Genetic Test Evaluation

understanding how genetic tests impact patient management

The Genetic Test Evaluation program is a compilation of evidence-based assessments of genetic tests that provide clinicians with a clear,
objective view of the science behind genetic tests, the clinical evidence supporting them, and the use of these tests in clinical practice.

View a sampling of our GTE program.

Genetic Testing for Fragile X Syndrome

February 16, 2017 Genetic Test Evaluation

This report evaluates the clinical utility of fragile X syndrome (FXS) genetic testing. The evidence is considered for use of genetic testing to diagnose individuals with suspected disease; carrier testing for women with and without a family history of intellectual disability (ID), developmental delay, autism spectrum disorder (ASD), and FXS; prenatal testing for at-risk pregnancies; and newborn screening. The evidence for use of FXS genetic testing for diagnosis is considered, as well as how the diagnosis impacts testing of family members and the identification of incidental findings as part of the genetic work-up. Carrier screening for FXS is evaluated in...

theraSEEK Sequence Analysis for Functional Disorders (Courtagen Life Sciences Inc.)

February 16, 2017 Genetic Test Evaluation

Functional disorders are a diverse group of conditions that tend to occur in metabolic, neurologic, autonomic, or gastrointestinal systems, involving 1 or more regions of the body. They are associated with problems in function rather than structure, for which physical or pathologic abnormalities are typically not found. Physical symptoms tend to be chronic and can range from headaches to dysmotility of the gastrointestinal tract.. While the underlying cause of a functional disorder may be multifaceted, genetic variants may be associated, especially when there are multiple symptoms. Identifying genetic causal factors in functional disorders can help guide treatment, make decisions, and...

Next-Generation Sequencing (NGS) for Microbial Pathogens in Infection Outbreak Surveillance or Response

February 16, 2017 Genetic Test Evaluation

The morbidity and mortality associated with chronic and acute infections are substantial, and antimicrobial-resistant pathogens are a global threat. Although there are numerous methods that can be used to identify a pathogen and its resistance profile, these methods are often time-consuming, may be inaccurate, and/or fail to provide sufficient information for the clinical management of individual patients or to reduce the public health impact of an outbreak. Next-generation sequencing (NGS) methods may provide an accurate identification of the causative agent(s) of an infection more rapidly than conventional methods, and may direct treatment based on antimicrobial resistance genes of the pathogens....

Next-Generation Sequencing (NGS) for Antimicrobial Resistance Profiling of Pathogens in Infections

February 16, 2017 Genetic Test Evaluation

The morbidity and mortality associated with chronic and acute infections are substantial, and antimicrobial-resistant pathogens are a global threat. Although there are numerous methods that can be used to evaluate the resistance profile of these pathogens, these methods are often time-consuming, may be inaccurate, and/or fail to provide sufficient information for the clinical management of individual patients or to reduce the public health impact of an outbreak. Next-generation sequencing (NGS) methods may provide an accurate identification of the causative agent(s) of an infection more rapidly than conventional methods, and may direct treatment based on antimicrobial resistance genes of the pathogens....

Cell-Free Tumor DNA Testing for EGFR T790M Targeted Mutation in Non-Small Cell Lung Cancer Patients

February 9, 2017 Genetic Test Evaluation

Approximately 222,500 new cases of lung cancer will be diagnosed in the United States in 2017. The estimated 5-year survival rate for patients with non-small cell lung cancer (NSCLC) is 45% for stage IA, 31% for stage IIA, and 5% for stage IIIA. NSCLC treatment has evolved in recent years, largely due to the advances in understanding of the molecular abnormalities that cause cancer development and progression. Specifically, mutations in the EGFR gene are routinely used to guide treatment-making decisions for the selection of first-line EGFR protein tyrosine-kinase inhibitors (TKIs) in NSCLC patients. However, recent estimates suggest patients treated initially...