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.

FoundationOneHeme (Foundation Medicine Inc.)

January 18, 2018 Genetic Test Evaluation

Molecular diagnostic testing for hematologic malignancies and sarcomas currently involves the use of multiple assays, each designed to detect a specific type of genomic alteration. The detection of these alterations may help with determining prognosis or driving treatment. It has been suggested that a comprehensive test that simultaneously assesses for these different types of genomic alterations may enhance diagnostic capabilities and offer increased opportunities for targeted therapy. This report reviews 1 such test, the FoundationOneHeme test.


December 21, 2017 Genetic Test Evaluation

In 2014, 76,665 Americans were diagnosed with melanoma of the skin and 9324 died from complications of their melanomas. The staging of melanoma is important to predict risk of recurrence and guide surveillance and treatment. Current guidelines for staging include evaluating: tumor thickness, ulceration, mitotic rate, regional lymph node status, metastasis, and lactate dehydrogenase level. Staging parameters provide some information of value in disease management, but there is wide variability in rates of metastasis even for cancers of the same stage. The development of tools that may provide more accurate information regarding metastasis risk is, therefore, an area of active...

OVA1 (ASPiRA Labs)

December 19, 2017 Genetic Test Evaluation

At present, the overall estimated 5-year survival rate for ovarian cancer is 46.5%. Early identification does impact prognosis; however, the majority of ovarian cancer patients are diagnosed with advanced-stage disease, where survival rates are low. The relative 5-year survival rate for localized ovarian cancer is 92.5%, whereas for regional cancer with lymph node involvement the rate decreases to 73.0%. Metastatic ovarian cancer has a 5-year relative survival of only 28.9%, underscoring the importance of an early diagnosis. To this end, biomarker analysis to assess adnexal masses, specifically for ovarian cancer, aims to increase early diagnosis of disease. The OVA1 test...

Genetic Testing for Familial Hemiplegic Migraine (FHM)

December 12, 2017 Genetic Test Evaluation

This report evaluates the clinical utility of genetic testing for familial hemiplegic migraine (FHM) in symptomatic individuals who meet clinical diagnostic criteria for FHM and for asymptomatic family members who have a relative with FHM and a known pathogenic variant.

AlloSure (CareDx)

December 7, 2017 Genetic Test Evaluation

The reference standard for diagnosis of renal allograft rejection is needle biopsy, but it is not typically used to monitor for rejection due to risk of complications, patient discomfort, and cost. Rejection results from injury to the allograft and cell death, which are correlated with elevated plasma levels of donor-derived cell-free DNA (dd-cfDNA). Current methods used to monitor for renal transplant rejection are indirect measures of renal function that are not specific to transplant rejection. Tests that measure dd-cfDNA may offer a noninvasive, more sensitive, and specific assessment of allograft rejection that is safer and can be performed at more...