Non-invasive tests contribute to the improved poor adherence to colorectal cancer screening programs.
Colorectal cancer (CRC) is the second leading cause of death in developed countries, representing 880,792 deaths last year (1). It was only surpassed by lung cancer in men and breast cancer in women. Studies show that CRC incidence and mortality rates have grown exponentially worldwide, with an estimated increase of 60% by 2030 (2). One in 20 people is estimated to have colon or rectal cancer during their lifetime (3). Most cases are diagnosed between 65 and 75 years of age, nonetheless, there have been cases at the age of 35 years, usually associated with genetic predisposition.
CRC screening and prevention are important factors to be consider for this cancer that can be prevented in 90% of the cases. Despite the severity of the disease, early detection of colorectal cancer can enable effective treatment for most patients. CRC screening programs are already available for men and women aged 50 years or older, who have no symptoms or other risk factors. However, due to possible discomfort and pain caused by available tests, such as colonoscopy, fecal screening and sigmoidoscopy, the acceptance and active participation of the population is still significantly low. Thus, the early diagnosis is not always possible.
The progressive increase in CRC incidence and mortality clearly shows that the use of non-invasive methods that promote an increased adherence of the population to screening programs is a valuable measure in the early detection, in the CRC premalignant stage. A study with German patients revealed that 109 (63.4%) individuals out of a group of 172 people refused to perform colonoscopy for CRC screening. However, 82.6% (90/109) agreed to perform blood screening, and 100% of those who tested positive decided to perform colonoscopy (4). Therefore, blood test cannot be considered an alternative to traditional methods such as colonoscopy. It actually the non invasive tests works as an inducer to the conventional diagnostic testing – patients with a positive blood test are convinced to perform colonoscopy and similar testing.
The option for a non-invasive test, performed from a single blood sample, for the CRC diagnosis and screening is already a reality. This is possible because the analysis of epigenetic biomarkers such as gene methylation has become an important support in the diagnostic approach. Methylation is an important mechanism of gene expression regulation. Different methylation patterns of tumor suppressor genes are observed in many cancers, including CRC. The methylated septin 9 gene (mSEPT9) has extremely high levels of methylation in colorectal tumor tissues and has been used as a high sensitivity marker for early detection of CRC (5). The protein encoded by the SEPT9 gene belongs to a family of proteins involved in regulating cell division. Methylation of SEPT9 decreases the expression of this protein, which is related to the development of colorectal cancer.
Always seeking to offer innovative alternatives in the field of genetic diagnosis, SYNLAB has developed the Septina9 test, a non-invasive test that early detects the colorectal cancer from a single blood sample. The analysis aims to detect the methylated SEPT9 gene that is released into the bloodstream from the tumor.
Septina9 test is the first and only non-invasive test approved by FDA that help in the early detection of colon cancer. The test is an excellent choice, especially for those who refuse to perform the CRC screening, as the analysis is used as a screening method for colonoscopy indication, which remains being the diagnostic method for colon cancer detection and should be performed as follow-up of people with a personal and/or family history of the disease. If the result of the Septina9 test is negative, it is recommended to repeat the test according to the medical guidelines, while a positive result is an strong indicative that the patient should perform a colonoscopy. As this is a non-invasive test, it can be easily repeated once or twice a year, avoiding tests that generate discomfort. Thus, this test is an important inducer to increase people’s participation in colorectal cancer screening programs.
SYNLAB offers a full range of medical laboratory services for practising doctors, clinics and the pharmaceutical industry. The SYNLAB Group is the uncontested leader on the European market for human medicine laboratory services.
1. Global Cancer Observatory – Cancer Today – https://gco.iarc.fr/ <Accessed on 7/25/2019>
2. Arnold, M. et al. Global patterns and trends in colorectal cancer incidence and mortality. Gut 66, 683–691, https://doi.org/10.1136/ gutjnl-2015-310912 (2017).
3. Surveillance, Epidemiology, and End Results Program. Cancer Stat Fact Sheets. [April 29, 2015]. Available at: http:/ /seer.cancer.gov/.
4. Adler, A. et al. Improving compliance to colorectal cancer screening using blood and stool-based tests in patients refusing screening colonoscopy in Germany. BMC gastroenterology 14, 183, https://doi.org/10.1186/1471-230x-14-183 (2014).
5. Ma, Z.Y. et al. Methylated Septin 9 and Carcinoembryonic Antigen for Serological Diagnosis and Monitoring of Patients with Colorectal Cancer After Surgery. Scientific Reports, Natura, 17;9(1):10326 – https://doi: 10.1038/s41598-019-46876-4 (2019).
SOCIEDADE AMERICANA DE CÂNCER. Câncer colorretal pode ser prevenido? Available at: https://www.cancer.org/ Accessed on July 2019