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.
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This report evaluates the analytical validity, clinical validity, and clinical utility of the Oncotype DX Colon Recurrence Score test, a gene expression assay intended to quantify the risk of disease recurrence in patients with anatomic stage II, mismatch repair proficient (MMR-P) or stage III A/B colon cancer.
Colorectal cancer (CRC) is a major cause of cancer-associated morbidity and mortality in both men and women worldwide. In 2018, it is estimated that approximately 140,250 men and women in the United States will be diagnosed with colorectal cancer and 50,630 people will die from the disease. CRC is the second leading cause of cancer death in the United States. Prognosis relates to the stage of CRC, with the majority of individuals eligible for resection of their tumor. Approximately 30% to 50% of individuals with primary colorectal tumors will have a recurrence of their cancer following surgery. Surveillance is necessary,...
At present, the estimated 5-year survival rate for bladder cancer is 77.3%. The high survival rate can be attributed to early detection and the high incidence of non–muscle-invasive papillary tumors that have more favorable outcomes than invasive tumors. Although the overall survival rate is high, disease recurrence is common, with invasive and costly surveillance protocols required for monitoring potential relapse. The development of adjunct noninvasive urine-based biomarker tests to assess disease recurrence offers a less invasive approach to bladder cancer recurrence surveillance.
Cell-Free DNA (cfDNA) [Formerly NIPS, NIPT] Screening for Fetal Trisomy 21, 18, and 13 in High-Risk WomenFebruary 16, 2018 Genetic Test Evaluation
This report evaluates the clinical utility for use of cell-free DNA (cfDNA) screening for fetal trisomy 21, 18, and 13 in high-risk women with singleton or multiple gestation pregnancies. Populations at high risk for aneuploidy include women with advanced maternal age; parental Robertsonian translocation involving chromosome 21 or 13; a previous pregnancy with a trisomy; ultrasound findings associated with an increased risk for trisomy 21, 18, or 13; and/or a positive alternate aneuploidy screening test.
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. Biomarker analysis for risk stratification assessments for ovarian cancer, specifically adnexal masses, aims to increase early diagnosis and subsequent benefit from early intervention.