Beyond the genome

The Daily Davos - January 31, 2000 - Volume 3, Number 5 - View section

BEYOND THE GENOME

AMERICA HAS BEEN GOOD AT STUDYING GENES; BUT WHAT ABOUT STUDYING THE ILLNESSES THEY'RE INVOLVED IN?

By Tom Wilkie of the Wellcome Trust

By the spring of this year, the first draft of the human genome -- the sequence of all the genetic instructions needed to make up a human being -- will be published on the Web. But that is only the end of the beginning.

Scientists still have very little idea of what most of the 100,000 or so human genes actually do, and finding out will take them into a very different area of research.

The raw material of the genome program has been anonymous samples of DNA, manipulated by complex laboratory machines that turn out information like a production line turns out widgets. But the new era of post-genome research involves analysing real people and their confidential medical records. The records are needed to match the genes that people carry with the diseases they may develop. Only then will gigabytes of genetic data into new treatments for cancer or heart disease. And that is why socialised healthcare is a vital part of post-genome research.

Countries such as the U.S., which provide healthcare through private enterprise, are useless for this sort of genetic inquiry. Only those countries which have organized the delivery of healthcare to their population in a way that is independent of the marketplace have built up the universal medical records necessary to make sense of the patterns of disease. (The Mormon Church, with its genealogical records, has provided a partial surrogate in the some of the U.S., which is one of the reasons that a surprising number of human geneticists and biotechnology companies are based in Utah.)

There is an immense paradox here, for private enterprise has moved into human genetics and biotechnology in a way not seen before in any area of science. Research which would once have been regarded as basic, not-for-profit science -- a public good in all the senses of the word -- is now conducted by big pharmaceutical companies or by biotechnology start-ups, which patent the research results. What would once have been given freely to the entire scientific community has become private intellectual property.

The sequencing of the human genome there has been marked by competition between scientists working in the public domain (supported mainly by the National Institutes of Health in the U.S. and the Wellcome Trust in the U.K.) and a private company, Celera Genomics. The publicly funded scientists seem to have won the current lap of the race. But it is a race that they never really wanted to take part in, and the outcome remains in doubt until the details are published of any U.S. patents granted to Celera. There is still scope for prolonged litigation over the intellectual property rights to the genes present in every human being's body.

The irruption of the marketplace into basic science has already provoked controversy. One recent example: this month the U.K.'s National Health Service received demands for royalties on genetic tests it is using to identify a particular predisposition to breast cancer. A U.S. biotechnology company -- based in Salt Lake City -- has patented the genes used in these tests, which its researchers discovered only after a great deal of groundwork had been done in the public domain. The royalties have been set so high that they will strain the budgets of some U.K. clinical genetics centres enough to curtail either the use of this particular test or, if the breast cancer tests are prioritised, the use of genetic tests for other predispositions.

An inevitable aspect of the role of private enterprise is that many rare genetic conditions which cause grievous hardship, suffering, and premature death will not now be fully studied so that cures can be developed. Most illnesses traditionally called genetic are quite simple, involving the malfunction of only a single gene. This simplicity is what allowed scientists to know that the diseases were genetic in the first place -- the gene's progress down the generations in a few unlucky lineages stood out.

But such genes are hard put to spread far and wide, since they kill the people who might otherwise pass them on. So the diseases are quite rare. Cystic fibrosis, the most common single-gene disease in caucasians, affects about one person in 2,500.

Scientists always start with simple cases; the world's geneticists sharpened their research tools on these single gene disorders, finding the genes for many of them and thus making tests possible. The step after the identification of the gene -- working out what the gene does in the body -- is both critical to finding a treatment for the condition and much harder to do. Since the diseases are rare, this step is normally not taken by commercial companies. They are moving on instead to the more complicated genetic components of more profitable illnesses, such as heart disease and the more common cancers.

To do this they need to get a lot of information about a lot of people. How will the marketplace deal with the new need for access to collections of large numbers of personal biomedical samples and the associated confidential medical information? One response has already been seen: the Government of Iceland has legislated to permit a single commercial company monopoly --DeCode Pharmaceuticals -- access to the healthcare records of its entire 270,000 population. Although the tradition of medical ethics is that people should opt into treatment or research only after they have given their informed consent, in Iceland consent is presumed; opting out requires a specific decision.

The combination of biotechnology with information technology may be creating a new commodity for trade in the marketplace, following the transformation of genes from objects of scientific knowledge into marketable products.What is being traded in now is not so much products of nature -- although the ownership and control of human body samples is important -- but information about nature: bioinformation. Within economics, commodities are taken for granted as entities subject to supply and demand. Within societies at large, the birth of a new commodity is a complex matter typically surrounded by intense moral debate.

Most Western European countries have had a relatively good experience of dealing with the ethical implications of biomedical innovations, such as human embryo research and in-vitro fertilisation. These issues have required sensitive management and time to develop a consensus among all the stakeholders as to how they could be regulated. Embryos have not become tradable commodities. But although such techniques are socially and culturally sensitive, they have none of the immense significance for the economy of the new human genetics. It is harder to regulate the use of a technique if vested commercial interests are at stake, and the dynamic of a modern economy leaves little time for moral debate over the direction a technology is taking. So it is easy to imagine that the market, and not morality, will determine the future of the new genetic technology. But the possession of those vital nationwide records means that the non-commercial parts of society still have at least one tool on their side.

Tom Wilkie is head of biomedical ethics at the Wellcome Trust

Copyright © 2000 Newsweek.