sábado, 17 de abril de 2010

PHG Foundation | Debate marks tenth anniversary of draft human genome sequence


PHG Foundation is the trading name of the Foundation for Genomics and Population Health, a charitable company registered in England and Wales
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Debate marks tenth anniversary of draft human genome sequence
8 April 2010 | By Dr Caroline Wright | Research article


Following the initiation of the Human Genome Project in 1990, a first draft of the human genome sequence was released nearly ten years on. Various journals have decided to commemorate the tenth anniversary of this achievement by publishing articles and discussion from eminent researchers and commentators in the field, debating the importance of human genetics and genomics. What is perhaps most notable about this plethora of riveting reviews is the undercurrent of uncertainty, which flows beneath the surface of the plaudits, over the value of genomics research for medicine and health.


A special issue of the journal Nature includes several excellent overviews of the underlying complexity revealed by modern biological research, the race to sequence the first human genome, and the recent explosion in the amount of sequence data. Perspectives from leaders of both the public and private sequencing efforts in the US reveal much about the progress – both actual and expected – towards the much lauded goal of personalised medicine. Venter, now head of the J. Craig Venter Institute, predicts that personal genomic data will soon become a “commodity” due to enormous increases in sequencing capacity, but accepts that there “is still some way to go before [genomics] can have a significant impact on medicine and health” [Venter, JC. Nature (2010) 464:676-7]. Part of this challenge, he believes, will be accurately cataloguing phenotypes rather than genotypes. Collins, now Director of the NIH, remains positive about the future of genomics in medicine, and helpfully lists “five major lessons that could be gleaned from this first decade of the genomic era” [Collins, F. Nature (2010) 464:674-5]:

1.free and open access to human genome data is crucial for progress;
2.the public and private sectors should continue to invest in developing new genomic technologies;
3.the success of personalised medicine will depend upon large studies to identify genetic and environmental risk factors;
4.public-private partnerships will be needed to develop targeted therapeutics; and
5.good policy decisions are needed with regard to issues such as protecting personal privacy and education of heath professionals and the public.
The BMJ also contains two opposing responses to the question “Is modern genetics a blind alley?”, one from a practicing GP [Le Fanu,J.BMJ (2010) 340:c1156] and the other from a distinguished genetics researcher [Weatherhall, DJ. BMJ (2010) 340:c1088]. Despite a passionate and compelling defence of genetics from the Oxford Regius Professor Emeritus, it is nonetheless revealing that, from the perspective of a practicing primary care physician, “the influence [of genetics] on everyday medical practice remains scarcely detectable” and it remains a small component of disease.

Comment: There is no doubt that enormous advances have been made over the last decade in our understanding of human biology and disease, which have been catalysed by the human genome project. The sequence of the human genome itself has provided a glut of information, which will no doubt inform the future development of new diagnostic and therapeutic strategies. So why is there so much debate?

Part of the underlying problem is the slow and difficult process of translating scientific knowledge into clinical practice and improvements for health. Translational research involves much more than basic science, proof-of-principle or 'bench-to-bedside' studies. It also requires clinical evaluation, evidence synthesis, analysis and dissemination of knowledge, as well as policy and service development. The benefits of genomics research are emerging, but given the pace of technological advance, it is essential that these final phases of the translation process are recognised and adequately funded.

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PHG Foundation | Debate marks tenth anniversary of draft human genome sequence

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