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Biomarker Discovery: An Overview

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3 min read


Finding biomarkers that can operate as quantifiable indications of pathological processes within the body is known as biomarker discovery.

Medically reviewed by

Dr. Kaushal Bhavsar

Published At January 18, 2024
Reviewed AtJanuary 18, 2024


Having verified biomarkers to guide clinical decision-making is more crucial than ever in the era of precision medicine. Biomarker applications include monitoring diseases, diagnosis, prognosis, response to intervention prediction, and disease detection. Modern techniques, including mass spectrometry, bioinformatics, and high-throughput sequencing, enable scientists to traverse the huge proteome and genomic landscapes. This article explores the exciting field of biomarker discovery, including the methods, difficulties, and potentially game-changing possibilities associated with identifying and validating these biological markers.

What Are Biomarkers?

A defined characteristic that is measured as an indicator of normal biological processes, pathogenic processes, or biological responses to an exposure or intervention, including therapeutic interventions, is what is meant to be meant by a biological marker. Biomarker applications include risk assessment, illness monitoring, prognosis calculation, screening and detection, diagnosis, and therapy benefit prediction. Biomarker candidates in oncology are frequently biological substances present in cancer cells. Cancer-associated proteins, gene mutations, deletions, rearrangements, and additional copies of genes are the most prevalent biomarkers. Blood-based assays can find some of these molecules since they are occasionally discharged into the bloodstream. Still, others are found in cancer cells and need to be removed by a biopsy to acquire tissue for analysis. The ideal biomarker should meet the following criteria: it should be either binary (i.e., present or absent) or quantifiable without the need for subjective assessments; the assay should be sensitive and specific; the result should be produced promptly (i.e., in a matter of days rather than weeks); and most importantly, the biomarker should be detectable using readily accessible specimens.

What Is Biomarker Discovery?

Finding and analyzing biological markers, or biomarkers, that can operate as quantifiable indications of different physiological or pathological processes within the body is known as "biomarker discovery." These markers may consist of molecules that may be found and examined to reveal details about typical biological processes, the emergence of diseases, or the body's reaction to treatment interventions. Examples of these molecules include proteins, genes, metabolites, and other substances. Finding trustworthy and precise markers that may be applied to various medical applications for prognostic, predictive, or diagnostic purposes is the main objective of biomarker development. Since biomarkers enable doctors to customize patient care based on each patient's biological profile, they are essential to advancing personalized medicine.

The lengthy and challenging process of developing a biomarker from discovery to clinical use can be divided into five phases. Developing technologies to collect pertinent data has accelerated efforts to discover biomarkers. Single-cell Next-Generation Sequencing (NGS), liquid biopsy (blood sample) for circulating tumor DNA (ctDNA), radiomics, microbiomics, and other high-throughput technologies have become increasingly popular recently because of their capacity to generate vast amounts of data rapidly and affordably.

However, there are still a lot of obstacles to overcome before biomarker data is fully captured and used, from high-throughput biomarker data processing to making the most of the electronic health record (EHR) to the end aim of biomarker-driven clinical practice. Biomarker discovery and validation are crucial to establish biomarkers in all applications throughout a disease.

Healthcare will be drastically changed by the discovery of biomarkers, making it possible to identify diseases earlier, provide more precise diagnoses, and create tailored treatments. It's an exciting, multidisciplinary field that will only grow more complex as technology develops and comprehension of the complex molecular processes underlying health and illness expands.

What Is Biomarker Validation?

Confirming that a test, tool, or instrument is functioning appropriately for the intended purpose is known as validation. To set reasonable expectations, resampling techniques like bootstrapping or cross-validation should be used to evaluate the performance of a biomarker in the data used for its development. A biomarker's performance in a fully independent dataset that was not used during creation is verified by external validation; data from several institutions, periods, or geographical areas must be used. There are two types of biomarker validation: analytical and clinical. One important aspect of all validation studies' designs that reduces bias is using specimens obtained prospectively from the target group before learning patient outcomes.

  • Analytical Validation: Following a predetermined methodology, analytical validation determines a biomarker's performance qualities, such as sensitivity, specificity, accuracy, precision, inter-laboratory repeatability, and other pertinent performance characteristics. The statistical analysis techniques described in biomarker discovery are comparable to those employed in analytical validation. Analytical validation aims to prove a biomarker's technical performance (i.e., that it will consistently measure unknown real values) rather than its use.

  • Clinical Validation: Clinical validation aims to prove the biomarker's use and establish a relationship between it and the endpoint of interest. Clinical validation depends on external validation and can be accomplished through prospective clinical studies or the retrospective analysis of clinical trial data. When the biomarker evaluation was not included in the initial research design, retrospective use of clinical trial data is a type of external clinical validation. A prospective clinical trial, a type of external validation, is typically necessary to establish clinical utility or usefulness to show that using the biomarker to direct patient care results in better health outcomes. One instance is the United States Food and Drug Administration's (FDA) first tissue-agnostic approval of Pembrolizumab.


Generating pertinent data using modern technologies has expedited efforts to identify biomarkers. Before being adopted, the identified prospective biomarkers should be regarded as hypothesis generators and validated (analytically and clinically). It takes careful preparation and the cooperation of scientists, statisticians, epidemiologists, and doctors to identify and validate biomarkers. These projects demand interdisciplinary and collaborative approaches to be successful. For biomarker discovery, a coherent and productive group of scientists working together is essential, and these kinds of collaborations are encouraged because they will eventually speed up the transfer of state-of-the-art scientific findings from bench to bedside, improving patient outcomes and care.

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Dr. Kaushal Bhavsar
Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)


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