Table 2.
Evidence-based triaging
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Tier 1
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Tier 2
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Tier 3
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Genomic application | Evidence-based recommendation for implementation | Established validity/promising utility | Unclear benefits and harm; or evidence recommendation against use |
Examples | Lynch syndrome | Family history for risk assessment in primary care | Personal genomic tests sold directly to consumers |
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Public health issues | 3%–5% of all cases of colorectal cancer are due to this genetic disorder. Cancer has early age of onset | Family history is a risk factor for common chronic diseases. It can be used to target public health messages (diet, physical activity, screening) | Several companies selling to the public personal genomic test to inform consumers about risks for common diseases |
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Evidence recommendation | EGAPP working group recommended in 2009 that all new cases of colorectal cancer be screened for Lynch syndrome. Cascade testing of relatives can reduce mortality from colorectal cancer39 | NIH conference in 2009 concluded that while “Family history interventions can motivate behavior change, the data are not sufficiently robust to conclude that routine family history can lead to improved health outcomes”a | CDC–NIH conference in 2009 concluded that there is insufficient evidence on clinical validity and utility of these tests13 |
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Public health actions | Promote implementation in practice by educating providers and patients; setting screening programs, and developing clinical decision support tools; encourage coverage evidence recommendations by health insurance | Provide information for decision making about family history as disease risk factor; educating providers and consumers | Discourage use in practice by educating consumers, providers, and policymakers |
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Public health surveillance and epidemiology | Measure impact of actions on implementation and outcomes | Measure impact of information on use and outcomes | Measure impact of discouraging implementation on use and outcomes |
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Assess added value in public health interventions that do not use genomics to inform future public health actions | Assess added value in public health interventions that do not use genomics to inform future public health actions |
EGAPP, Evaluation of Genomic Applications for Practice and Prevention