Comprehensive Guide to Biomarkers in Personalised Healthcare

Flashcards covering definitions, uses, and specific examples of biomarkers in clinical diagnostics and personalized medicine based on the lecture notes.

Biomarkers

A characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes or pharmacologic responses to a therapeutic intervention.

Biosensor

A device used to analyse biomarkers.

Diagnostic biomarkers

Biomarkers used for early detection and disease classification.

Predictive biomarkers

Biomarkers used to identify patients likely to develop a disease, respond to a specific pharmacotherapy, or likely to have an adverse effect.

Metabolism biomarkers

Biomarkers used for dose defining and monitoring.

Outcome biomarkers

Biomarkers used to forecast disease progression or recurrence.

Presymptomatic and predicting testing

Testing to determine if a patient has inherited an autosomal dominant gene variant causing late onset for a condition before signs and symptoms occur.

Carrier testing

Biomarkers used as predictive or prenatal tools within a family to identify individuals heterozygous for a recessive allele that, when homozygous, causes a genetic disorder.

Disease classification

A diagnostic tool used to confirm or rule out a cause of illness and guide treatment when a patient is symptomatic.

Companion diagnostics

Tests that must take place before a specific pharmacotherapy can be prescribed to determine who would benefit from the therapy.

$CYP2C9$ genotyping and $INR$ measurement

Metabolism biomarkers used to define and monitor the dose of Warfarin.

$TPMT$ (thiopurine S-methyltransferase) activity

A metabolism biomarker used for dosing Thiopurines.

$HLA-B5701$ allele

A biomarker associated with a severe hypersensitivity reaction to the drug Abacavir.

Statin-induced myopathy

A condition associated with solute carrier organic transporter variations when taking Simvastatin.

Biomarker signatures

Unique, specific, and complex combinations of two or more biomarkers that reflect a biological state and provide greater predictive power than a single biomarker.

$BRCA1$ and $BRCA2$ mutations

Markers used for breast cancer type determination and characterisation.

$HER-2$ overexpression

A biomarker used to determine eligibility for treatment with Traztuzumab in breast cancer patients.

$EGFR$ mutation

A biomarker used to determine treatment with Gefitinib in non-small cell lung cancer.

Philadelphia chromosome

A biomarker used to identify positive chronic myeloid leukaemia for treatment with Gleevac.