Biomarkers in
Modern
Medicine
Chinmayananda Pati, PhD scholar
Introduction
• Biomarkers are measurable indicators of biological processes.
• They show normal or abnormal activity in the body.
• Found in blood, urine, saliva, or tissues.
• Used to detect and monitor diseases.
• Help in understanding disease progression.
• Examples: Blood glucose, cholesterol levels.
• Crucial in both research and clinical diagnosis.
Types of Biomarkers
• Diagnostic: Identify disease presence (e.g., PSA for prostate cancer).
• Prognostic: Predict disease outcome (e.g., HER2 in breast cancer).
• Predictive: Predict treatment response (e.g., EGFR in lung cancer).
• Monitoring: Track treatment success (e.g., HbA1c for diabetes).
• Risk Marker: Estimate chance of disease (e.g., LDL for heart disease).
• Pharmacodynamic: Show biological response to treatment.
• Safety Biomarkers: Signal toxic effects from treatments.
Where Do Biomarkers Come From?
• Blood: Easiest to access; used in most clinical tests.
• Urine: Helpful in kidney and urinary tract conditions.
• Saliva: Non-invasive source for hormonal or stress markers.
• Tissues: Biopsies help in identifying cancer types.
• Cerebrospinal fluid: Useful in neurological disease.
• Exhaled breath: Under research for lung diseases.
• Imaging: MRI, PET scans can be used as visual biomarkers.
Biomarkers by Disease
• Cancer: CA-125 (ovarian), HER2 (breast), KRAS (colorectal).
• Heart Disease: Troponin, BNP (heart failure).
• Diabetes: HbA1c, fasting glucose, insulin levels.
• Neurological: Amyloid-beta (Alzheimer’s), NfL (brain damage).
• Kidney Disease: Creatinine, Albumin-to-Creatinine Ratio (ACR).
• Liver Disease: ALT, AST, bilirubin.
• Infections: Procalcitonin (bacterial), CRP (general).
Common Biomarkers
• HbA1c: Indicates blood sugar levels over 3 months.
• PSA (Prostate-Specific Antigen): Prostate health indicator.
• CRP (C-reactive protein): Shows inflammation or infection.
• Troponin: Signals heart muscle injury.
• LDL/HDL: Risk factors for heart disease.
• Beta-hCG: Confirms pregnancy.
• ALT/AST: Liver function m
Importance
• Detect diseases like cancer or diabetes early.
• Help track if treatment is working or not.
• Reduce trial-and-error in drug prescriptions.
• Aid in personalizing treatment for each patient.
• Can prevent disease complications.
• Improve patient outcomes and reduce costs.
• Used in both diagnosis and long-term monitoring.
Case Study - Diabetes
• Biomarker: HbA1c (Hemoglobin A1c).
• Reflects average blood sugar over 2–3 months.
Levels:
• <5.7% = Normal
• 5.7–6.4% = Pre-diabetes
• ≥6.5% = Diabetes
• Helps in diagnosis and monitoring of treatment.
• Reduces risk of long-term complications.
• ADA recommends checking every 3–6 months.
• Often combined with fasting blood glucose tests.
Case Study - Heart Attack
• Biomarker: Troponin I or T.
• Released when heart muscle cells are damaged.
• Detected within 2–4 hours of heart attack.
• High-sensitivity troponin tests now available.
• Measured in blood multiple times to confirm diagnosis.
• Helps doctors begin treatment immediately.
• Combined with ECG for accurate assessment.
Case Study - Prostate Cancer
• Biomarker: PSA (Prostate-Specific Antigen).
• Normal levels: 0–4 ng/mL.
• High levels may suggest prostate cancer or enlargement.
• Not specific to cancer — requires further tests (biopsy, imaging).
• PSA testing recommended in men >50 years.
• Used in screening, diagnosis, and monitoring.
• PSA doubling time is also used for prognosis.
New Innovations in Biomarkers
• Liquid Biopsy: Detect cancer DNA in blood — no surgery.
• Genomic Biomarkers: Identify gene mutations (e.g., BRCA1).
• Proteomics: Study of proteins in cells or blood.
• Wearables: Smartwatches track heart rate, glucose.
• Microbiome Biomarkers: Gut bacteria linked to disease.
• Epigenetic Markers: DNA methylation patterns.
• Circulating Tumor Cells (CTCs): Monitor cancer spread.
AI and Biomarkers
• AI helps analyze massive biological data quickly.
• Detects hidden patterns doctors may miss.
• Aids in early disease prediction (e.g., AI for cancer detection).
• Speeds up new biomarker discovery.
• Used in image analysis (radiology, pathology).
• Improves accuracy of treatment recommendations.
• Supports drug development and clinical trials.
Challenges to Overcome
• Biomarkers must be validated in large populations.
• False positives/negatives can cause wrong decisions.
• High testing costs for advanced markers.
• Variation across individuals (age, gender, ethnicity).
• Ethical concerns in genetic biomarkers.
• Limited access in rural/low-resource settings.
• Regulatory approvals take time.
Future Aspects
• Biomarkers + AI = Personalized Medicine.
• Routine check-ups will include more biomarker tests.
• Wearables to monitor in real-time.
• Early disease warnings before symptoms start.
• Precision medicine to treat based on your biology.
• More reliable, low-cost point-of-care tests.
• Global biomarker databases will improve diagnosis.
Summary
• Biomarkers help in diagnosing, monitoring, and treating diseases.
• Cover all fields: cancer, heart, diabetes, infections, brain, etc.
• Innovations like AI and genomics are shaping the future.
• Real-life examples prove their importance in daily care.
• Easy to collect from blood, urine, or tissues.
• The future is digital, data-driven, and personalized.
• Learning about biomarkers = better health decisions.
References
1. Strimbu K, Tavel JA. What are biomarkers? Curr Opin HIV AIDS. 2021.
2. Lee TH et al. Biomarkers in Cardiovascular Disease. JAMA. 2022.
3. Zhang X et al. AI and Biomarker Discovery. Nat Rev Drug Discov. 2023.
4. World Health Organization: Biomarker Guidelines. 2022.
5. American Diabetes Association. HbA1c Standards. 2024.
6. NIH Biomarkers Definitions Working Group. Updated Guidance. 2023.
7. Mayo Clinic Lab Tests Database. Accessed 2024.
