Pharmacogenetics Glossary

Term

Description

Alt_allele

The alternative allele which does not cause a metabolic effect that we are interested in assessing.

Annotation text

The annotation text for each gene-drug interaction describes how it affects the overall drug metabolism and the body’s response to how it handles the specific phenotype. The annotation text explains the relationship or interaction between a drug and a gene variant.

Category

The type of drug from a pharmacological perspective in terms of the drug's mechanism of action and its biological target. A function to categorize drugs according to class as an aid in navigating through the report. 

Dosage

How much of a drug you take. Your genes can affect your required drug dosage, so you need more or less of a particular drug.

Drug

The term “drug” in the context of pharmacogenetics refers to a chemical substance used to treat, cure, diagnose or prevent a disease or condition. Alternatives for this term include medication, pharmaceutical or therapeutic agent. In this context, “drug” does not refer to any type of illegal stimulant or recreational drug.

Efficacy

Refers to whether a drug has an increased or decreased effect in alleviating a specific disease's symptoms. Your genes can influence whether a drug is more or less effective at reaching its desired action.

Gene-drug interaction

The influence of genes on how drugs are processed or metabolised in your body. 

Genetic variant

The genetic variant refers to the variation in the DNA sequence in each genome. Our DNA sequence is composed of nucleotides (A, C, T, G), and for the most part, our DNA sequence is the same; however, there are segments along the DNA where the code is variable from person to person. These segments are called genetic variants, making us all unique, whether in terms of hair colour, skin colour or even the shape of our faces. There are different types of genetic variants, and the most common ones are single nucleotide changes called single nucleotide polymorphisms (SNPs). Still, there are others like insertions, deletions, and copy number variations. 

Genotype_allele

You receive two sets of DNA (to be more precise, two sets of chromosomes), one from each parent, and so for each nucleotide in your DNA sequence, there are two corresponding nucleotides (letters). We also refer to these as alleles. Your allele refers to which nucleotides you have at a given location. When we put this in the context of genetic variants (locations in the DNA sequence that differ between individuals, please check above), we can say that each genetic variant has its corresponding genotype.

Each genotype comprises two alleles (letters or nucleotides) that come from your parents, which can either be the same or different. If they are the same, for example, from both parents, you inherited A; then it means you are homozygous for that genetic variant, and your genotype will be AA. However, if they are different, for example, you inherited A from your mother and G from your father or vice-versa, your genotype will be AG or GA, which is basically the same, and in this case, your genotype is heterozygous. So, in the above example, A and G are alleles that create a genotype that is AG.

Genotype

Refers to your genetic variants, your complete genetic information. 

Name

The scientific name of the respective drug. 

Phenotype

A person’s phenotype refers to the observable trait that results from their genotype and environment, for example, hair or eye color and blood type.

Pharmacogenetics

A field of study concerned with how genes and their variants interact with the metabolism of drugs, impacting how effective the drug will be for an individual, what dosage the individual will need for the desired effects, and whether the drug is likely to have toxic side effects. 

Pharmacokinetics

Refers to what happens to the drug when it has entered your body, what the body does to it, or how it moves through the metabolism to break the drug down into its components.

Population

A group of people based on specific criteria. Population groups are important as the group you belong to determines the applicability of certain research findings to the individual. In the context of your pharmacogenetic report, the population you belong to depends on your age - you are grouped either as pediatric or non-pediatric. This group determines whether a gene-drug interaction applies to you.

Ref_allele

The allele that causes the metabolic effect we are interested in assessing.

SA name

Name of the drug as sold in South Africa

Toxicity

Whether a drug is toxic to the body or causes side effects. If a drug is toxic to your body, it can also mean that it increases your risk for certain disorders.

Therapeutic class

The type of drug, from a medical perspective, in terms of the system or condition it is used to treat. A function to categorize drugs according to class as an aid in navigating through the report. 

US name 

Name of the drug in pharmacogenetics report as sold in the United States of America.