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The Genomics Policy Unit (GPU) has led on research into genetics and health since 1996, and has made a significant contribution to this field at both a national and international level. As one of the first Research Units in the UK to focus on the preparedness of the public and healthcare professionals for the `new genetics', we recognised how genetic advances would radically alter how we understand health and disease. The impact of our research has been to show audiences who would not typically engage with genetics, what new opportunities are being offered to improve human health and the social and ethical issues that surround these.
The GPU was an early pioneer of new, interactive research methods, such as Citizens' Juries, to help ordinary people make their views known to policy makers. By 2003 we were engaging nurses and midwives with genetics by supporting them in developing competent practice, setting a benchmark that has influenced competency development programmes for nurses in the UK, Europe and the US. This is important because advances in genetics mean it is moving out of its specialist sphere into wider clinical practice and broader society. This case study describes the two strands of our work — professional and public engagement — and illustrates the significant impact that exposure to genetics has had on ordinary members of the public when they are given the opportunity to acquire genetic literacy and on the nursing profession by contributing to policy and education in this field.
Hogarth and external collaborators at Cambridge have developed a regulatory model for the governance of commercial genetic testing in the EU that requires pre-market review of all new commercial genetic tests and greater public disclosure of clinical data about test performance. Drawing on this model they recommended a number of changes to the current European regulations. In 2012 the European Commission published a proposal for a new regulation on In Vitro Diagnostic (IVD) medical devices that incorporated most of the changes which they recommended be addressed in the revision of this regulation. Hogarth also helped the Human Genetics Commission to draft the first transnational guidance for the regulation of direct-to-consumer genetic testing services.
Methods for valuing quality of life developed by Professor Devlin at City University London are used internationally to help governments make healthcare decisions. Her research focuses on a widely-used questionnaire for measuring patient reported health, the European Quality of Life 5-Dimensions (EQ-5D). Government organisations routinely use the EQ-5D to judge whether new medicines work and are cost-effective. Over 15 countries are undertaking EQ-5D studies using Professor Devlin's methods to inform decisions on pricing and provision of new medicines. These developments have been achieved through active dissemination to the academic community and governments and through Professor Devlin's scientific leadership of the European Quality of Life (EuroQol) Group. The impact of this research is highly significant in improving health and health care decision-making and has had wide reach throughout the UK and in many other countries.
As a result of research from Oxford's Professor Andrew Wilkie, accurate genetic diagnostic tests are now available for over 23% of all craniosynostosis cases nationally and internationally, leading to improved family planning and clinical management of this common condition worldwide. The premature fusion of cranial sutures, known as craniosynostosis, is a common developmental abnormality that occurs in 1 in 2,500 births. Over the past 20 years, the University of Oxford's Clinical Genetics Lab, led by Professor Wilkie in collaboration with the Oxford Craniofacial Unit, has identified more than half of the known genetic mutations that cause craniosynostosis and other malformations of the skull.
Research into cross-border patient care in Europe carried out by LSHTM has contributed substantially to shaping the 2011 EU Directive on Patients' Rights in cross-border health care. The research was cited in numerous policy documents and used extensively in consultations at EU and national level, feeding into the legislative process. Influential EU officials have explicitly acknowledged the importance of the research in the political process. The research team has also advised professional bodies in the health care sector as part of the consultation process.
Research into service user involvement in mental health care resulted in the development of an educational intervention for registered mental health nurses to deliver effective, ethically appropriate therapeutic interventions for highly distressed and disturbed patients.
The research outputs were taken up and implemented by Halikko hospital in Finland, leading to a significant change in policy and practice, including a substantial reduction in the use of coercive techniques. Following the success of this change, other psychiatric hospitals in Finland have adopted the system.
African Wild Dogs (Lycaon pictus; referred to as `AWDs' hereafter for brevity) have been classed as endangered by the International Union for Conservation of Nature (IUCN) for 22 years. Large, well-managed captive breeding programmes provide a safety net to restore wild populations. However, the management of the AWD population has been difficult owing to an incomplete family record of captive AWDs, which risks introducing genetic disorders caused by inbreeding. A genetically informed management plan developed by University of Glasgow researchers has provided a genetic measure of diversity and establishes a genetically informed pedigree, which is used in the European Endangered Species Programme for African Wild Dogs. This has introduced a more informed means to manage the captive AWD population, to maintain the genetic diversity of the species across the European zoo network (roughly half the world's captive AWD population), with 53 zoos in 16 European countries (and Israel) currently participating.
Our research has had impact on the activities of practitioners and their services, health and welfare of patients, on society and on public policy. New diagnostic tests for genetic deafness have been introduced, and healthcare guidelines and professional standards adopted through our investigation of the aetiology of childhood-onset hearing loss. Disease prevention has been achieved by our research on antibiotic-associated deafness, public awareness of risk to health and hearing has been raised, and we have increased public engagement through debate on scientific and social issues. We have also influenced public policy on ethics of genetic testing for deafness with our research resulting in improved quality, accessibility and acceptability of genetic services among many hard-to-reach groups (deafblind, culturally Deaf, and the Bangladeshi population of East London).
Public financing of health services in low income countries was challenged by the World Bank's Agenda for Reform in 1987, which advocated increased roles for private sector, private insurance and user fees. This was followed by a wave of reforms implementing this approach. McPake has been involved in researching the implications of this shift since this period and has published a series of influential articles that have had a demonstrable impact on this debate. Removal of user fees for all, or selected, services or for selected population groups has occurred in many countries, including 28 of 50 countries with the highest maternal and child health mortality included in a recent survey (http://bit.ly/17FUiDM). Witter is the lead researcher who has examined country level experiences of removing fees and it is demonstrable that her work has been applied in specific countries to shape the details of policy and has also had a major influence on the global debate.
Age-related macular degeneration (AMD) is the most common cause of blindness in Western populations and reduces the quality of life of tens of millions of older people worldwide. In 2007 a research group at Cambridge University led by Professor John Yates in the Cambridge Institute for Medical Research discovered that a common genetic variant in the complement C3 gene was associated with an increased risk for AMD. This finding is now being used in a genetic test in North America and Europe to estimate individual risks for AMD. Those found to be at high risk are offered regular eye examinations to detect early development of the wet form of the disease before symptoms arise. This can be treated with anti-VEGF therapy. Early treatment gives the best chance of preserving sight by preventing irreversible damage to the retina.