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Bree holds both a BSc and PhD in Genetics from the University of Liverpool. After completing her studies, she spent two years as a science writer at an agency. Eager to broaden her expertise, she joined Technology Networks as a science writer in 2024. In her current role, she is responsible for producing custom written content and contributing to the development of digital media.
Biomarkers are essential tools in modern diagnostics and treatment, revealing insights into biological processes, disease progression and therapeutic outcomes. As healthcare becomes increasingly personalized, the demand for accurate, actionable biomarkers continues to grow.
Biomarker discovery depends on a diverse array of technologies, each offering complementary views into molecular activity, genetic predisposition and biochemical pathways.
This infographic explores key methods for identifying biomarkers in addition to highlighting the growing role of AI and machine learning in managing complex datasets and accelerating meaningful insights.
Download this infographic to explore:
The complete biomarker discovery pipeline, from sample collection to regulatory approval
The seven major biomarker categories and their medical applications
Why the growing complexity of datasets demands the integration of AI for effective analysis
The Science
and Future
of Biomarker
Discovery
Biomarkers are measurable
indicators of biological processes,
offering insights into normal
physiology, disease progression
and treatment responses. Found
in body tissues or fluids, they help
identify deviations from normal
function and provide critical data
for diagnosing conditions and
monitoring therapeutic outcomes.1
Biomarkers can be:
By Bree Foster, PhD | Design by Erin Lemieux
Whether used individually or in
combination, biomarkers provide
a deeper understanding of disease
mechanisms, guiding more effective
and personalized healthcare strategies.
In this infographic, we will explore
methods for discovering biomarkers,
their applications and their increasing
importance for personalized healthcare.
and more!
Specific cells Enzymes Genes
Lipids Hormones Carbohydrates
The ideal
biomarker is...2
Quantifiable and
reproducible
Consistent
across genders
and ethnicities
Easily and
quickly quantified
Chemically stable
during analysis
and storage
For example, a historical biomarker for
diabetes was the presence of sugar in urine.
As early as the 5th century BC, the Indian
surgeon Sushruta described “madhumeha”
(honey-like urine), noting its sweetness,
sticky texture and tendency to attract ants.
As a result, historical physicians often tasted
urine to diagnose diabetes!3
Fortunately, modern diagnostics now use precise
blood assays rather than sensory observations!
Non-invasive
Highly sensitive
and specific
How are biomarkers used? Based on their use, biomarkers can be divided into seven categories4:
Diagnosis
Enable early disease detection, often before
symptoms appear, allowing for timely
intervention and improved patient outcomes.
Prognosis
Predict how a disease will progress, helping
doctors make informed decisions about
treatment plans and follow-up care.
Monitoring
Track disease status or therapeutic effects over
time, guiding clinical decisions such as adjusting
medications and identifying complications.
Risk Assessment
Identify individuals at high risk for conditions
like heart disease and cancer, enabling
proactive prevention and targeted screening.
Pharmacodynamic
Measure the body’s immediate response to a
medical product or environmental exposure, aiding
in drug efficacy assessment and dose selection.
Safety
Detect the likelihood, presence or extent
of toxicity from a medical intervention or
environmental exposure, ensuring patient safety.
Predictive
Determine which patients are most likely to
respond to specific treatments, ensuring
personalized and more effective therapies.
The Future of Biomarker Discovery
All of these high-throughput approaches
have one thing in common. They produce
heaps of data.
Metabolomics analyzes small
molecules to provide insights into
biochemical pathways linked
to disease, drug response or
environmental exposure.7
Genomics explores genetic variations
to identify biomarkers associated with
diseases and can be useful in determining
the genetic predisposition to disease.5
Identify the disease or
condition of interest
Biomarker discovery is a multi-step
process that involves identifying
biological molecules that indicate
normal or pathological conditions.
The process typically includes
the following stages:
Define the
biomarker type
Collect clinical samples
Proteomics investigates
protein structure, function and
interactions to identify diseaserelated
biomarkers.6
Data analysis
In vitro and in vivo validation
Regulatory approval!
References
1. Ahmad A, Imran M, Ahsan H. Biomarkers as Biomedical Bioindicators: Approaches and Techniques for the Detection, Analysis, and Validation of Novel Biomarkers of Diseases.
Pharm. 2023;15(6):1630. doi:10.3390/pharmaceutics15061630
2. Ou FS, Michiels S, Shyr Y, Adjei AA, Oberg AL. Biomarker Discovery and Validation: Statistical Considerations. J. Thorac. Oncol. 2021;16(4):537-545. doi:10.1016/j.jtho.2021.01.1616
3. Eknoyan G, Nagy J. A history of diabetes mellitus or how a disease of the kidneys evolved into a kidney disease. AKDH. 2005;12(2):223-229. doi:10.1053/j.ackd.2005.01.002
4. Califf RM. Biomarker definitions and their applications. Exp Biol Med (Maywood). 2018;243(3):213-221. doi:10.1177/1535370217750088
5. Nguyen LV, Caldas C. Functional genomics approaches to improve pre-clinical drug screening and biomarker discovery. EMBO Mol. Med. 2021;13(9):e13189. doi:10.15252/
emmm.202013189
6. Al-Amrani S, Al-Jabri Z, Al-Zaabi A, Alshekaili J, Al-Khabori M. Proteomics: Concepts and applications in human medicine. World J Biol Chem. 2021;12(5):57-69. doi:10.4331/wjbc.
v12.i5.57
7. Qiu S, Cai Y, Yao H, et al. Small molecule metabolites: discovery of biomarkers and therapeutic targets. Sig Transduct Target Ther. 2023;8(1):1-37. doi:10.1038/s41392-023-01399-3
8. Mann M, Kumar C, Zeng WF, Strauss MT. Artificial intelligence for proteomics and biomarker discovery. Cell Syst. 2021;12(8):759-770. doi:10.1016/j.cels.2021.06.006
Many researchers and clinicians are now turning to artificial
intelligence (AI) and machine learning (ML) to make sense of
these vast datasets.8 These technologies can uncover patterns
and correlations that may be imperceptible to human analysis,
accelerating discovery and enabling earlier diagnoses, more
precise treatments and better patient outcomes.
How to discover biomarkers 1
2
4
7
3
Perform
high-throughput
analysis to discover
novel biomarkers:
6
5
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