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Trailblazing Biomarkers Shaping the Path to Personalized Medicine

NextEdge Admin

06 Jan 2024

3 min 54 sec

Cystic Fibrosis Transmembrane,Cystic Fibrosis Transmembrane Conductance Regulator

Here are some examples of biomarkers that have contributed to precision medicine outside of oncology:

1. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR):

– Associated Diseases: Cystic fibrosis.

– Role in Precision Medicine: Different mutations in the CFTR gene lead to cystic fibrosis. Targeted therapies like ivacaftor are designed to address specific CFTR mutations, offering personalized treatment for individuals with cystic fibrosis.

2. HLA-B*5701 (Human Leukocyte Antigen B*5701):

– Associated Diseases: Hypersensitivity to abacavir (an antiretroviral medication for HIV).

– Role in Precision Medicine: Testing for HLA-B*5701 helps identify individuals at risk of severe hypersensitivity reactions to abacavir. This information guides clinicians in choosing alternative HIV medications for personalized treatment.

3. Factor V Leiden and Prothrombin G20210A:

– Associated Diseases: Thrombophilia (increased risk of blood clots).

– Role in Precision Medicine: Genetic testing for mutations like Factor V Leiden and Prothrombin G20210A can identify individuals at a higher risk of thrombosis. This information is used to guide decisions on anticoagulant therapy and preventive measures.

4. CYP2C19 Genotype:

– Associated Diseases: Cardiovascular diseases (specifically, response to clopidogrel).

– Role in Precision Medicine: The CYP2C19 genotype influences the metabolism of clopidogrel, an antiplatelet medication. Testing for CYP2C19 variants helps personalize antiplatelet therapy after stent placement or in the management of acute coronary syndromes.

5. G6PD (Glucose-6-Phosphate Dehydrogenase):

– Associated Diseases: Hemolytic anemia.

– Role in Precision Medicine: G6PD deficiency can lead to hemolytic reactions triggered by certain medications. Understanding a patient’s G6PD status helps avoid drugs that could cause harm, ensuring safer and more personalized treatment.

6. HFE Gene (High Iron Fe):

– Associated Diseases: Hemochromatosis (iron overload disorder).

– Role in Precision Medicine: Mutations in the HFE gene can lead to hereditary hemochromatosis. Genetic testing helps diagnose individuals at risk and guide personalized management, including therapeutic phlebotomy.

7. APOE Genotype:

– Associated Diseases: Alzheimer’s disease.

– Role in Precision Medicine: APOE gene variants are associated with an increased risk of Alzheimer’s disease. Understanding a patient’s APOE genotype may contribute to personalized risk assessment and potentially inform interventions for prevention or management.

These examples demonstrate that precision medicine is not limited to oncology and extends to various medical specialties, allowing for tailored and more effective treatments based on individual genetic and molecular characteristics. As research continues, more biomarkers will likely be identified, contributing to the expansion of precision medicine across different areas of healthcare.