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Foundation Sciences · Genetics
Pharmacogenomics in Practice
Pharmacogenomics studies how genetic variation influences drug response, enabling more personalised prescribing.
📌 Learning Objectives
- Describe the underlying mechanism of Pharmacogenomics in Practice.
- Identify the key clinical features and complications of Pharmacogenomics in Practice.
- Outline the appropriate investigations and management of Pharmacogenomics in Practice.
- Discuss the implications for patients and families of Pharmacogenomics in Practice.
📋 Overview
Examples include CYP2C19 and clopidogrel response, CYP2D6 and codeine metabolism, TPMT and azathioprine toxicity, HLA-B*57:01 and abacavir hypersensitivity, HLA-B*15:02 and carbamazepine-induced SJS in some populations.
🔬 Basic Science
Examples include CYP2C19 and clopidogrel response, CYP2D6 and codeine metabolism, TPMT and azathioprine toxicity, HLA-B*57:01 and abacavir hypersensitivity, HLA-B*15:02 and carbamazepine-induced SJS in some populations.
🏥 Clinical Relevance
HLA-B*57:01 testing is standard before abacavir initiation.
🧪 Investigations
Investigation depends on clinical context: relevant blood tests, imaging, and specific genetic or histopathological tests as appropriate. Refer to specialist services where indicated.
💊 Management
Management is condition-specific and typically multidisciplinary, combining medical therapy, surgical intervention where appropriate, supportive care, and family/genetic counselling.
Revision Resources – expand the sections below for high-yield notes, exam pearls, key facts and further reading.
MLA High-Yield Notes & Quick Revision ⌄
Common SBA themes: recognising the underlying mechanism, identifying classic clinical features, and choosing the first-line investigation or management step. Watch for inheritance pattern and characteristic associations.
pharmacogenomics
tpmt
cyp2c19
hla-b*57:01
dpyd
- TPMT deficiency increases risk of thiopurine-induced myelosuppression.
- HLA-B*57:01 strongly predicts abacavir hypersensitivity.
- CYP2D6 ultrarapid metabolisers can develop morphine toxicity from codeine.
- CYP2C19 poor metabolisers have reduced clopidogrel efficacy.
- DPYD variants increase risk of fluoropyrimidine toxicity.
Exam Pearls ⌄
⭐ High Yield
TPMT deficiency increases risk of thiopurine-induced myelosuppression.
HLA-B*57:01 strongly predicts abacavir hypersensitivity.
CYP2D6 ultrarapid metabolisers can develop morphine toxicity from codeine.
CYP2C19 poor metabolisers have reduced clopidogrel efficacy.
DPYD variants increase risk of fluoropyrimidine toxicity.
💡 Clinical Pearl
Pharmacogenomics: HLA-B*57:01 testing is standard before abacavir initiation.
⚠️ Exam Tip — Common Mistakes
Confusing the mechanism of Pharmacogenomics in Practice with related conditions.
Missing classic clinical features of Pharmacogenomics in Practice in SBA stems.
Failing to consider Pharmacogenomics in Practice in the differential diagnosis.
Key Facts ⌄
TPMT deficiency increases risk of thiopurine-induced myelosuppression.
HLA-B*57:01 strongly predicts abacavir hypersensitivity.
CYP2D6 ultrarapid metabolisers can develop morphine toxicity from codeine.
CYP2C19 poor metabolisers have reduced clopidogrel efficacy.
DPYD variants increase risk of fluoropyrimidine toxicity.
Related Topics ⌄
References ⌄
- GMC MLA Content Map
- NICE Clinical Knowledge Summaries
- BMJ Best Practice
Further Resources
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