Commentators' Views on the Announcement of the First Draft of the Human Genome

Leading ethicists, geneticists, Government scientific advisors and the pharmaceutical industry give their perspectives on the effect the publication of the first draft of the human genome will have

Commentators' Views on the Announcement of the First Draft of the Human Genome

Richard Dawkins, Simonyi Professor of the Public Understanding of Science, University of Oxford

Professor Dawkins has also written a number of books, the most recent being Unweaving the Rainbow.

"Along with Bach's music, Shakespeare's sonnets and the Apollo Space Program, the Human Genome Project is one of those achievements of the human spirit that makes me proud to be human. It is also pleasingly appropriate that the Sanger Center has contributed so largely to this magnificent enterprise of international cooperation, given that the founding genius of macromolecular sequencing is Fred Sanger."

Martin Bobrow (CBE, FRCP, FRCPath), Professor of Medical Genetics at Addenbrooke's Hospital, Cambridge

Professor Bobrow is currently Chairman of ULTRA (Unrelated Living Transplant Regulating Authority), a Wellcome Trust Governor and a member of the Human Genetics Advisory Commission.

"Research always builds on previous knowledge. Human Genome Project sequence data has been accumulated more and more rapidly on the web, publicly available for some years. The achievement of a fairly complete draft sequence is the celebration of a milestone, rather than the sudden unveiling of previously unsuspected treasures.

"But it is a hugely significant milestone and there are many treasures there for health related research. It is rather like reaching the top of a mountain pass and seeing in front of you a fertile plain, rich with new ideas, new methods, new techniques and new concepts for understanding the complexity of human biology in health and disease. This better understanding will result in more certain and accurate diagnosis of disease, new approaches for developing effective medicine, better "tailoring" of medicines to suit individual patients and new ideas for disease prevention. This progress will come over future decades as the new information on the human genome is translated into useful discoveries by scientists and doctors of virtually every discipline.

"It is critical that this advancing science explains itself transparently, is appropriately regulated and not abused, so it retains public confidence. There is no reason to think that the potential for harm cannot be controlled. The potential for benefit is a massive prize well worth fighting for."

Sir Robert May, Chief Scientific Advisor to the Government

"This has been a huge feat of scientific teamwork across countries and across disciplines, and we should all pay tribute to the massive undertaking this represents. Sequencing the human genome is one of the transforming events in science - events that change our whole view of where we stand in the universe. Ever since Darwin we've been trying to understand the detail of how the world got to be the way it is, but it's only now that we are beginning to understand the history of life as it's written in our genes.

"Of course, we have a long way to go before the benefits of this work are realised. The unravelled genome is, on its own, simply a list of chemicals. The next stage is to try to understand how those chemicals work together to create the genetic instructions that operate our bodies.

"Having the basic sequences in the public domain basic will mean that scientists will be able to work on them to make advances in detection and treatment of medical conditions in a completely new way. I am certain that we can look forward to new forms of medicine based on the understanding of the molecular machinery of life."

Sir David Weatherall, Wellcome Trust governor

Professor Sir David Weatherall (MD, FRCP, FRS) is Regius Professor of Medicine at the University of Oxford, with a particular interest in blood disorders, including thalassaemia.

"The near completion of the Human Genome Project is a remarkable achievement, which will lay a firm base for some remarkable developments in biology and medicine in the new millennium. In essence, it will set us on the long road of learning how our thousands of genes function and in the longer term, how they are orchestrated so that they can control the functions of our cells and organs. In the long term, this information will undoubtedly help us to solve the most important question in biology, that is, how does a single fertilised egg turn into an adult animal or human being.

"Along the way there will be immense benefits for clinical medicine. These will include better approaches to diagnosis and treatment of diseases that are purely genetic in origin, but it will also help us to understand the interactions between our environment and our inheritance that are responsible for many of the common diseases of society, such as heart disease, cancer, rheumatism, diabetes and so on. This better understanding will undoubtedly lead to completely new approaches to prevention and treatment of these disorders. The news is equally good for the countries of the developing world since lessons learnt from the human genome will have direct relevance to the development of new approaches to the prevention and treatment of infectious disease.

"The announcement of the semi-completion of the Human Genome Project does not mean that medical practice will be altered overnight. But it provides a sound basis for the exploration of disease in ways that have hitherto been impossible, which, in the long term, should have major benefits for mankind."

Steven Rose, Professor of Biology and Director Brain and Behaviour Research Group, The Open University

Professor Rose is also Joint Gresham Professor of Physic with Special Reference to Genetics and Society.

"Congratulations on the technical achievement, which is huge. Having said that what does it offer?

"For basic science - not much as yet. A string of letters is just that. The hard conceptual work and clever experiments (as opposed to the application of the firepower of massive sequencing and information technology) is still to come.

"For this we need to understand just how the cell controls and regulates gene expression during development. It's a commonplace that the chimp genome is 99%+ identical to the human yet no-one would mistake a human for a chimp. We need to understand the rules of development, and to move beyond naïve concepts of 'genes for' this or that towards an understanding of what are now called functional genomics and proteomics, that is the dynamic cellular processes within which genes are engaged (that used to be called biochemistry, but that's another story.)

"But to do so we need to go beyond the hype and beware seductive but misleading metaphors - 'instruction books for human life' 'code of codes' and all that stuff. This isn't a scientific or conceptual revolution, but a necessary step in a long route march.

"For human health - again, not much and that not for a long time. Diagnostics apart, the new genetics has not yet done much by way of enhancing treatment. But it will. Forget gene therapy, this is still a way off even for monogenic disorders and implausible for polygenes. The benefits when they come are likely to come from pharmacogenetics -- the use of genetic techniques to identify cellular processes that go awry in common disorders and then rational drug design -- as is emerging with the identification of the genetic risk factors for Alzheimer's disease for instance. But again the hype has far outrun the actuality, and it shouldn't be oversold. The major determinants of human health and illness are still unlikely to be significantly modified by the new knowledge.

"For society in general - there are grave concerns over the way in which patenting and ownership of part of every human's 'natural birthright.' The genome race has been unseemly and unsavoury and hasn't done the image of science much good....and the over-exaggerated claims either of biology as destiny, our fate in our genes, or the prospects for designer babies and so forth. Given public concern over genetics in the context of GM food, it behoves scientists to beware of being accused of playing God...."

Dr Tom Shakespeare, Policy, Ethics and Life Sciences Research Institute, International Centre for Life

Dr Tom Shakespeare works to promote public understanding of science and bioethical debate at the Policy, Ethics and Life Sciences Research Institute, Newcastle. He has written and broadcast widely about disability and genetics. Four members of his family have been affected by achondroplasia (short stature).

"Of course, it's exciting that we now have an outline of the human genome. But we need to put this announcement in perspective, and think carefully about what we do with the knowledge.

"We don't know what all these genes do yet. We don't even know how many genes there might be. And we know that we share 51% of our genetic material with yeast, and 98% with chimpanzees. Human beings are more than their genes. Knowing that I have a G to A transposition at point 380 of my FGFR3 gene doesn't explain my story. William Shakespeare still has more to tell us about human nature than genomics.

"It's dangerous to think information is always beneficial. Ignorance may be bliss. Will people want to know about genetic susceptibility to disease, especially when it is incurable? Only 12% of people at risk for Huntington's want to find out their status. Prenatal information creates terrible dilemmas for prospective parents. Some genetic conditions may be best avoided: others have a minor impact. Where do we draw the line?

"And who has the right to know about our genetic make-up? Will employers, insurers, or the state use this knowledge to discriminate against people unfairly? Will our genetic privacy be protected?

"There are many reasons for caution and anxiety. We have spent $3 billion on big science. Now the real work begins, to decide democratically how we use this data to benefit humanity, rather than to reinforce inequalities and fund corporate profits."

Professor Vivienne Nathanson, Head of Ethics and Professional Resources, British Medical Association

"This is an extraordinary moment in the history of science and medicine - we now have the building blocks to understand far more about our bodies and thus about disease and health. This new knowledge is a beginning - a beginning to the development of new diagnostic tests, new treatments, perhaps even new cures. It may in fact be the beginning of the end to huge areas of human suffering.

"This new knowledge is a powerful tool. Biomedical scientists must show that we can be trusted to use this tool ethically, sensibly and in ways which will be sensitive to the controls the public would wish to see in place. As with so many things the knowledge itself is morally neutral, the way we use it must be carefully scrutinised to ensure it is morally right. We are more than simply the sum of our genes. But our genetic basis is always significant in health and in illness. A real understanding of our genetic base should change our understanding of human health forever. It will also reinforce our understanding of how little difference there is between any two people. And that should also help us to reduce the fear and prejudice which are so prevalent globally."

Bill Fullagar, President of the Association of the British Pharmaceutical Industry

"The announcement that the working draft, or first assembly, of the human genome has been completed is a wonderful achievement for science and for humankind as a whole. The knowledge of our genetic make-up will herald a revolution in new diagnostic tests and eventually better and more effective medication. It opens up the way for the era of personalised medicine - away from one size fits all treatments and towards medication designed for specific genetic make-ups.

"The pharmaceutical industry is ready to use the knowledge provided by the Human Genome Project to launch a vast range of new attacks on disease and illness. The knowledge will be of incalculable benefit in improving human health."

Sir Aaron Klug, OM President of The Royal Society

"This momentous occasion is an ideal opportunity to look forward to the future, but also to take stock, to understand how far we have come and how we have got here.

"The work in Cambridge at the Medical Research Council Laboratory of Molecular Biology (LMB) on sequencing the 100Mb genome of the nematode C. elegans led the way in genomic sequencing. It was begun in 1990, in collaboration with Bob Waterston's lab in St Louis Missouri.

"In 1992 it was the evident success of this sequencing project that allowed John Sulston and me to approach the Wellcome Trust with a proposal for the human genome - a proposal that led to the founding of the Sanger Centre. In 1998 the nematode became the first multicellular organism to have its genome sequenced.

"But the contributions from Cambridge go back further. In 1977 Fred Sanger and his team at the LMB invented the method (dideoxy sequencing) still used today. His teams also developed many of the techniques to improve sequencing technology. And all before the personal computer had been developed.

"The approach of shotgun sequencing by the Sanger method and clone-by-clone analysis as developed for the nematode underpins today's announcement. All of genomic biology rests on these foundations - the work with the nematode illuminated the path forward while others were still discussing the route.

"Just as important, all the genomic projects recognized that the DNA code must always be interpreted - and today we see the sophisticated analysis by the software tool ENSEMBL, which identifies genes using a complex series of tests. Morevoer, it embodies the spirit of the Human Genome Project - it is free, it asks researchers to improve it and provides open software.

"The complex code of the human requires all to work together - openly, freely, without restriction - if we are to realize the benefits it may bring. This ethos, which stems in part from the researchers who pioneered the field, lives today in the work of the Human Genome Project."

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