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The Wellcome Trust gives around £700 million to research each year. Naturally, the Trust wants to know where this money is going, and how well it’s being spent. This involves contextualizing Wellcome-funded research, and they’ve just published a fascinating timeline (see below) of research in (human) genetics, starting with Darwin and Mendel, noting the publication of the Human Genome Project and bringing us right up to date with 23andMe and the sequencing of cancer genomes.

In this guest post, Evaluation Team Leader Liz Allen, and Claire Vaughan, Evaluation Adviser at the Wellcome Trust, take us through the Wellcome’s self-evaluation basics.

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Understanding the impact of funding biomedical research can be challenging, but if done sensibly (and proportionately) can provide important insights that will help inform future strategic decisions.

Over the last 20 years the Wellcome Trust has provided substantial support for human genetics research and has been an active player in the development of international research policy and strategy.  Between 1990 and 2009, we provided over £740m for human genetics research, accounting for around 10% of our total spend; support for genetics continues to be a cornerstone of our funding strategy today. We recently published our portfolio review Human Genetics 1990-2009.  This is the first in a series of reviews that will help us understand how our funding is making a difference, where and why this might be and provide important insights  where the future might lie.

In the portfolio review we take a macro, helicopter view, an approach at a greater level of granularity than scrutinizing the outputs linked to individual grants.  We recognize that we are one of a number of funders who have helped to drive forward the field of human genetics and genomics.  We recognize that research process in biomedicine is incremental and it can take some considerable time for research to have any kind of impact on health or clinical practice.  And, we don’t claim impacts as our own. Our approach enables us to understand better the context in which our support for research has taken place (see the genetics Timeline):

Key findings

With the help of a group of human genetics experts, the Wellcome Trust’s key contributions to date are thought to have been in three areas:

• the provision of stable and sustained funding to build research capacity and infrastructure to support human genetics and genomics – particularly in the UK
• providing optimal support for researcher leaders, who have made several key discoveries and advances in knowledge that are likely to underpin future human genetics research
• forging partnerships and developing research policies, internationally, that have helped to ensure access to the findings of human genetics research.

Our experts emphasized that (while obviously a help!) it is not always about how much money is invested; it is about being bold, flexible and agile enough to act at opportune times and take risks.

Challenges ahead

Over the past 20 years, perhaps the most significant breakthroughs in human genetics have resulted from ‘big’, technology-based, collaborative efforts.  Now that the human genome has been deciphered, the paradigms within human genetics are shifting. The challenge is to harness and act upon this new wealth of knowledge to bring about real changes to the health and wellbeing of populations – and to support research in ways best suited to deliver these changes.

Looking to the future the review identifies several research challenges:

• The need for further underpinning research (‘wet lab’) into basic biological mechanisms and genetics, including research into monogenic disease and the genetics of infectious disease
• The need for improved phenotypic definition among populations, as well as a requirement to undertake more human genetic studies on non-medical traits
• The need for high-quality epidemiology; well-powered cohorts and genome-wide association studies are required to generate robust associations between genetic factors and health outcomes and to secure adequate statistical power on rare variants
• It is timely to consider how funders and researchers might engage with private genomics-based companies, including those not focussed on primary research. Many private companies offering services directly to the public have a wealth of genomic data at their disposal; if consent and ethical considerations can be accommodated, such companies could offer much to research
• The need to ensure the involvement of clinicians and pathologists in human genetics-related research
• The need to guarantee global data sharing and open access to genetic and genomic data remains an important principle and funders need to work together to develop sound governance frameworks
• The need to harness the opportunities presented by new and emerging science markets across the world, both to develop fruitful research collaborations and to support the transfer of simple DNA-based technologies.

In all of this, it remains crucial that we, as funders, work with stakeholders in research to ensure that considerations of the ethical and social implications of human genetics research are integral to all that we do.

For further detail on the findings and methodology of this portfolio review, see the full report at www.wellcome.ac.uk.