Genetic Test Evaluation

understanding how genetic tests impact patient management

Epi proColon (Epigenomics Inc.)

June 23, 2016

Colorectal cancer (CRC) is one of the leading causes of cancer-related deaths in the United States. It is estimated that approximately 134,000 individuals will be diagnosed with CRC in 2016, and approximately 49,000 people will die from the disease. It is established that screening for CRC allows for the early detection and removal of cancers or precancerous polyps, resulting in improved overall survival. However, since not all polyps have the potential for malignancy, appropriate management of some types of polyps is controversial. There are multiple screening approaches that may include colonoscopy, sigmoidoscopy, fecal immunochemical test (FIT), and/or a high-sensitivity fecal occult blood test (FOBT). However, it is estimated that approximately half of Americans ≥ 50 years old do not adhere to the current screening recommendations. Because of poor compliance, recent studies have focused on the development of screening tools that may be considered more acceptable to eligible individuals who are not being screened. One recently developed blood based screening test capitalizes on the fact that epigenetic changes contribute to the pathogenesis of CRC. The focus of this report is on the Food and Drug Administration (FDA)-approved Epi proColon test which is a blood-based methylation SEPT9 assay.