The emergence of networks in human genome epidemiology: challenges and opportunities.
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Biomedical subjects
Publications and source records attributed to Ron Zimmern.
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Networks of investigators have begun sharing best practices, tools and methods for analysis of associations between genetic variation and common diseases. A Network of Investigator Networks has been set up to drive the process, sponsored by the Human Genome Epidemiology Network. A workshop is planned to develop consensus guidelines for reporting results of genetic association studies. Published literature databases will be integrated, and unpublished data, including 'negative' studies, will be captured by online journals and through investigator networks. Systematic reviews will be expanded to include more meta-analyses of individual-level data and prospective meta-analyses. Field synopses will offer regularly updated overviews.
The integration of genomics into public health research, policy and practice will be one of the most important future challenges that our health care systems will face. The next decade will provide a window of opportunity to establish infrastructures that will enable the scientific advances to be translated into evidence-based policies and interventions that improve population health. Approaches for national, European and international institutionalization of public health genomics are shown that aim to champion these challenges.
Advances in genetic technology are increasing the availability of genetic tests, not only for rare single gene disorders, but also for common diseases such as breast and colo-rectal cancer. Before there can be widespread uptake of these tests, they must be evaluated to confirm the benefits of their use. But how should genetic tests be evaluated, given the speed at which new tests are emerging? One highly influential approach is the analytic validity, clinical validity, clinical utility and ethical, legal and social issues (ACCE) framework, which has provided a benchmark for the evaluation of genetic tests. The approach has been adopted and adapted by the United Kingdom Genetic Testing Network, with the help of the Public Health Genetics Unit in Cambridge, to evaluate new genetic tests for use in the National Health Service. We discuss a number of conceptual, methodological, and practical issues concerning the evaluation of genetic tests, based on lessons learned from applying the ACCE framework and from the UK experience, and make a number of recommendations to further strengthen the evaluation of genetic tests.
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Pharmacogenetics involves genetic testing of individual patients to guide drug treatment. Proponents argue that pharmacogenetics will achieve major gains in drug safety and efficacy, and revolutionise marketing. Pharmacogenetics also raises several policy concerns, including the need for sound information for clinical decision-making on drug-genetic test combinations. Currently, the pharmacogenetics science base and the rate of emergence of clinical applications are uncertain. Most commentary on pharmacogenetics focuses on new compounds, yet older drugs cause most adverse events. Test regulation in the USA appears fundamentally different from Europe, where evidence of safety or efficacy may not be required. Genetics research is needed as part of post-marketing surveillance systems. In routine clinical practice, computer-based health records with relevant decision support systems will also be needed. Without health policy action, pharmacogenetics could produce a new generation of poorly evaluated tests and drugs, with medicine becoming significantly less evidence-based, leading to rising costs, patient hazard and exclusions of drug-related 'genetic minorities' from evaluated treatments.
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The new genetics is stimulating the development of genetic testing of patients to help choose the best drug, adjust doses and avoid side effects. Proponents say that this personalized medicine will revolutionize drug development and healthcare. In a series of group meetings, 48 leading experts from regulatory agencies, industry, academia and consumer interests gave their opinions on the public policy priorities. Most believed that pharmacogenetics would have a clear impact on care within 15 years and that a public policy response was needed. The establishment of a good clinical evidence base should be a priority, together with addressing the needs of drug response gene minorities. A total of 72% also believed that postmarketing surveillance systems should be collecting DNA from patients experiencing moderate or severe adverse events.
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