Genomics|Genetic Testing|Tier 1-3
Genetic Testing
Genomic Tests by Levels of Evidence
The
CDC Office of Public Health Genomics provides the following list of genomic tests and applications in practice according to three levels of evidence based on the paper by
Khoury et al
. This list is provided only for informational purposes to researchers, providers, public health programs and others. For additional information on this list,
read our accompanying blog.
Tier 1 genomic applications are recommended for clinical use by evidence-based panels based on a systematic review of analytic validity, clinical validity and utility for specific clinical scenarios
Tier 2 genomic applications have demonstrated analytic and clinical validity; hold promise for clinical utility but evidence-based panels have not examined their use or found insufficient evidence for their use. Such applications may provide information for informed decision making by providers and patients
Tier 3 genomic applications have not demonstrated adequate analytic validity, clinical validity, or clinical utility. This also includes applications for which evidence-based panels have recommended against their use based on the synthesis of the balance of benefits and harms. Such applications are not ready for routine practice, but may be considered in clinical and population research.
Test/Application | Scenario | Evidence-based recommendation |
Genetic risk factors for common diseases | Risk assessment and disease prevention | Multiple panels have recommended against use of genetic risk factors testing. EGAPP made specific recommendations against testing for factor V Leiden and cardiogenomic profiles |
Emerging genomic tests found in the CDC's GAPP Finder of the GAPP Knowledge Base | More than 400 genomic tests for various intended uses captured through horizon scanning | Almost all of these applications (except when listed above) have insufficient information on analytic or clinical validity, or clinical utility |
Next Generation Sequencing/ Whole Genome Sequence | Emerging tools to help with diagnosis of rare familial diseases and provide information for assessing risk for common diseases | Rapidly evolving landscape; gaps in knowledge exist for analytic validity, clinical validity and clinical utility |
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