SUMMARY

—  The NHS is an under-utilised research resource in population genetics which could yield large benefits for public health (through enhancing our understanding of disease) and industrial research.

—  A public-private sector strategy should be developed to identify and mobilise the appropriate scientific and clinical skills, to build large-scale computational infrastructure and to debate, and address, the ethical, legal and social dimensions relating to the use of clinical information, particularly in the context of privacy and consent issues.

BACKGROUND

  1.  Healthcare systems across Europe are a substantial but underused research resource. While for some the rising burden of state-funded healthcare is a major political challenge, it is also, potentially, a source from which the information requirements for the new era of medicine could be harvested. Health delivery systems have much to offer in epidemiology, technology assessment, outcomes research and population genetics. There is significant potential for building partnership by sharing data and analyses to enable better health economic decisions to be made and to increase the cost-effectiveness of health services, moving away from the current budgetary debates based on a narrow focus on individual components of healthcare to an integrated perspective of health outcomes and total costs. There are many ways in which industry together with healthcare providers and academic groups can use healthcare information databases. One major immediate opportunity—to delivery quality and equity in healthcare—is in health economics. There is also another major opportunity, described here in more detail, in early research, building on UK strengths in the areas of population genetics.

  2.  The last five years has seen a revolution in the understanding of disease brought about by the information gained through genetic analysis. Continuing this successful analysis necessitates building population genetics capacity to understand gene-disease associations and to set into their public health context. This requires:

—  Suitable genetic technology.

—  DNA samples from patients.

—  Clinical information on those patients.

  3.  Major investment by the pharmaceutical industry will help meet the first of these requirements. However, the second and third requirements require a coordinated strategy for public-private partnership.

  4.  The NHS is generally a substantial, but underused, research resource. It has much to offer in developing new clinical R&D initiatives in population sciences, technology assessment, the coordination of clinical trials and health outcomes research. The UK is uniquely well-positioned to generate valuable epidemiological data: possessing the resource embedded in the NHS of 50 years of family records, ethnic diversity, access to disease (tissue) libraries and excellent clinical and research frameworks.

  5.  The NHS provides a doorway to probably the largest single source of medical information and well-characterised human biological samples within Europe and has access to substantial populations representing several important ethnic groupings (such as those of Caucasian, Asian and African ancestry). It is also a repository for high level clinical expertise relating to diseases of strategic importance for population health and has access to the large numbers of clinical staff required to evaluate phenotypic data and ascertain DNA.

  6.  The universality of NHS provision of health care offers access to areas of sample acquisition such as across primary care groupings that is not possible in more fragmented health systems or in the smaller cohorts studied hitherto. The national structure also offers the homogeneity of data acquisition that is essential for large-scale genetic studies. The aquisition of DNA samples and data from routine clinical practice would be preferable to collection from clinical trials—for the following reasons:

—  Larger numbers.

—  Less selection bias.

—  More realistic, community cohort (including matching healthy subjects).

—  Opportunity to set unifying standards in research.

This access should be on an anonymous basis to protect the privacy of individual's health data.

  7.  The likely benefits accruing to the NHS (and the UK as a whole) include:

—  Progress in understanding disease at the public health level.

—  Provision of new resources to support NHS R&D.

—  Stimulating production of novel therapeutics, diagnostics and the better targeting of treatment.

—  Attracting inward investment by companies.

  8.  But, the NHS is a sleeping giant in terms of trying to use this research resource in population genetics. It is important now to begin the informed debate on the options for defining scope and scale—from the extension of current cohort studies, through the expansion of regional NHS links, to a nationwide endeavour. A strategy must be articulated to identify and mobilise the appropriate scientific and clinical skills, to build large-scale computational infrastructure and to debate, and address, the ethical, legal, political and social dimensions relating to the use of clinical information, particularly in the context of medical privacy, use of anonymous data and consent issues. To express this strategy and share value, we require a pre-competitive, public/private consortium, fusing technologies and encompassing NHS R&D capacity, private companies, universities and medical research funders and government. Creation of the health research database transcends both what the NHS is currently doing in information technology (relating mainly to clinical care and governance) and what researchers are building with genomic databases. A consortial approach would generate a new lead for the UK in the biosciences and their application in the delivery of rational medicine.

November 1999