EGAPP Working Group Recommendations

EGAPP Recommendations by disease/conditions, gene test and test use
Disease/Condition	Genetic Test/Purpose	Test Use	EGAPP™ Recommendation
Breast Cancer:	Can tumor gene expression profiling improve outcomes in patients with breast cancer?	Prognostic: association of genetic markers with disease severity, progression	Insufficient evidence to recommend for or against use Read the EGAPP recommendation (January 2009)
	Does the use of Oncotype DX tumor gene expression profiling to guide treatment decisions improve outcomes in patients with breast cancer?	Prognostic: association of genetic markers with disease severity, progression	Insufficient evidence to recommend for or against use Read the EGAPP recommendation (December 2015)
Cardiovascular Disease:	Recommendations from the EGAPP Working Group: Genomic profiling to assess cardiovascular risk to improve cardiovascular health	Prediction: association of genetic markers with disease risk	Insufficient evidence to recommend for or against use Read the EGAPP recommendation (December 2010)
	Genetic testing for Factor V Leiden and prothrombin variants for idiopathic venous thromboembolism (VTE)	Diagnostic: association of a genetic marker with a disease/condition in a person with symptoms and family members without symptoms	Sufficient evidence to recommend against routine 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 Read the EGAPP recommendation (January 2011)
Colorectal Cancer:	Can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?	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. Read the EGAPP recommendation (February 2013)
	Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives	Diagnostic: association of a genetic marker with a disease/condition in a person with symptoms	Sufficient evidence to recommend use for the benefit of relatives Read the EGAPP recommendation (January 2009)
	Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer?	Pharmacogenomic: predicting response to drug treatment	Insufficient evidence to recommend for or against use Read the EGAPP recommendation (January 2009)
Depression:	Testing for cytochrome P450 polymorphisms in adults with nonpsychotic depression treated with selective serotonin reuptake inhibitors	Pharmacogenomic: predicting response to drug treatment	Insufficient evidence to recommend for or against use, but use discouraged pending further research Read the EGAPP recommendation (December 2007)
Diabetes:	Does genomic profiling to assess Type 2 Diabetes (T2D) risk improve health outcomes?	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 northern European 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. Read the EGAPP recommendation (March 2013)
Prostate Cancer:	Does PCA3 Testing for the Diagnosis and Management of Prostate Cancer improve patient health outcomes?	Diagnostic and Prognostic: association of genetic markers with disease severity, progression	Insufficient evidence to recommend for or against use Read the EGAPP recommendation (September 2013)