicine
TheCancer
GenomeAtlas
Pyrosequencing
Detectslightemitted
asnucleotidesareadded
totheDNAstrand
Nanoporesequencing
DNAis passedthrough
a holeina protein
Single-molecule
real-timesequencing
0
1,000
2,000
3,000
4,000
5,000
Costofsequencing,
$ permillionbases
2001 04 06 08 10 12 14 16 18 20
Fungi
Plants
Protists
Animals
2,500
2,000
1,500
1,000
500
0
Totalnumberof
speciessequenced*
→Genomescanbecorrelatedwith other data, for better medical knowledge
→Asthecosthascomedown,sequencing has spread beyond humans
Sources: INSDC; NHGRI; Broad Institute; S. Peyrégne et al., Science Advances, 2019; S. Mallick et al., Nature, 2016
*Non-human eukaryotes since 2003 †Heat map interpolated from point data
Cost of sequencing and species sequenced
Prevalence of Neanderthal
DNA in modern humans†
% of genome
→ Sequencing can reach into the past, as well as the present
Selected large genomic datasets
2010-19
The EconomistJune 27th 2020 77
T
wenty yearsago, on June 26th 2000,
those running the public Human Ge-
nome Project and its private-sector shad-
ow, a firm called Celera Genomics, decided
to declare victory. In a simultaneous
breasting of the tape, each published a
“working draft” of the genome. The broker,
Bill Clinton, hosted the chief scientists at
the White House. Hyperbolic comparisons
were made to the Apollo project to land
people on the Moon.
Unlike Apollo, though, this announce-
ment marked a beginning rather than an
end. Genomics is now so embedded in bi-
ology that it is hard to recall what things
were like before it. Those first human se-
quences cost billions of dollars to obtain.
Today, with the advent of new technol-
ogies, a full sequence costs about $200,
and less detailed versions are cheaper still.
It is as if, to use Apollo as the analogy, regu-
lar shuttles to the Moon had become avail-
able at prices an average family in the West
could afford—and the more adventurous
might now be considering a trip to Mars.
Researchers with a hypothesis to test
can, for instance, turn to biobanks contain-
ing details of tens or hundreds of thou-
sands of people—their medical records,
education, employment and, crucially,
data about their genomes. Private compa-
nies will also sequence genomes to varying
standards, for a suitable price. It is proba-
bly the case, and if not, it soon will be, that
more than 1m human genomes have been
sequenced by one method or another.
Genomics also helps non-medical biol-
ogy. Many non-human species, including
crops and domestic animals, have had
their genomes sequenced. Though tinker-
ing directly with the genes of organisms
that end up on people’s plates still makes
some a bit queasy, that is increasingly un-
necessary. Genomic knowledge can now be
used to speed up selective breeding, with-
out the need for genetic engineering.
At the other end of the scientific spec-
trum, what can be done for Homo sapiens
can be done, using dnafrom fossils, for
other (now extinct) species of human be-
ing: the Neanderthals and Denisovans.
There is a possible practical interest even
here. Sequencing shows that these species
once interbred with Homo sapiens. It also
suggests that the traces of that interbreed-
ing which remain may help the recipient to
fight off infections, by combating viruses
and boosting the immune system. 7
The Human Genome Project has
transformed biology and medicine
Dawn of an era
Graphic detailGenomics