4 Technology Quarterly |Personalised medicine The EconomistMarch 14th 2020
21than one person in 2,000 in the general population. But with over
6,000 such rare diseases now recognised, this means they are
common in the aggregate. In Britain one in 17 people can expect to
suffer from a rare disease at some point.
Studies of genetic diseases are not just a worthwhile end in
themselves. Understanding what goes wrong when a specific pro-
tein is out of whack can reveal basic information about the body’s
workings that may be helpful for treating other ailments. And the
growing understanding of how large sets of genes may contribute
to disease is making it possible to pick out the patients most at risk
from common diseases like diabetes, heart conditions and cancer.
That will help doctors personalise their interventions. In theory,
the rise in access to personal genetic information allows individ-
uals to better calculate these risks and to take pre-emptive action.
In practice, so far, few people seem to do so.
Genomics is not the only source of new personal-health data.
Just as all genomes are unique, so are the lives that all those ge-
nome-carriers lead. The increase in other forms of data about indi-
viduals, whether in other molecular information from medical
tests, electronic health records, or digital data recorded by cheap,
ubiquitous sensors, makes what goes on in those lives ever easier
to capture. The rise of artificial intelligence and cloud computing
is making it possible to analyse this torrent of data.
Almost 4bn people carry smartphones that can monitor physi-
cal activity. It is estimated that by 2022, 1bn people may be wearing
a device such as a smart watch that can monitor their heart rate.
The data-driven giants and startups of Silicon Valley are eager to
help. Consumers no longer need to go to a doctor for a genome
scan or to engage with a wide range of opinion about what ails
them, or will ail them. The pharmaceutical companies used to
dominating medicine are working hard to keep up. So are doctors,
hospitals and health systems.Move freely, but don’t break things
These possibilities are not without their risks, drawbacks and po-
tential for disappointment. The ability to pinpoint what has gone
wrong in a genome does not make it easy to fix. Moreover, as tech-
nology helps people monitor themselves in more ways, the num-
ber of the “worried well” will swell and unnecessary care will grow.
Many could be done real harm by an algorithmic mirage.
Beyond this, the “move fast and break things” attitude common
in tech companies sits uneasily with “first, do no harm”. And the
untrammelled, unsupervised and unaccountable means of data
accrual seen in other industries which have undergone digital
transformations sits uneasily with concerns over medical privacy.
The very nature of medicine, though, means that the future will
not just be a matter of business goals, research cultures, techno-logical prowess, wise practice and well-crafted regulations. It will
also be subject to the driving interests of particular individuals in
ways never seen before. The development of gene-based medical
research in Britain was deeply affected by the short, difficult life of
Ivan Cameron, whose father, David Cameron, did much to build up
genomics when he was prime minister. Many of those working in
this field are impelled by personal loss.
And then there are those whose interests stem from the way in
which their own genes shape their lives. People like Dr Nizar, who
is now crafting a new research agenda for Jansen’s disease. There
may only be 30 people in the world who suffer from it. But two of
them are her children, and they are in ceaseless pain. Science
knows why; medicine cannot yet help. “We believe in miracles,”
she says. She is also working to make one happen. 7Consequential
Global number of genomes sequenced, forecast, mSource:TheGlobalAllianceforGenomicsandHealth1001201400204060802017 18 25242322212019CombinedCancerRare diseaseT
he atomicbomb convinced politicians that physics, though
not readily comprehensible, was important, and that phys-
icists should be given free rein. In the post-war years, particle ac-
celerators grew from the size of squash courts to the size of cities,
particle detectors from the scale of the table top to that of the fam-
ily home. Many scientists in other disciplines looked askance at
the money devoted to this “big science” and the vast, impersonal
collaborations that it brought into being. Some looked on in envy.
Some made plans.
The idea that sequencing the whole human genome might pro-
vide biology with some big science of its own first began to take
root in the 1980s. In 1990 the Human Genome Project was officially
launched, quickly growing into a global endeavour. Like other
fields of big science it developed what one of the programme’s
leaders, the late John Sulston, called a “tradition of hyperbole”. The
genome was Everest; it was the Apollo programme; it was the ulti-
mate answer to that Delphic injunction, “know thyself”. And it was
also, in prospect, a cornucopia of new knowledge, new under-
standing and new therapies.
By the time the completion of a (rather scrappy) draft sequence
was announced at the White House in 2000, even the politicians
were drinking the Kool-Aid. Tony Blair said it was the greatest
breakthrough since antibiotics. Bill Clinton said it would “revolu-
tionise the diagnosis, prevention and treatment of most, if not all,
human diseases. In coming years, doctors increasingly will be able
to cure diseases like Alzheimer’s, Parkinson’s, diabetes and cancer
by attacking their genetic roots.”
Such hype was always going to be hard to live up to, and for a
long time the genome project failed comprehensively, prompting
a certain Schadenfreudeamong those who had wanted biology kept
small. The role of genetics in the assessment of people’s medical
futures continued to be largely limited to testing for specific de-
fects, such as the BRCA1and BRCA2mutations which, in the early
1990s, had been found to be responsible for some of the breast can-
cers that run in families.
To understand the lengthy gap between the promise and the re-
ality of genomics, it is important to get a sense of what a genome
really is. Although sequencing is related to an older technique of
genetic analysis called mapping, it produces something much
more appropriate to the White House kitchens than to the Map
Room: a recipe. The genes strung out along the genome’s chromo-Welcome to you
Twenty years on, genomics is really starting to matterThe human genome project