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.

myPath Melanoma (Myriad Genetics)

May 14, 2018 Genetic Test Evaluation

This report evaluates the analytical validity, clinical validity, and clinical utility of the myPath Melanoma test (Myriad Genetics) as an adjunct diagnostic tool to distinguish between benign nevi and malignant melanoma when histopathologic results of a patient are not clear.

Pigmented Lesion Assay (PLA)

May 3, 2018 Genetic Test Evaluation

Surgical biopsy followed by histopathologic examination has been the gold standard in the diagnosis of melanoma. However, researchers continue to develope non-invasive molecular tools to improve accuracy of diagnosis of melanoma. In addition, in order to increase uptake of melanoma screening, help reduce patient discomfort and provide another option to an invasive procedure, novel non-invasive skin biopsies have been developed. One such tool is the Pigmented Lesion Assay (PLA), a gene expression assay that is designed to aid in the diagnosis of pigmented skin lesions, noninvasively.

Cxbladder Triage (Pacific Edge, Ltd.)

April 23, 2018 Genetic Test Evaluation

Bladder cancer is the sixth most common cancer in the United States and often presents as hematuria, pain during urination, or frequent urge to urinate. However, these symptoms may be present due to a number of noncancerous conditions. Diagnosis of bladder cancer and other urothelial cancers typically requires an invasive cystoscopy because standard imaging is nonspecific. Therefore, a noninvasive, urine-based test to rule out bladder cancer in conjunction with clinical criteria is of significant interest.  

Cxbladder Detect (Pacific Edge Ltd.)

April 23, 2018 Genetic Test Evaluation

Bladder cancer is the sixth most common cancer in the United States and often presents as hematuria, pain during urination, or frequent urge to urinate. However, these symptoms may be present due to a number of noncancerous conditions. Diagnosis of bladder cancer and other urothelial cancers typically requires an invasive cystoscopy because standard imaging is nonspecific. Therefore, a noninvasive, urine-based test to detect bladder cancer as an adjunct to standard diagnostic methods is of significant interest.  

Retinal Dystrophy Panel (Blueprint Genetics)

March 30, 2018 Genetic Test Evaluation

Retinal dystrophies are a group of genetically and phenotypically diverse disorders that affect the function of the retina. These disorders may be inherited in an X-linked, autosomal dominant, autosomal recessive, or mitochondrial pattern with more than 200 genes identified affecting the pathways and mechanisms of retinal disease. Phenotypes for retinal dystrophies include retinitis pigmentosa, Leber's congenital amaurosis, rod-cone dystrophy, cone or cone-rod dystrophy, Stargardt's macular dystrophy, congenital stationary night blindness, and choroideremia. Research efforts have led to advancements in potential treatments with the availability of trials in genetic and cellular therapy for retinal dystrophies, some of which are variant specific...