bursting the genomics bubble

14/5/2015 Bursting the genomics bubble : Nature News

http://www.nature.com/news/2010/100324/full/news.2010.145.html 1/3

Published online 31 March 2010 | Nature | doi:10.1038/news.2010.145

Column: Muse

Bursting the genomics bubble

The Human Genome Project attracted investment beyond what a

rational analysis would have predicted. There are pros and cons

to that, says Philip Ball.

Philip Ball

If a venture capitalist had invested in sequencing the human genome, what would she have to

show for it?

For scientists, the Human Genome Project (HGP) might lay the foundation of tomorrow's

medicine, with drugs tailored to your genetics. But a venture capitalist would want medical

innovations here and now, not decades hence. Nearly ten years after the project's formal

completion, there's not much sign of them.

A team of researchers in Switzerland now argue that the HGP was a 'social bubble', analogous

to the notorious economic bubbles in which investment far outstrips any rational cost-benefit

analysis of the likely returns. Monika Gisler and her colleagues at ETH in Zrich say in a

preprint1 on arXiv that "enthusiastic supporters of the HGP weaved a network of reinforcing

feedbacks that led to a widespread endorsement and extraordinary commitment by those

involved in the project".

Some scientists have already suggested that the HGP's benefits were hyped2. Even advocates

admit that medical benefits may be a long time coming, and will require advances in

understanding, not just the patience to sort through all the data.

Hope and hype

This contrasts with some of the claims made while the HGP was underway between 1990 and

2003. In 1999 the leader of the International Human Genome Sequencing Consortium

(IHGSC) Francis Collins claimed that the understanding gained by the sequencing effort

would "eventually allow clinicians to subclassify diseases and adapt therapies to the individual

patient"3.

That might happen one day, but we still don't understand how many diseases with a known

heritable risk are related to our genomes4.

Collins' portrait of a patient who, in 2010, is prescribed "a prophylactic drug regimen based on

the knowledge of [his or her] personal genetic data" is not on the horizon. And going from

knowledge of the gene to a viable therapy has proved immensely challenging even for a



Ingram Publishing /Alamy

The human genomeproject has yet to deliverpersonalized medicine.

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single-gene disease as thoroughly characterized as cystic fibrosis

(see 'One gene, twenty years').

Collins' claim, on the eve of the first draft of the human genome

in 2000, that "gene-based designer drugs will be introduced to

the market for diabetes mellitus, hypertension, mental illness

and many other conditions"5 no longer seems a foregone

conclusion, let alone a straightforward extension of a knowledge

of all 25,000 or so genes in the human genome.

Speculate to accumulate?

But this does not, say Gisler and her colleagues, mean that the

HGP was a waste of money. Some of the project's benefits are

already tangible, such as faster and cheaper sequencing; others

may follow eventually. The researchers are more interested in

how, if the HGP was such a long-term investment, it came to be

funded at all.

Their answer invokes the economics of bubbles. Gisler's colleague Didier Sornette has

previously suggested6 that these bubbles can drive other technical innovations, such as the

mid-nineteenth-century railway boom and the explosive growth of information technology at

the end of the twentieth century.

In economics, bubbles seem an expression of what John Maynard Keynes called animal

spirits, whereby the instability stems from "the characteristic of human nature that a large

proportion of our positive activities depend on spontaneous optimism rather than

mathematical expectations"7 . Such bubbles can end in disastrous speculation and financial

ruin, but in technology they can be useful, creating long-lasting innovations and

infrastructures that the cold glare of reason would have been deemed too risky.

For this reason, Gisler and colleagues say, it is worth understanding what causes such

bubbles, for this might show governments how to catalyse long-term thinking that is

increasingly absent from their own investment strategies and those of the private sector.

Permanent revolution

In the case of the HGP, the researchers argue, the competition between the public IHGSC

project and the private effort by the biotech firm Celera Genomics worked to the advantage

of both, creating anticipation and hope that expanded the social bubble and making the

research cheaper by engaging market mechanisms.

To that extent, the 'exuberant innovation' that social bubbles can engender

seems a good thing. But it's possible that the HGP will never deliver

economically or medically on such massive investment. Worse, the hype might have

incubated a rash of genetic determinism.



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Nature ISSN 0028-0836 EISSN 1 47 6-4687

As Gisler and colleagues point out, other 'omics' programmes are underway, including an

expensive NIH initiative to develop and use high-throughput techniques to solve protein

structures. Before animal spirits transform this into the next 'revolution in medicine', it might

be wise to ask whether the HGP has something to tell us about the wisdom of collecting huge

quantities of stamps before we know anything about them.

References

1. Gisler, M., Sornette, D. & Woodard, R. Preprint http://www.arxiv.org/abs/1003.2882.

2. Roberts, L. et al. Science 291, 1195-1200 (2001). | Article | PubMed | ChemPort |

3. Collins, F. S. New Engl. J. Med. 28, 28-37 (1999). | Article

4. Dermitzakis, E. T. & Clark, A. G. Science 326, 239-240

(2009). | Article | PubMed | ChemPort |

5. Collins, F. S. & McKusick, V. A. J. Am. Med. Soc. 285, 540-544 (2001).

6. Sornette, D. Socio-econ. Rev. 6, 27-38 (2008).

7. Keynes, J. M. The General Theory of Employment, Interest and Money (Macmillan, London,

1936).

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