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Genetic Testing

CDC Summaries of EGAPP™ Recommendation Statements

Since 2007, the independent, non-federal Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working Group has released six recommendations on the validity and utility of specific genetic tests for individuals diagnosed with breast cancer, colorectal cancer, or depression as well as genetic tests for cardiovascular risk and thrombophilia. The EGAPP Working Group developed these recommendation statements based on the available scientific evidence for these genetic tests, which was collected, analyzed, and graded using specific EGAPP™ methods.

CDC's Office of Public Health Genomics (OPHG) established the EGAPP™ Initiative in 2004, and the EGAPP™ Working Group in 2005. OPHG provides brief summaries of the EGAPP recommendation statements which can be used by health care providers, public health practitioners, policy makers and the general public. For example, health care professionals can use this information to make evidence-based decisions about using specific genetic tests in clinical settings with their patients. This information can also help individuals understand what the EGAPP recommendations mean for them and where to find more information.



Disease/
Condition

Genetic Test/Purpose Test Use EGAPP™ Recommendation
Breast Cancer:

Tumor gene expression profiling to predict risk of breast cancer recurrence

CDC Summary

Prognostic: association of genetic markers with disease severity, progression

Insufficient evidence to recommend for or against use

Read the EGAPP recommendation [PDF 455 KB] (January 2009)

Cardiovascular Disease:

Cardiogenomic profiling to determine risk of developing heart attack or stroke

CDC Summary
Prognostic: 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)

CDC Summary
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:

Genetic testing for Lynch syndrome

CDC Summary

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 [PDF 220 KB] (January 2009)

 

UGT1A1 genotyping to predict response to Irinotecan chemotherapy

CDC Summary

Pharmacogenomic: predicting response to drug treatment

Insufficient evidence to recommend for or against use

Read the EGAPP recommendation [PDF 201 KB] (January 2009)

Depression:

CYP450 genotyping to predict response to Selective Serotonin Reuptake Inhibitors (SSRIs)

CDC Summary

Pharmacogenomic: predicting response to drug treatment

Insufficient evidence to recommend for or against use, but use discouraged pending further research

Read the EGAPP recommendation [PDF 225 KB] (December 2007)


 

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