Colorectal cancer screening and diagnosis: omics-based technologies for development of a non-invasive blood-based method

ABSTRACT

Introduction: Colorectal cancer (CRC) is one of the most important health problems in the Western world. In order to reduce the burden of the disease, two strategies are proposed: screening and prompt detection in symptomatic patients. Although diagnosis and prevention are mainly based on colonoscopy, fecal hemoglobin detection has been widely implemented as a noninvasive strategy. Various studies aiming to discover blood-based biomarkers have recently emerged.

Areas covered: The burgeoning omics field provides diverse high-throughput approaches for CRC blood-based biomarker discovery. In this review, we appraise the most robust and commonly used technologies within the fields of genomics, transcriptomics, epigenomics, proteomics, and metabolomics, together with their targeted validation approaches. We summarize the transference process from the discovery phase until clinical translation. Finally, we review the best candidate biomarkers and their potential clinical applicability.

Expert opinion: Some available biomarkers are promising, especially in the field of epigenomics: DNA methylation and microRNA. Transference requires the joint collaboration of basic researchers, intellectual property experts, technology transfer officers and clinicians. Blood-based biomarkers will be selected not only based on their diagnostic accuracy and cost but also on their reliability, applicability to clinical analysis laboratories and their acceptance by the population.

KEYWORDS:

• Adenoma
• colorectal cancer
• diagnostic biomarker
• epigenomics
• genomics
• metabolomics
• proteomics
• serrated lesion
• transcriptomics
• transference

Article highlights

• Colorectal cancer (CRC) is the second most frequent cancer in the Western world.

• Blood-based biomarkers are a promising tool to reduce CRC incidence and mortality.

• The large number of biomarkers in preclinical phases predicts transference of some of these tests to clinical practice in a short period.

• Among the options available, the most promising biomarkers are based on DNA methylation and microRNA analysis.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Additional information

Funding

This work has received financial support from the Xunta de Galicia (Centro Singular de Investigación de Galicia accreditation 2019-2022) and the European Union (European Regional Development Fund - ERDF)- Ref. ED431G2019/06. M. Gallardo-Gómez is supported by a predoctoral fellowship from Ministerio de Educación, Cultura y Deporte from the Spanish Government (FPU15/02350). J Cubiella received funding from Instituto de Salud Carlos III through project PI17/00837.