Diffusion and Use of Genomic Innovations in Health and Medicine Workshop Summary (2008) / Chapter Skim
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5 Opportunities and Constraints for Translation of Genomic Innovations
5 Opportunities and Constraints for Translation of Genomic Innovations
Pages 65-80
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From page 65... ...
In the case of cystic fibrosis, for example, the development of robust, reliable test kits was just as important as the initial identification of the mutations in the cystic fibrosis transmembrane conductance regulator gene. One must also think about the importance of the diffusion and use of genomic innovations.
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From page 66... ...
Other work in the area includes a project on information policy for pharmacogenetics and two reports for the Canadian government, one on regulating pharmacogenomics and another on the clinical application of molecular diagnostic technologies. Genomic innovation transcends national boundaries.
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From page 67... ...
In the United Kingdom there is also the Clinical Research Collaboration, which is attempting to bring together key groups such as NICE, the National Health Service regulatory bodies, medical researchers, industry, and patients in order to create a new system of health care innovation. Some of these initiatives involve new models of evaluation, while others involve new strategies for assisting the development of the evidence base for a new technology by providing either incentives (for instance, through conditional reimbursement)
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From page 68... ...
The FDA's Critical Path Initiative and EMEA's Roadmap both see pharmacogenomics at the heart of a broader agenda for the enhanced use of novel biomarkers in drug development, diagnosis, and screening and the review of existing clinical trial design and statistical tools for drug evaluation. This agenda represents a shift in the role of regulatory agencies from guardians of public safety to a wider public health mission as supporters of translational medicine.
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From page 69... ...
Australia has issued some guidance concerning nutrigenetic tests. Elsewhere, Canada has provided some guidance on pharmacogenetic tests.
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From page 70... ...
The problem is summed up by the industry maxim, "It's hard to be first." There are a number of disruptive new business models appearing among companies that develop and market medical tests, and there is some evidence that the emerging field of molecular diagnostics has disrupted the traditional model in a number of ways. A number of companies have appeared that are developing genetic tests based on patent protection of the gene and its association with disease.
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From page 71... ...
So IP has become an important incentive for funding clinical studies for new molecular diagnostics, and this new model can help to address oversight concerns about the lack of clinical data to support novel tests by offering clear incentives to generate that data. There are concerns about this business model, however.
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From page 72... ...
Companies are greatly concerned about this issue, not just in the United States but also in Europe. Reimbursement is a very powerful gatekeeper and has been the de facto regulator of genetic tests since payers frequently set stricter evidence standards than those established by licensing authorities.
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From page 73... ...
For example, there is broader availability of pharmacogenomic testing for some commonly used drugs. The FDA has issued guidance about maximizing translation of pharmacogenomics from the bench to the bedside, including requirements to submit pharmacogenomic data alone and in combination with tests and treatments. The Critical Path Initiative, which is intended to address the pipeline problem of getting pharmacogenomics to the bedside, is playing a role as well, and there are concerns about adverse drug reactions of these new technologies.
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From page 74... ...
One also needs to know TABLE 5-1 Data for Cost-of-Illness of Pharmacogenomics Example HER-2 and Relevant Data Description Trastuzumab Prevalence of condition for Size of the population for Prevalence of patients with drug treatment testing metastatic BC Mutation prevalence Size of the population in which 20–30% of BC patients testing could impact outcome overexpress HER-2 Utilization Extent to which testing will be Test costs $100 to $400 undertaken Drug expenditures Testing could change drug Annual cost of treatment utilization ~$30 to $80K Condition expenditures Measure clinical outcomes of 25% increase in median testing on condition survival SOURCE: Adapted from Phillips and Van Bebber, 2005.
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From page 75... ...
A favorable cost-effectiveness ratio is also more likely if there is a very strong association between the TABLE 5-2 Criteria for Cost-Effectiveness of Pharmacogenomics Characteristics Favoring Factors Cost-Effectiveness Prevalence of mutation Variant allele frequency is relatively high Severity of disease and outcomes avoided Severe outcome, high mortality, significant impact on quality of life, or expensive medical care costs Drug monitoring Monitoring of drug response currently not practiced or difficult Gene and outcome association Strong association between gene variant and clinically relevant outcomes Test performance and cost A rapid and relatively inexpensive, but accurate test is available SOURCE: Veenstra et al., 2000, and Phillips et al., 2004.
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From page 76... ...
However, as discussed earlier, data and evidence of effectiveness are lacking. There is an ongoing debate about whether observational data can provide sufficient evidence of clinical utility, but not all genetic tests can be put through randomized controlled trials.
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From page 77... ...
A second challenge to assessing value is that there are very few economic models for pharmacogenomics. It is important to conduct economic modeling in order to understand the downstream consequences of the pharmacogenomic testing-treatment paradigm.
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From page 78... ...
There are many promising new technologies, but a key aspect of success in the long run will be the ability to demonstrate value to payers, providers, and patients. There are multiple challenges, but building the evidence base that captures the health burden, utilization, clinical utility, and coste ffectiveness of pharmacogenomics will be critical, Marshall concluded.
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From page 79... ...
For consumer genetics (or direct-toconsumer genetics) , which has increased significantly, clinical geneticists and research scientists in the United Kingdom think that translation into practice is premature.
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