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All your basepairs are belong to me

Here is a Human Being by Misha Angrist

Richard P. Grant 14 July 2012

www.lablit.com/article/730

Traces of us: DNA underpins humanity

Far from being the dry reporting of an experiment – introduction, method, results, conclusion – this is a highly personal, and often emotionally charged, account

The history of science and medicine is replete with self-experimentalists; those shining stars who, whether frustrated with lack of suitable models, peeved at the obstreperousness of officialdom, or simply out of sheer bloody-minded curiosity, inject themselves with heparin or swallow bacterial cultures in search of an Answer.

Perhaps surprisingly, in the era of ethics committees and independent review boards, the practice is no less prevalent today. Here is a Human Being (Harper Perennial, 2011) is Misha Angrist’s account of how he came to be the fourth subject of the Personal Genome Project, a Harvard-sponsored initiative to “improve our understanding of genetic and environmental contributions to human traits”. (The title, by the way, is from Walter Gilbert: “Three billion bases of DNA sequence can be put on a single compact disc and one will be able to pull a CD out of one’s pocket and say, ‘Here is a human being; it’s me!’”) Far from being the dry reporting of an experiment – introduction, method, results, conclusion – this is a highly personal, and often emotionally charged, account.

But then again, perhaps we shouldn’t expect anything less. Quite apart from the questions of identity, ancestry, health, and race that all plague the author’s mind as he awaits the output from next-generation sequencing machines, the Personal Genome Project is more than a just a straightforward scientific study with Angrist (and his co-experimentees) as subjects. The Project’s Chairman and engine room personified, Harvard geneticist George Church, wants to study hundreds of thousands – if not millions – of individual genomes. Church believes that only by studying such huge numbers of people can we even begin to detect the subtle yet meaningful DNA variants that have an effect on familiar but frustratingly complex complex traits such as heart disease and diabetes.

So it is an experiment that we as a society are performing on ourselves, with, ultimately, the aim of changing healthcare for ever. Not only that, but by making individuals’ very personal genetic data available to everybody (everybody who has the means to analyse them, of course), this becomes a very socially aware experiment. The author tells us that Linda Avey, cofounder of genetic testing company 23andMe, has said that her company has a “social mission” – as Angrist puts it, 23andMe aims to become a “Facebook for the genome-savvy set”.

Personal genomics has the potential to destroy the barrier between the individual and society. When someone has their own genome sequenced and – more pointedly – the data analysed, disease risk is probably at the forefront of their mind. But the real impact of having genomes at our fingertips is going to be on society, on health insurance and care, and even government policy. Will personal genetic information be a useful clinical diagnostic, or might it become a marketing tool? Is getting your genomic sequenced a right, a duty, or a curse? Suppose you (or your children) just don’t want to know? In the Genome Generation, will privacy become a thing of the past?

These, and other questions about what it all means, surface throughout the book with disturbing clarity. Yes, it is a personal journey, but at the same time Angrist refuses to admit anything special about himself (let alone any skill with social media!). He does tell his own story – of how he packed in research genetics after his PhD, and how he was suddenly and personally pulled back in – but none of that is the point. The big problem is no longer in the technical aspects of sequencing three billion basepairs of DNA; rather it exists in personal and societal interpretation.

In other words, what are we going to do with these data when we have them?

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Portions of this review previously appeared in The Scientist magazine, January 2011