Epi proColon®: Use of a Non-Invasive SEPT9 Gene Methylation Blood Test for Colorectal Cancer Screening: A National Laboratory Experience

Abstract

The Epi proColon® test is the first and only FDA-approved molecular blood test for colorectal cancer (CRC) screening. The high-sensitivity Real-Time PCR method detects a hypermethylated promoter region of the Septin 9 gene (SEPT9) shown to be associated with colorectal cancer when present in cell-free plasma. Following established protocols for new test assessments, the Epi proColon® test validation results were found to be comparable to the manufacturer’s stated performance characteristics. With familiar PCR methodology and minimal operator to operator variability, the test has been easily integrated into clinical molecular laboratory workflows. To accommodate our standardized process logistics, we validated the substitution of three 4 mL EDTA Vacutainer® collection tubes (Becton Dickinson) for the manufacturer-recommended single 10 mL tube for use in all patient specimen collection centers. By mid-year 2017, 2,238 Epi proColon® tests were ordered by our clinical provider-base for individuals of recommended screening ages 50-74. Positivity rates in this cohort were comparable to published clinical trial rates for the test. For those people who remain resistant to other methods of CRC screening, the availability of a blood test that may be conveniently drawn at a local community collection center may help surmount barriers of nonparticipation. This report summarizes LabCorp’s validation, implementation and clinical experience for on-boarding and offering the Epi-proColon test to healthcare providers and patients.