Sir David Weatherall reflects on genetics and personalized medicine. Interviewed by Ulrike Knies-Bamforth.
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Biomedical subjects
Publications and source records attributed to David Weatherall.
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Due to lack of appreciation of the complexities of the interactions between nature and nurture, claims for the rapid improvements in medical care following the human genome project have been exaggerated. Although some progress has been made in certain fields, the full scope of genomic medicine may not be realised for many years.
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For a better understanding of the pathophysiology and mechanisms of phenotypic diversity of sickle cell disease, and for the improvement of its management globally, there is a strong case for developing sustainable research partnerships between rich and poor countries.
The thalassemias pose an increasing burden for health-care services in many Asian countries. In order to conserve rare resources, it is essential to determine the reasons for the remarkable phenotypic heterogeneity and natural history of these disorders so that the most cost-effective methods for their control and management can be established. A long-term observational study of patients with different forms of thalassemia in Sri Lanka suggests that in addition to the well-defined primary, secondary and tertiary genetic modifiers, environmental factors, particularly malaria, and variation in the ability to adapt to the profound anaemia which characterizes these conditions, may play a significant role in determining their clinical severity. These findings may have important implications for the control and management of thalassemia in Asian populations.
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Throughout much of the world, universities have driven towards industrial partnerships. This collaboration, which, in the biochemical field at least, has to continue if potential benefits for patients are to be realised, has brought with it a number of problems. These include the neglect of long-term research in favour of short-term projects, the curtailing of free dissemination of research information within university departments and the biasing of results of clinical trials by the financial interests of the investigators. It is very important that governments, universities, and industry itself address these problems. Universities should monitor the amount of basic, curiosity-driven research that is being carried on, compared with that which is more short-term goal orientated. PhD students and post-doctoral fellows should be exposed to the principles of bioethics early on in their careers. Further work is necessary on the terms of research contracts to protect, on the one hand, the rights of individual scientists and, on the other, industry from rogue scientists. Where problems arise, procedures should be in place for independent reviews to be conducted by bodies such as the Medical Research Council in the UK or the National Institutes of Health in the USA. The conflict-of-interest rules recently introduced for publication in medical journals should be extended to all branches of science.
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Cyril Clarke was an outstanding physician, medical scientist and lepidopterist. His career was unusual in that he developed a serious interest in medical research only after many years in clinical practice, a change of direction from the life of a busy consultant physician that was undoubtedly stimulated by his lifelong interest in butterflies. This remarkable transition was to result in his leading the team in Liverpool that developed a method for preventing rhesus haemolytic disease of the newborn, one of the major advances in preventative medicine of the second half of the twentieth century.
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