Mapmakers chase $1 prize

October 18, 1996

If universities have changed enormously in the past quarter century, so too have the ideas that are taught in them. Jon Turney looks at the extraordinary advances in genetics.

The pace of advance in genetics has been so extraordinary that the early 1970s are plainly a different era. The elements of recombinant DNA technology were first assembled in 1973, making it possible for the first time to move pieces of the genetic material around between cells, even cells of different species. Since then, there have been exponential improvements both in technique and in science. Whether the lay public is any better prepared for the fruits of that science is an open question.

In technology, microcomputers are the only field which can possibly rival laboratory genetics. Recombinant DNA has been followed by a remarkable series of advances in technique - in DNA sequencing, mapping, fingerprinting, and amplification - which mean that the fine structure of the genes of higher organisms can now be read in as much detail as we choose.

In the mid-1980s, serious discussion began about the possibility of mapping and sequencing all of our own genes - perhaps 50,000 or 100,000 of them. And by the end of the decade James Watson was installed as first head of the US National Institutes of Health's Office for Human Genome Research. The co-discoverer of the DNA structure in 1953 now saw Congress willing to fund the translation of the "Book of Man", what Walter Gilbert called the Holy Grail of biology - the sequence of our three billion DNA base pairs, for around $1 per base.

The human genome project was a technological enterprise, but the new techniques had already transformed scientific understanding in innumerable ways, large and small. Genes themselves were now more complex entities, no longer simple strings of code, but often fragmented messages which could only be translated after extensive editing and processing. And molecular genetics became the approach which refreshed the parts of biology other advances could not reach, enriching understanding in evolutionary biology, embryology and developmental biology, and neuroscience.

Nearer to the everyday, there was an acceleration of the movement of genetics into medicine. There have been many notable discoveries of single genes whose alteration can cause disease more or less directly - Huntington's disease, cystic fibrosis, and muscular dystrophy were among the earliest major successes.

More significant in the long run will be the clearer genetic understanding of cancer - emphatically not a simple, single gene disease, but intricately bound up with intra- and inter-cellular regulation. And there appeared the beginnings of even more far-reaching developments, of testing for susceptibilities to many other common diseases, from heart disease to arthritis or Alzheimer's disease, and of gene therapy.

The new genetics was marked by upheavals in the social relations of the science, as well as enormous changes in the way the science is done. Highly commercialised, regulated, subject to continual ethical inquiries, beset by controversies about patenting, insurance, or the possibility of a new eugenics, the milieu in which the research is now conceived and executed has been comprehensively reshaped because it occurred to some of the experimenters that their techniques might not be entirely safe.

The second phase of debate is building up now, as we near the end of the first century of genetics. And there is much disquiet about what the new-found power to probe our genetic constitution will mean. Here, the proponents of the genome programme are to some extent victims of their own rhetoric. Having promised great things, many of which everyone would welcome, they also point to the possibility of less desirable outcomes. We would all like to know about genes for cancer. Genes for homosexuality, if such there be, are more problematic. It is still possible that the pursuit of the genome programme will uncover such complexities that both the promises and the threats have to be scaled down - that the reductionist programme contains the seeds of its own demise. But until that is clear, we will continue to debate whether the downside of predictive medicine will be a genetic underclass: and whether, ultimately, the point of reading the complete genetic text is to see how to rewrite it.

Jon Turney was features editor of The THES until 1993 and is now the Wellcome fellow in science communication at University College London.

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