Human genetics review sets out opportunities and challenges for the next decade

15 February 2011

DNA molecule
On the tenth anniversary of the publication of the working draft of the human genome sequence in ‘Nature’ and ‘Science’, the Wellcome Trust - one of the key players in the Human Genome Project - reflects on challenges and opportunities in the field of human genetics.

"Sequencing the human genome was a landmark in scientific discovery," says Sir Mark Walport, Director of the Wellcome Trust. "Now that we have deciphered the genome, the challenge is to harness and act upon this new wealth of knowledge to bring about important improvements in the health and wellbeing of populations. Research funders must support the field in ways best suited to deliver these impacts."

To coincide with this landmark, the Wellcome Trust recently launched its Human Genetics 1990-2009: Portfolio Review . In this review, as well as assessing the impact of Wellcome Trust funding, an expert group - chaired by Professor Martin Bobrow CBE, FRS - provided recommendations of how the research community might best maximise the health benefits of human genetics research.

The report highlights the limited progress in areas such as infectious disease biology; for example, there has been little success in the search for common human genetic variants that affect susceptibility to diseases such as tuberculosis and malaria. Likewise, progress has been slow in pharmacogenetics - the study of how genetic variants affect our response to medication - and this is thought to be, in part, due to a lack of funding. The report warns of overemphasising the focus on translational research at this stage, particularly when the enormous biological complexity of human genetics and genomics is still to be unravelled.

Funders should, however, be more willing to support high-quality epidemiology, the report argues. Large cohorts and genome-wide association studies, such as the Wellcome Trust Case Control Consortium , have the potential to generate robust associations between genetic factors and health outcomes. But funding for cohorts and longitudinal-based research must be sustained over the long term, and stability of funding is essential.

The report also suggests that it may be time for funders and researchers to engage with private genomics-based companies. Such companies have a wealth of genomic data at their disposal and could offer much to research if consent and ethical considerations can be accommodated.

There are opportunities, too, for strategic partnerships in the developing world, both to develop fruitful research collaborations and to support the transfer of simple DNA-based technologies, for example to assist in the management of communicable and non-communicable diseases.

Finally, the report stresses the need to support data sharing and open access to data, principles that were emphasised in the Human Genome Project through the involvement of the Wellcome Trust and the National Institutes of Health. This sharing of research findings must be implemented in an environment that safeguards public and researcher confidence.

"The next decade of discovery offers great opportunities, but also poses new challenges," says Dr Michael Dunn, Head of Molecular & Physiological Sciences at the Wellcome Trust. "If we are to maximise the health benefits of human genetics, then it is important that we explore these opportunities whilst being mindful of the societal and ethical implications that they bring."

Over the 20-year period from 1990-2009, the Wellcome Trust committed £740 million to human genetics-focused research, accounting for around a tenth of its total funding. Over this period, the Trust has also been an active player in the formulation of international research policy and strategy in the field of human genetics. The drive to maximise the health benefits of research into the human genome remains a core component of the Wellcome Trust’s funding strategy today.

Image: A model of a short length of a DNA molecule. Oxygen atoms are shown in red, nitrogen atoms in blue, phosphorus in purple and carbons in white. Hydrogen atoms are not shown. Credit: Peter Artymiuk, Wellcome Images.

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Human genetics review sets out opportunities and challenges for the next decade
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