Humanity As the Model System

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Science  24 Oct 2003:
Vol. 302, Issue 5645, pp. 533
DOI: 10.1126/science.302.5645.533

For the past year, I have been a member of a cavalcade traveling around the world to celebrate the 50th anniversary of the discovery of the double helical structure of DNA. We have been asked to talk about the past, the present, and especially about the promise of DNA research for the future of medicine.

It is amusing to reflect that molecular biology was once considered to be a completely useless subject, remote from medical applications and of only academic interest. When sequencing and cloning of DNA were invented, molecular biology was also considered dangerous, capable of creating new diseases and even threatening the evolution of the human species. Eventually, reason prevailed, as it became evident that the remarkable fusion of genetics and biochemistry in molecular biology would be the basis for all future biological research and for the applied biological sciences, such as agriculture and medicine. However, although the potential is real, there is still concern.

We were often asked when the benefits of the knowledge of the human genome sequence are expected to arrive. In the past, lavish promises were made by several of the proponents: There would be vast arrays of new targets for drug development; predictive medicine would be just around the corner; therapies tailored for each individual would be developed; aging and perhaps mortality itself would be conquered. We now know that the genome sequence is only the beginning and that a deduced amino acid sequence is not a target for anything unless we know how it participates in the physiological processes in our bodies. We must know what goes wrong in a diseased state and how we might intervene to prevent or cure the condition produced. As for predictive medicine, we will require extensive information to analyze the genetic contribution to disease and, at least for the common afflictions, we will need to know the environmental components as well. There are now some serious attempts to study genetic association with disease by linkage disequilibrium, using dense markers provided by single-nucleotide polymorphisms (SNPs). Large sums of money have been spent in the public and private sectors on the discovery of SNPs and on making haplotype maps. But these maps will still be at a low resolution, and nothing may come of such experiments if the phenotype description is flawed by incorrect diagnosis and by unresolved multiple genetic effects. My own view is that we need to have high-resolution information available from many humans and that we need to develop an effective technology to accomplish this.

I wonder what medicine will be like in 2053, the 100th anniversary of the discovery of the DNA structure, or even in 2020 (the year of good vision). Many people base their lives on the proposition that they can do what they like to their bodies because medical science will come and save them with a pill. Perhaps the prime value of our work to society will be the creation of a new public health paradigm in which we are all taught how to look after our somatic selves; those who have a genetic background that makes them especially liable to one of the diseases of our civilization will have to learn how to take extra care. We should begin by finding ways of dealing with the growing problem of obesity. How can we change the eating habits of today's children? Should society exercise greater control over what people eat? Are solutions in the large public domain a threat to what people consider their individual freedoms? I think that these questions require more thought than worrying about people trying to clone themselves.

There is also another dimension to these questions. Not everybody in the world today can enjoy the luxury of killing themselves by overnutrition; we have many people dying of starvation. There are also still parts of the world where infectious disease takes a terrible toll; AIDS and malaria are compelling examples. Somehow, in our abstruse discussions about the high technology of health in the developed world, we need to balance the equation by thinking about the rest of the world as well.

I was asked by a student what ethical standards should be adopted by life scientists. I could immediately think of two prescriptions. The first, common to all scientists, is to tell the truth. The second is to stand up for all humanity.

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