Genomic medicine strategy 2024 to 2029

Our strategy for transforming genomic medicine across Scotland from 2024 to 2029.

Annex 2: Glossary


A molecule, gene or characteristic that can help identify disease or process.


Chromosomes carry genetic information from cell to cell. Each chromosome consists of a single molecule of DNA, wrapped around many proteins. The number and/or structure of chromosomes is known to be altered in certain genetic conditions.

Circulating tumour DNA (ctDNA)

Fragments of DNA present in the bloodstream, originating from cancerous cell and tumours.


The study of chromosomes and their inheritance from parent to child.


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


Those parts of the gene which contain protein information are known as exons. The exome consists of all exons in the genome.


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 mean that there are different variants of each gene.


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

Genetic testing

The use of a laboratory test to examine an 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.


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.


A description of the specific variants of a gene that an individual has. DNA sequencing and other methods can be used to determine a person’s genotype.


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

Haematological malignancy

Cancers of the blood, bone marrow and lymph nodes (leukaemias, lymphomas, myelomas) that occur when abnormal cells grow uncontrollably and interfere with the normal functioning of blood cells.


Since DNA is passed from parents to children, genetic variants and any associated characteristics as passed from parents to children.

Molecular genetics

The study of heredity and variation at molecular level.

Molecular pathology

Molecular and genetic approach to the study and diagnosis of inherited disease, cancer and infectious disease.

Next-Generation Sequencing (NGS)

DNA sequencing establishes the sequence of nucleotide bases in a specific sample of DNA. NGS refers to the use of technologies for sequencing DNA that became available after the completion of the Human Genome Project, which are cheaper and faster than their predecessors.

Non-invasive prenatal testing/diagnosis (NIPT/NIPD)

NIPT can be offered to those whose pregnancy may be at risk of a specific monogenic condition or to determine the sex of a foetus in the context of an x-linked condition. In both NIPT and NIPD a maternal blood sample is taken to determine genetic conditions and the main difference is that NIPD is considered a diagnostic test but NIPT can be a screening test meaning that follow-up invasive diagnostic tests can be required.

Pre-implantation genetic diagnosis (PGD)

Pre-implantation genetic diagnosis (PGD) is a technique used to remove a small number of cells from fertilised embryo following in-vitro fertilisation (IVF) to test for a known genetic condition in the family. This methodology is a form of pre-conception genetic testing used before pregnancy to prevent families passing on genetic conditions to their children.


A bacteria, virus or other microorganism that can cause disease in humans, animals or plants.


Using knowledge of an individual’s genotype to give them suitable medicine in order to maximise safety and effectiveness.


An individual’s observable characteristics (such as blood type). A person’s phenotype is determined by their genotype and environmental factors.

Precision Medicine

Precision Medicine (PM) aims to deliver prevention and treatment tailored to individuals’ molecular characteristics. Effective implementation of PM requires seamless integration of laboratory, healthcare data, and decision support systems. Developing and maintaining such a platform relies on global collaborations between clinicians, scientists, patients, healthcare providers, and industry (pharmaceutical, digital companies and healthcare device manufacturers). Governance frameworks must protect and unite patients and communities (equity, public trust, data protection, and privacy), and that research, development, and innovation (rapid open publication, adoption into healthcare systems) are aligned to industry and policy developments (intellectual property protection, regulation, and cost-effectives) so that clinical adoption is rapid.


Proteins are structures produced from genes, which have many different functions within the body and determine many of our physical and biological characteristics.


Ribonucleic acid, a molecule present in all living cells. Its acts as a messenger, allowing protein to be produced from DNA genes.


As in genomic sequencing: a process by which the sequence of nucleotide bases in DNA is determined for individual genes or entire genomes.

Solid Tumour

Also known as solid cancers. Abnormal growth of cells that do not contain liquid or cysts.


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

Trio sequencing

Family trio sequencing is a powerful technique that can explain genetic conditions by looking at differences between the exome or genome of an affected child and that of their biological parents.


DNA sequence differences among individual people or populations. Some variants influence specific biological functions.

Whole Exome Sequencing

Genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome).

Whole Genome Sequencing

Genomic technique for sequencing the complete DNA sequence of an organisms genome – the entire genetic code.



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