The use of race/ethnicity in applied population genetics research: implications of scientific practice, public health and access to health care. (360G-Wellcome-073524_Z_03_A)

The development of novel diagnostics, therapeutics and health services is increasingly predicated on the search for significant biological differences within and between populations. This has led to the creation of large-scale scientific projects that map genetic variation, including human genetic databases focused on populations defined according to geography, nationality, race/ethnicity or disease. However, comparisons of genetic differences between populations raise important scientific, social, ethical and policy questions. This is an empirical study of how the categories of race/ethnicity are used in applied population genetics research and the implications this may have for scientific practice, public health and access to health care. The research is focussed on a detailed analysis of two case studies (the aetiology of common diseases and the pharmacogenetics of drug metabolism) and is designed around four discreet, but intersecting, 'workpackages' that explore the conceptual, practical and policy implications in commercial, scientific and health policy settings. Primary data will be mainly derived from 60-70 UK interviews. The research will firstly analyse how concepts of race/ethnicity have been used in the scientific literature covering the two case study areas. It will also explore more general debates about the use of these categories in genetics and biomedical research. The project will then examine how concepts of race/ethnicity are used in the two case studies of applied population genetics and analyse their influence on research agendas, study design and scientific findings, as well as their social, ethical and policy implications. This will be followed by an assessment of the potential implications of applying the findings of population genetics research, based on the use of racial/ethnic categories, in health policy, the development of NHS services and the provision of healthcare. Finally, the project will identify 'good practice' for the use of racial/ethnic categories in both population genetics research and health policy, planning and practice with the aim of improving the acuity of research and promoting equity in health.