Opinion The human phenome project

Among his achievements: he was the first to make rigorous weather maps,and he discovered the anticyclone. He developed methods to describe and classify fingerprints,and showed they were a reliable way of telling one person from another. He made major contributions to statistics,discovering the concept of correlation and calculating the first correlation coefficients. (We talk of correlations when disparate phenomena occur together,either because one causes the other — as in smoking and lung cancer — or because both are the result of some other factor. For example,people with red hair tend to have pale skin; both are due to a particular gene involved in pigmentation. Correlation coefficients are a measure of the strength of the

association.)

Famously,he made a beauty map of the British Isles — whenever he passed a woman on the street,he graded her beauty and secretly pricked a piece of paper to record it. (According to Galton,the most beautiful women could be found in London,and the ugliest in Aberdeen.) He published a comment in Nature arguing you can estimate the level of boredom in an audience based on how often people fidget. And he investigated the power of prayer by looking at the lifespan of monarchs (who are prayed for by their subjects) and clergy (who presumably spend a lot of time praying). He concluded it wasn’t effective,but admitted it could be consoling.

But above all,he was interested in heredity — or what we now call genetics. He conducted a study of the inheritance of intelligence,for which he analysed the pedigrees of eminent Englishmen. He was interested in the biology of racial differences. He was the first to describe humans as being the products of the twin forces of “nature and nurture.” And he coined the term “eugenics,” and argued that humans could be improved through selective breeding. The ghastly legacy of these ideas continues to reverberate today.

It is easy to imagine that,if Galton were magicked into the present,he would have been fascinated by the human genome project,and anxious to get himself sequenced. And yet,in some ways,his anthropomorphic laboratory,crude though it was,makes as good a symbol for 21st century biology as a gene sequencer does.

Genes are the easy part. Soon,we’ll be able to get our genomes fully sequenced: we’ll be able to look at our genotypes. We may not know what all genes do — it’ll still be some time before we’ve mastered that. But we’ll know what they are.

The far harder task is to understand how genes interact with the environment to make an actual organism with particular characteristics — the phenotype. The phenotype is what Galton was measuring in his laboratory. And while the human genome project was a challenge for the last century,the human phenome project will be the challenge for this one.

The problem is ,where genes are tidy bits of DNA,the environment is huge,amorphous and hard to quantify. It includes what your mother ate for breakfast when she was pregnant,the colds you’ve had,and how much you were hugged when you were a baby. Vaccinations,exposure to dirt,whether you sleep in a dark room — are all part of your environment. Complicating matters further,in different environments,different sets of genes get switched on and off. Recent experiments looking at fat,sedentary laboratory rats showed they use a completely different portion of their genome from their thinner,more active counterparts.

Measuring this sounds impossible. Yet,at least two phenomics initiatives are already underway. One is the UK’s Biobank project,the other is the Personal Genome Project. The aim is to collect information — genetic,phenotypic and environmental — from large numbers of people,to understand how genes and environment interact to produce each of us.

Yet for the vastness of their ambition,these new projects have a narrow focus. Their primary,and worthy,aim is to gain a deeper understanding of how our environments interact with genes to causes diseases. But,as Galton well knew,there is more to the human phenotype than that.