Genomics in Scotland strategy: child rights and wellbeing impact assessment - stage 1 and 2

Key terms

DNA: Deoxyribonucleic acid, or DNA, is a long molecule that contains genetic information. This information is encoded in the sequence of individual sub-units, or ‘nucleotide bases’, which make up the DNA.

Cascade testing: A process of informing family members of a genetic condition discovered within the family, followed by family members being offered testing for the condition.

Genes: A gene is the basic unit of inheritance, passed from parents to children as DNA. Each gene is found in a specific section of the genome and most contain information to produce a specific protein. Differences in the sequence of nucleotide bases means that there are different variants of each gene.

Genetics: The study of genes, genetic variation, and inheritance in living organisms.

Genetic testing: The use of a laboratory test to examine a person’s DNA for variations. In a medical setting, the results of genetic testing can be used to confirm or rule out a suspected genetic condition, to assess the likelihood of parents passing on a genetic variation to their children or to study the genomes of cancer tumours.

Genome: The entire set of DNA instructions in a cell, unique to each person.

Genomic medicine: The use of genetic information to inform and shape medical care or predict the risk of disease.

Germline: Characteristics or changes (germline variants) that are inherited through families.

Metastatic cancer: Cancer that spreads from its site of origin to another part of the body.

Somatic: Characteristics or changes (somatic variants) that are acquired during a person’s lifetime.