Genomic Tests and Family History by Levels of Evidence

As evidence accumulates on the use of genomic tests and other health-related applications of genomic technologies, decision makers may increasingly seek support in identifying which applications have sufficiently robust evidence to suggest they might be considered for action. As an interim working process to provide such support, a horizon-scanning method was developed that assigns genomic applications to tiers defined by availability of synthesized evidence.

The CDC Office of Public Health Genomics ranks the following list for levels of evidence of genomic tests and family health history in practice. This approach was based on a paper by Khoury and updated in accordance with criteria presented by a 2014 paper in Clinical Pharmacology and Therapeutics. The criteria are shown in the following figure to provide additional information to our readers.This list is updated on an ongoing basis and provided only for informational purposes to researchers, healthcare providers, public health programs and others.

An illustrative application of the method to pharmacogenomics tests is available here:

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