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.

Pharmacogenomic Testing for Selected Psychiatric and Behavioral Conditions

May 18, 2017 Genetic Test Evaluation

This report examines the clinical utility of pharmacogenomic testing to inform the selection or dose of medications for individuals diagnosed with depression, mood disorders, psychosis, anxiety, attention-deficit/hyperactivity disorder, or substance use disorder. First, evidence is evaluated to determine whether pharmacogenomic test results change decisions regarding the drug or dose selected by physicians compared with usual care/no genetic testing. Then evidence is assessed as to whether those test-guided decisions result in clinically meaningful improvement in patient response to treatment, or reduction in adverse events as a result of treatment, compared with decisions based on usual care/no genetic testing.

Health + Ancestry (23andMe)

April 27, 2017 Genetic Test Evaluation

Genetics and personalized medicine have been revolutionized by the advent of new sequencing technologies over the past 2 decades. Prior to the advent of these new sequencing technologies, genetic testing was only available through healthcare providers, with medical professionals overseeing sample collection, ordering of genetic testing, and dissemination of test results to patients. Recently, direct-to-consumer genetic testing, also known as at-home genetic testing, has enabled consumers to access genetic information without necessarily involving medical professionals in the process. While direct-to-consumer genetic testing has been previously limited to ancestral or nondisease-based traits, such as hair color or taste preferences, the Food...

Overa (ASPiRA Labs)

April 20, 2017 Genetic Test Evaluation

Ovarian cancer is a relatively common disease, with an estimated 22,280 new cases diagnosed in 2016, accounting for approximately 1.3% of all new cancer cases in the United States in 2016. Ovarian cancer can initially present as adnexal masses, pelvic tissue masses that are structurally and functionally related to uterine tissue, ovarian tissue, or the fallopian tubes. The differential diagnosis of an adnexal mass is complex because most adnexal masses are benign. However, without histopathologic tissue diagnosis, a definitive benign diagnosis cannot be achieved. Clinical and radiologic information is standardly used in the evaluation of adnexal masses, with surgical intervention...

Focal and Segmental Glomerulosclerosis (FSGS) Evaluation (Athena Diagnostics)

April 13, 2017 Genetic Test Evaluation

Focal segmental glomerulosclerosis (FSGS) is a histological lesion caused by glomerular injury primarily affecting the podocytes (cells in the Bowman’s capsule in the kidneys) and is characterized by the presence of sclerosis in parts (segmental) of some (focal) glomeruli. FSGS is a common cause of adult and pediatric nephrotic syndrome. It has an incidence of 7 per million. In the United States, FSGS is the most common primary glomerular disease resulting in end-stage renal disease. The most common presenting feature is proteinuria. It is common in patients with primary FSGS to have the full nephrotic syndrome with hypertension, microscopic hematuria,...

Ovarian Cancer Focus Panel (Fulgent Genetics)

April 13, 2017 Genetic Test Evaluation

The majority of ovarian cancer cases occur sporadically (i.e., in the absence of a family history), but it is estimated that 20% to 25% of cases are caused by hereditary gene variants. The most common hereditary causes of ovarian cancer are associated with variants in the BRCA1 and BRCA2 genes. However, there are a number of familial ovarian cancer cases that do not have variants in BRCA1 or BRCA2. Other genes implicated as contributors to familial ovarian cancer each have a relatively modest contribution. Some of these genes may be associated with other cancers and diseases. Many laboratories have developed...