Universal screening test based on analysis of circulating organ-enriched microRNAs: a novel approach to diagnostic screening

Abstract

Early disease detection leads to more effective and cost-efficient treatment. It is especially important for cancer and neurodegenerative diseases, because progression of these pathologies leads to significant and frequently irreversible changes in underlying pathophysiological processes. At the same time, the development of specific screening tests for detection of each of the hundreds of human pathologies in asymptomatic stage may be impractical. Here, we discuss a recently proposed concept: the development of minimally invasive Universal Screening Test (UST) based on analysis of organ-enriched microRNAs in plasma and other bodily fluids. The UST is designed to detect the presence of a pathology in particular organ systems, organs, tissues or cell types without diagnosing a specific disease. Once the pathology is detected, more specific, and if necessary invasive and expensive, tests can be administered to precisely define the nature of the disease. Here, we discuss recent studies and analyze the data supporting the UST approach.

Keywords:

• Alzheimer’s
• cancer
• circulating organ-enriched miRNA
• inflammation
• neurodegenerative disease
• Parkinson’s
• screening test

Financial & competing interests disclosure

This work was supported by DiamiR LLC. The authors have no other 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 apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Key issues

• Early disease detection is crucial for effective treatment of neurodegenerative diseases, cancer and other pathologies.

• Development and clinical implementation of specific tests for primary screening of numerous human diseases is impractical and expensive.

• A novel approach to screening, which may result in a paradigm shift in molecular diagnostics, is proposed: development of Universal Screening Test (UST), which will detect the presence of the pathology in a particular organ or organ system, rather than diagnose specific diseases.

• Concept of UST development based on analysis of organ-/tissue-/cell-enriched miRNA biomarker pairs in the blood is presented.

• Proof-of-principle studies on detection of pathologies of three organ systems (gastrointestinal, pulmonary and neurological), four cancers (esophageal, gastric, colon and non-small cell lung cancer), three neurodegenerative pathologies (mild cognitive impairment, Alzheimer’s and Parkinson’s diseases) and three inflammatory diseases (pneumonia, asthma and Crohn’s disease) as well as literature analysis support the feasibility of UST approach.

• Potential applications, future studies for accelerated UST development and step-by-step implementation are discussed.