Consciously imitating the challenge David Hilbert laid down to mathematicians at the beginning of the twentieth century, Collins et al go on to outline a bold plan to tackle the 'Grand Challenges' in the areas of 'genomics to biology', 'genomics to health' and 'genomics to society', in their magisterial 'blueprint for the genomic era' article in Nature.
What does this era hold, and how much is the promise of understanding of and therapies for human disease, never mind the promise of a 'post-human' future, based more on H Y P & E than A C G & T, as Steve Jones put it?. I certainly don't know for sure, and I'm not sure anyone with far better knowledge of the science could confidently predict either. But here are three observations and opinions based on following these debates over a number of years.
In the mid to late 1990s, some held out the promise of a fairly imminent revolution in medicine based on the new genetics. John Bell, for example, believed that 'considering the current rapid acquisition of genetic information relating to common disease and the dramatic technological developments that continue to fuel the field, it would be surprising if most of the major genetic factors involved in human disease were not defined over the next 5-10 years. This information will form an important template for redefining disease, clarifying biological mechanisms responsible for disease, and developing new treatment for most disorders'. Some progress has been made, but on the whole this hasn't happened, and the timescales have been pushed back to 20-50 years. However, the conceptual framework outlined by Bell retains its validity, and is echoed by Collins et al.
Following on from this, while it would be foolish to underplay the medical promise, truncated timetables and talk of therapies around the corner serve nobody well. Scientists would do better to present much of their work as basic research, with its own immediate justification of expanding knowledge. Whether any of the promise is realised, and surely some of it will be, the effort is a heroic one, and in many ways the only game in town in terms of addressing some fundamental questions. The fact remains that 'the double helix inevitably interacts with the environment, directly and indirectly, to predispose or protect us from disease'. A corollary of this is that scientists and others should steer clear of hyping up threats in the social realm posed by new genetic knowledge. Genetics needs to be put back in its box, in every way, for the moment at least.
The pattern of identification preceding therapeutic intervention by a considerable margin looks set to continue for the better-characterised single gene disorders. But even in the absence of a therapy, genetic diagnosis is very important: putting a name to a disorder can be very helpful in opening up a management strategy for the disorder, while genetic testing before and during pregnancy has been important in allowing women at risk of having a child with a genetic disorder a choice and therefore some control over the risk. It may not be popular with some, but if health service planners want to make a difference in the short term to the lives of real people, they should look at how they can maximize those choices through better access to antenatal and preimplantation genetic testing services and to wider possibilities opened up by preimplantation tests.
John Gillott is policy officer at the Genetic Interest Group