Pharmacogenetics Glossary
( adapted from the UK House of Lords Report on Genomic Medicine, 2009 )
Bioinformatics The application of computers and computational expertise to analyse, visualise, catalogue and interpret large biological datasets in the context of the genome sequences of humans and other species.
Biomarker A characteristic that can be objectively measured and evaluated as an indicator of normal biologic processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention.
Biomedical informatics The application of bioinformatics and computational expertise in support of the practice of medicine and the delivery of healthcare.
Biotechnology The industrial application of biological processes, particularly DNA technology and genetic engineering.
Carrier A person who has inherited a genetic trait or mutation but does not display the disease. Such a genetic trait can be passed on to successive generations.
Chromosome A sub-cellular structure made up of tightly coiled DNA which contains many genes.
Clinical research Studies performed in humans that are intended to increase knowledge about how well a diagnostic test or treatment works in a particular patient population.
Clinical trials Research study conducted with patients, usually to evaluate a new treatment or drug.
Clinical utility The risks and benefits resulting from using a test.
Clinical validity The accuracy with which a test identifies or predicts a patient's clinical status.
Complex disease A phenotype that results from the actions of multiple genes and their interaction with other factors such as lifestyle and the environment.
Copy number variation The differing number of copies of a particular DNA sequence in the genomes of different individuals.
Cytogenetics The study of the relationships between the structure and number of chromosomes and variation in genotype and phenotype.
Diagnostic test A term used to describe particular tests that are able to identify a recognised condition.
DNA (Deoxyribonucleic acid) The chemical that comprises the genetic material of all cellular organisms.
DNA sequencing Determination of the order of bases in a DNA molecule.
Environmental factors Factors in the environment that may have an effect on the development of disease, such as chemical or dietary factors.
Epigenetics The study of changes in gene function that occur without a change in the DNA sequence.
Expression profile A collection of genetic data, usually generated using microarrays, that describes the extent to which every gene in the genome is switched on or off in a particular tissue sample.
Gene The basic unit of heredity found in chromosomes. A length of DNA that carries the genetic information necessary for production of a protein.
Gene expression The process by which a gene is activated at a particular time and place so that its functional product, or protein, is produced.
Genetic counselling Providing an assessment of heritable risk factors and information to patients and their relatives concerning the consequences of a disorder, the chance of developing or transmitting it, how to cope with it, and ways in which it can be prevented, treated, and managed.
Genetic epidemiology Study of the correlations between phenotypic trends and genetic variation across population groups and the application of the results of such a study.
Genetic predisposition Having some genetic factor(s) that may make an individual more likely to develop a particular condition than the general population.
Genetic screening Testing a population group to identify a subset of individuals at high risk for having or transmitting a specific genetic disorder.
Genetic test An analysis performed on human DNA, RNA, genes and/or chromosomes to detect heritable or acquired genotypes.
Genome The unique genetic code or hereditary material of an organism, carried by a set of chromosomes in the nucleus of each cell.
Genomic medicine The use of genetic information and genomic tools to determine disease risk and predisposition, diagnosis, prognosis, and the selection and prioritisation of
therapeutic options.
Genomic profile A collection of genetic information that records an individual's genotype at hundreds of thousands of locations in their genome
Genotype The specific genetic makeup of an individual at a particular location in their genome. Sometimes used to indicate the collective genotype at all points in their genome. Although genotypes give rise to the phenotype of an individual, genotypes and phenotypes are not always directly correlated. For example, some genotypes are expressed only under specific environmental conditions.
In vitro (Latin: within the glass) This term refers to experiments performed in an artificial environment like a test tube or culture media.
Locus (plural loci) The specific site on a chromosome at which a particular gene or other DNA landmark is located.
Microarray Sometimes called a gene chip or a DNA chip. A high throughput technology that enables the detection of gene expression levels or the detection of SNPs within the genome.
Mutation A change to the nucleotide sequence of the genetic material of an organism.
Nucleotide One of the building blocks of DNA or RNA. There are four nucleotides in DNA: Adenine (A), cytosine (C), guanine (G), and thymine (T). These are the "letters" or "bases" of the genetic code.
Penetrance The likelihood that a person carrying a particular mutant gene will have an altered phenotype such as a genetic disorder.
Pharmacogenetics The study of the way in which variation in individual genes affects drug metabolism and responsiveness, and the application of this information into clinical practice.
Pharmacogenomics The study of the way in which genetic variation across the genome affects drug metabolism and responsiveness, and the application of this information into clinical practice.
Phenotype The appearance of an organism based on a combination of genetic traits and environmental factors.
Polygenic trait A trait affected by many genes, with no one gene having a large influence.
Prenatal test Procedure done to determine the presence of disease or defect in a fetus.
Protein A molecule composed of amino acids linked together in a particular order specified by a gene's DNA sequence. Proteins perform a wide variety of functions including serving as enzymes, structural components or signalling molecules.
Protein expression The measurement of the presence and abundance of one or more proteins in a particular cell or tissue.
Ribonucleic acid A chemical that is copied from the DNA on an individual's chromosomes, that carries the genetic information required to produce cellular proteins.
Sensitivity of a clinical test The proportion of individuals with a disease phenotype who test positive.
Single nucleotide polymorphism (SNP) A variation in a DNA sequence that occurs when a single nucleotide in a genome is altered in at least 1 per cent of the population. The human genome contains approximately 10 million SNPs.
Specificity of a clinical test The proportion of individuals without a disease phenotype clinical test who test negative.
Stratified medicine The targeting of healthcare interventions, particularly drug treatments, to well-defined subgroups of patients
Translational research The process of using novel laboratory findings to develop clinical applications and practical advances in health care.
