Table 2.

Examples of evidence-based triaging of human genomic applications and integration into public health programs using multilevel interventions

	Evidence-based triaging
	Tier 1	Tier 2	Tier 3
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
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
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
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
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
		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

^awww.egappreviews.org/default.htm

EGAPP, Evaluation of Genomic Applications for Practice and Prevention