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.

EndoPredict (Myriad Genetics)

July 20, 2017 Genetic Test Evaluation

Breast cancer is the most common cancer in American women, with 1 in 8 women developing breast cancer during their lifetime in the United States. It is 1 of the most common forms of cancer, representing 14.6% of all new cancer cases in the United States, with an estimated 246,660 new cases of breast cancer diagnosed in women and 40,450 deaths in 2016. Women most often develop cancer from the ages of 55 to 64 years, with a median age at diagnosis of 62 years. While breast cancer is common, if it is identified early enough (when localized), the 5-year...

The Prostate Health Index for Prebiopsy Triage (Beckman Coulter)

July 20, 2017 Genetic Test Evaluation

In the United States, prostate cancer is the second most commonly diagnosed cancer (after skin cancers) and the third most common cause of cancer-related deaths in men. Approximately 1 in 7 men will be diagnosed with prostate cancer in his lifetime. It is estimated that 161,360 men will be diagnosed with prostate cancer and 26,730 will die of the disease in the United States in 2017. Prostate cancer is more common in older men than younger men and is more likely to occur in men with a family history of prostate cancer and men of African American ancestry. Prostate cancer...

Invitae Aortopathy Comprehensive Panel (Invitae Corp.)

July 13, 2017 Genetic Test Evaluation

A common feature of congenital heart disease is aortopathy, a dysfunction of the aorta. Aortic dilation, a form of aortopathy, is characterized by a weakening and stretching of the aorta, which can lead to a bulge in the blood vessel wall or a tearing in the aorta wall called aortic dissection (GHR, 2017). Aortic dilation can be a presenting feature of hereditary connective tissue disorders, such as Ehlers-Danlos syndrome type IV, Loeys-Dietz syndrome, and Marfan syndrome (Zarate et al., 2016). Familial thoracic aortic aneurysm and dissection (TAAD) is another form of hereditary aortic dilation, in which individuals may demonstrate mild...

BRCAplus (Ambry Genetics)

July 13, 2017 Genetic Test Evaluation

The most common hereditary causes of breast cancer are variants in the breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes. However, at least half of apparently familial breast cancer cases do not have variants in BRCA1 or BRCA2. A large number of other genes have been implicated as contributing to familial cases of breast cancer, with some having a greater contribution than others. Many of these genes have also been associated with other cancers and diseases. Some of these include: cadherin 1, type 1 (CDH1); partner and localizer of BRCA2 (PALB2); phosphatase and tensin homolog (PTEN); and tumor...

ABRx Antibiotic Resistance Panel (Diatherix Laboratories)

June 15, 2017 Genetic Test Evaluation

Antibiotic/antimicrobial resistance is a worldwide problem due to overuse and misuse of antibiotics. The Centers for Disease Control and Prevention (CDC) reports that each year in the United States more than 2 million people become infected with bacteria that are antibiotic resistant and at least 23,000 deaths are a direct result of these infections. Testing for resistance is an important step in choosing the appropriate antibiotic for treatment. There are many screening methods available for antimicrobial resistance, which include both phenotypic and genotypic characterization. Phenotypic prediction is culture-based in vitro testing measuring the growth response of a bacterial isolate in...