Diagnostic: association of a genetic marker with a disease/condition in a person with symptoms and family members without symptoms
Sufficient evidence to recommend againstroutine use in adults with idiopathic VTE; and in their adult family members with no history or symptoms of thrombotic events, for medical decision making on preventive use of anticoagulants
Pharmacogenomic: association of a genetic marker with a particular treatment in a person with the specified disease.
Sufficient evidence to recommend clinical use of KRAS mutation analysis to determine which patients are KRAS mutation positive and therefore unlikely to benefit from these agents before initiation of therapy.
Insufficient evidence to recommend for or against BRAF V600E testing for the same clinical scenario.
Insufficient evidence to recommend for or against testing for mutations in NRAS, or PIK3CA, and/or loss of expression of PTEN or AKT proteins.
Association of a genetic marker(s) with T2D risk profiling in general and high risk populations.
*The EGAPP Working Group (EWG) found insufficient evidence to recommend testing for predictive variants in 28 variants (listed in Table 1) to assess risk for Type 2 Diabetes in the general population, based on studies in populations of northernEuropean descent.
*The EGAPP Working Group (EWG) found insufficient evidence to recommend testing for the TCF7L2 gene to assess risk for Type 2 Diabetes in high-risk individuals.
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