Abstract
Physicians have long been aware of the subtle differences in the responses of patients to medication. The recognition that a part of this variation is inherited, and therefore predictable, created the field of pharmacogenetics fifty years ago. Knowing the gene variants that cause differences among patients has the potential to allow 'personalized' drug therapy and to avoid therapeutic failure and serious side effects.
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Acknowledgements
Research in the author's laboratory is supported by the Swiss National Science Foundation.
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Glossary
- ALCAPTONURIA
-
A rare inherited disorder of metabolism that is characterized by urine which turns black when exposed to air.
- ANTI-ARRHYTHMICS
-
Medicines that are used to treat patients who have irregular heart rhythms.
- APNEA
-
The absence of breathing (respirations).
- CHEMICAL INDIVIDUALITY
-
Garrod's influential idea that 'factors which confer upon us our predisposition and immunities from disease are inherent in our very chemical structure, and even in the molecular groupings which went to the making of the chromosomes from which we sprang.'
- DIPLOPIA
-
Double vision. Usually due to misalignment of the eyes.
- FAMILIAL DYSAUTONOMIA
-
A disorder of the autonomic nervous system that is inherited as an autosomal recessive trait and is characterized by several sensory deficits (as of taste and pain), excessive sweating and salivation, lack of tears, difficulty in swallowing and many other symptoms.
- HYPERBILIRUBINEMIA
-
Abnormally high levels of bilirubin in the blood.
- ISONIAZID
-
An anti-bacterial drug that has been used to prevent and to treat tuberculosis since 1952.
- MALIGNANT HYPERTHERMIA
-
A group of inherited muscle problems characterized by muscle breakdown following certain stimuli — such as anesthesia, extremes of exercise (particularly in hot conditions), fever, or use of stimulant drugs. The problems associated with this condition result from over-excitable muscles that contract uncontrollably, severe fever, abnormal heart rhythms, and kidney failure.
- MEPHENYTOIN
-
An anticonvulsant that is indicated for the treatment of tonic-clonic and partial seizures in patients who are not controlled with less-toxic medications.
- METHEMOGLOBINEMIA
-
An inherited blood disorder that is characterized by increased levels of an abnormal form of haemoglobin that is unable to deliver oxygen effectively.
- NORTRIPTYLINE
-
An antidepressant medication of the tricyclic class. Medications in this class are often referred to as tricyclic antidepressants, or TCAs.
- OPIOIDS
-
Synthetic opium-like drugs that possess some affinity for any, or all, of the opioid-receptor subtypes. Common opioids are endorphin, fentanyl and methadone.
- OXYTOXIC
-
A drug that is useful in starting or aiding in labour. Also used to stimulate uterine contractions.
- PERIPHERAL NEUROPATHY
-
A problem in peripheral nerve function (any part of the nervous system except the brain and spinal cord) that causes pain, numbness, tingling, swelling, and muscle weakness in various parts of the body. Neuropathies might be caused by physical injury, infection, toxic substances, disease (for example, cancer, diabetes, kidney failure, or malnutrition), or drugs such as anticancer drugs.
- PHARMACODYNAMICS
-
The process of interaction of pharmacologically active substances with target sites, and the biochemical and physiological consequences leading to therapeutic or adverse effects.
- PHARMACOKINETICS
-
The rocess of the uptake of drugs by the body, the biotransformation they undergo, the distribution of the drugs and their metabolites in the tissues, and the elimination of the drugs and their metabolites from the body.
- PORPHYRIA
-
A group of disorders that are characterized by the excessive production of porphyrins or their precursors, and which arise from abnormalities in the regulation of the porphyrin–heme pathway. Acquired pophyrias, which are due to inhibition of enzymes in the metabolic pathway by a drug, toxin or abnormal metabolite, are more common than those that are inherited.
- PSEUDOCHOLINESTERASE DEFICIENCY
-
A rare genetic disorder that causes an absence of the plasma enzyme pseudocholinesterase, which can cause respiratory difficulty during surgery if the muscle-relaxing drug succinylcholine is used.
- SYMPATHICOLYTIC
-
Interfering with, opposing, inhibiting, or destroying impulses from the sympathetic nervous system.
- WARFARIN
-
An oral anticoagulant that inhibits the synthesis of clotting factors, thus preventing blood-clot formation.
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Meyer, U. Pharmacogenetics – five decades of therapeutic lessons from genetic diversity. Nat Rev Genet 5, 669–676 (2004). https://doi.org/10.1038/nrg1428
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DOI: https://doi.org/10.1038/nrg1428
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