The genomic challenge

It's huge and the NHS is poorly prepared to meet it

Is the United Kingdom set to become Europe's genome valley? The British government is determined it should try, and the Department of Trade and Industry is spearheading an initiative to build on Britain's strong bioscience base and exploit its commercial potential. Within Europe the United Kingdom has the lead in genome research, and the government sees support of the science infrastructure, including the burgeoning number of private biotechnology companies, as essential to future development of new biotechnology products, including medical diagnostics, vaccines, biopharmaceuticals, and new gene based medical treatments. It has also explicitly accepted the potential of the genomic revolution to improving the quality of health care. But improving the infrastructure and getting the benefits of genomics into patient care is a daunting task.

The last comprehensive spending review boosted the science budget by £1.4bn over three years, with effect from January 1999. The new funds, which represent a real increase of about 15%, will be shared among the whole scientific and engineering community, but there is a clear focus on life sciences and genomics, and the leading beneficiaries are the Medical Research Council and the Biotechnology and Biological Sciences Research Council.1

The science community has welcomed the government's action, but the prioritisation of funds and the timescale have raised important concerns. Speakers at a recent symposium on science policy in London, organised by SmithKlineBeecham, warned of science being seen as a utilitarian tool for wealth creation. Innovatory, if not obviously economically “useful,” research needs to be supported if the government is serious about promoting a science culture. It must also be accepted that scientists will find it difficult to deliver measurable returns after three years: the pace of scientific advance and its translation into new practice or products is usually measured in decades. Equally, however, scientists must accept that increased funding has to be shown to have an impact, and both the allocation of funds and the evaluation of research output should be rigorous and transparent.

A crucial factor influencing future government funding of science is the public's perception of whether the science community “delivers.” Too often public expectations have been raised falsely as preliminary results of research have been presented as breakthroughs and cures.2 Scepticism about the future direction and motives behind some genomic research is evident. This is most evident in the passionate but often poorly informed debate over genetically modified foods, but health is not immune. There are genuine anxieties about how genetic information will be used and who will have access to it, which have come to the fore again in the government's recent decision to introduce a two year moratorium on genetic testing for insurance purposes.3

More than ever, therefore, it is important that genetic advances are reported clearly and unsensationally and the nature of the “promise” they hold—and the likely timescale for delivery—spelt out. Postgenome research (the entire human genome should have been sequenced by 2002) will undoubtedly enhance understanding of disease mechanisms and fuel the development of more effective drugs and vaccines. Also, the increasing availability of cheap reliable DNA typing techniques will allow widespread predictive testing, risk stratification, and presymptomatic treatment of populations at high risk of developing common diseases.4 Just how fast and how far the new public health genetics should develop, however, is uncertain.

It's a difficult time for research scientists. The independence, size, and strength of academic medical institutions in both the United Kingdom and the United States have been eroded in the past decade. Many institutions have gone into partnership with industry, and conflicts of interests cannot be ignored. The drive to meet service commitments, cope with declining infrastructure, curb costs, and satisfy the expectations of funders is taxing. Support for academic research and training clinicians in research methods seems to fall low on the list of priorities.

Ironically, therefore, at a time when the growth in new scientific information has never been faster the number of well trained clinical scientists available to interpret it and begin to translate it into clinical practice by, for example, setting up clinical trials, is diminishing. Medical schools are employing fewer basic scientists, and science curriculums have been pruned to incorporate more “soft” sociological subjects. As a result there is less time to teach scientific methods and stimulate scientific inquiry.

Another concern is that the pace of scientific advance is outstripping the ability of the NHS and those who work in it to understand and respond. Already we are failing to ensure that current best practice is incorporated into routine care, and mechanisms for evaluating new technologies are weak.5 The genomic revolution is, however, a nettle that the NHS must grasp. If it fails to take a more active role in the development, evaluation, and clinical application of advances in genomics and work with those doing the research then development will be patchy and ad hoc, and opportunities will be missed. As a new report from the Institute for Public Policy Research points out, the very fact that there is uncertainty about what genomic medicine will deliver in terms of improved health care makes it all the more urgent that the NHS should develop a coherent strategy.6 It must anticipate and respond to innovation, not block it.