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Disease biomarkers: a new era of precision medicine

laboratory tests for biomarkers
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What are biomarkers and why are they needed?

Biomarkers (or biological markers) are objective, measurable indicators that reflect the physiological or pathological state of the body. They can be detected in blood, urine, tissues, saliva, or other biological fluids. Biomarkers allow you to detect a disease at an early stage, predict its course, monitor the effectiveness of treatment, or even predict the risk of its development.

In modern medicine, biomarkers are the basis of a personalized approach, when decisions are made not only based on symptoms, but also on the biochemical data of a particular patient.

Biomarker classification

Biomarker typeWhat does it show?Examples
DiagnosticHelp establish a diagnosisPSA (prostate cancer), Troponin (heart attack)
PrognosticPredict the course or outcome of a diseaseBRCA1/2 (risk of cancer), D-dimer (thrombosis)
PredictiveShow likely response to treatmentHER2 (response to targeted therapy)
MonitoringMonitor treatment effectiveness or relapseCEA, CA-125 (for oncology)
ScreeningUsed for mass testing of the populationglucose, cholesterol, Pap test
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Where are biomarkers most commonly used?

1. Oncology

  • PSA (prostate-specific antigen) — for the diagnosis and monitoring of prostate cancer

  • CA-125 — ovarian cancer marker

  • CEA (carcinoembryonic antigen) — for colorectal cancer

  • HER2 — for breast cancer to select therapy

  • KRAS, BRAF, EGFR — genetic markers to determine the effectiveness of targeted drugs

2. Cardiology

  • Troponin I and T — markers of myocardial damage (infarction)

  • BNP and NT-proBNP — in heart failure

  • LDL, HDL, CRP — to assess the risk of cardiovascular disease

3. Endocrinology

  • HbA1c (glycated hemoglobin) — long-term glucose control

  • TSH, T3, T4 — thyroid function markers

  • Insulin, C-peptide — assessment of pancreatic function

4. Infectious diseases

  • Procalcitonin — for the diagnosis of bacterial infection and sepsis

  • CRP (C-reactive protein) — nonspecific marker of inflammation

  • HBsAg, Anti-HCV — hepatitis B and C markers

  • Viral load (PCR) — HIV, COVID-19

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5. Autoimmune diseases

  • Antibodies to ACCP, rheumatoid factor — with rheumatoid arthritis

  • ANA (antinuclear antibodies) — with systemic lupus erythematosus

  • Antibodies to TPO — with Hashimoto's thyroiditis

doctor explains results to patient

An example of the use of biomarkers in clinical practice

Situation:
A 46-year-old female patient presents with complaints of lower abdominal pain. Ultrasound reveals an ovarian neoplasm.
Biomarker:
The CA-125 level is 210 U/ml (normal is up to 35).
Decision:
Surgery is performed. After surgery, the marker level is used to monitor recurrence.

Advantages of biomarkers

  • Disease detection on early stages

  • Less invasive diagnostics

  • Help in determining the forecast disease

  • Possibility monitor the effectiveness of treatment

  • The basis for personalized therapy

Limitation

  • Not all biomarkers are specific: increase can occur in several different conditions

  • Doesn't always mean illness: for example, CA-125 is also elevated in endometriosis

  • Price of tests — some are quite expensive

  • Need correct interpretation by a doctor

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Biomarkers of diseases are a tool that brings medicine closer to an individual approach. They allow not only to diagnose more accurately, but also to monitor the effectiveness of treatment, reduce the risks of complications and detect health threats in a timely manner. In the future, biomarkers will become the basis of personalized therapy for each patient.

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