MedTech: Exploring the Human Genome

Glossary

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A
Adenine

• See Nucleotide.

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B
Big data

• The analysis of large data sets using algorithms to reveal patterns, trends, and associations.

Biobank

• A repository for human biological samples used in genetic and genomic research. Also known
as tissue banks, bioresources or biorepositories.

Bioinformatician

• A data scientist who is skilled in biology. Bioinformaticians analyse large biological data sets
to recognise faulty genes or assess risk factors. They are also known as biostatisticians or
computational biologists.

Biostatistician

• See Bioinformatician.

BRCA1

• Breast Cancer 1 (BRCA1) is a gene that normally acts to restrain the growth of cells in the
breast. A mutation in this gene can predispose an individual to breast cancer.

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C
Characteristics

• A feature or quality of a person such as hair colour, height and skin tone.

Chromosome

• A strand of DNA comprising several genes. See also Gene.

Computational biologist

• See Bioinformatician.

CRISPR

• A gene editing process for changing small sections of DNA. CRISPR stands for Clustered
Regularly Interspaced Short Palindromic Repeats. See also Gene editing.

Cytosine

• See Nucleotide.

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D
Designer babies

• A term used to represent and describe the concern that knowledge of genomics could enable
parents to choose for their unborn children to have certain specific genetic characteristics,
thereby ‘designing’ their baby.

DNA

• A long molecule, contained within the nucleus of all of our cells, that contains our unique
genetic code. DNA stands for deoxyribonucleic acid.

Dominant inheritance

• When an abnormal or faulty gene from one parent can cause a condition. See also Gene.

Down’s syndrome

• A genetic condition that is associated with physical growth delays, intellectual disability, and
characteristic facial features.

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E
Enzyme

• A biological substance that can catalyse and regulate chemical reactions in the body.

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G
Gene editing

• The process of singling out specific genes within the genetic code and modifying them, for
example to fix a faulty gene and cure a specific condition.

Gene

• A unit of DNA that controls the development of a specific trait, or regulates a specific function
within the body. See also DNA.

Genealogical

• Related to a person’s family history and ancestry.

General Data Protection Regulation (GDPR)

• European legislation introduced in 2018 to protect personal data by governing its storage and
use.

Genetics

• The study of the characteristics of living things that are transmitted from one generation to the
next through genes.

Genome

• An organism’s complete set of DNA, including all of its genes.

Genomic counselling

• A healthcare service offered to patients to help them to understand genomic testing, and how
the results of their own genomic tests might affect their lives and the lives of their families.

Genomics

• The study of an organism’s entire genome, including all of its genes.

Glucose

• A sugar that is broken down in the body during digestion to produce energy.

Gold standard

• A term used to describe the best instrument or diagnostic test available for a specific purpose.

Guanine

• See Nucleotide.

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I
In-house laboratories

• A test performed ‘in-house’ is performed in an institution such as a hospital where it is required,

as opposed to externally, for example at an independent lab.

Insulin

• A hormone responsible for moving glucose out of the blood during digestion.

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L
Lab-on-a-chip (LOC)

• A small chip that can be used to perform multiple laboratory processes. This technology has
enabled the miniaturisation of many medical devices, including genome sequencing technologies.

Liquid biopsy

• A procedure involving taking and analysing a sample of blood, saliva or urine from a patient. In
genomics, a patient’s genome can be sequenced from their blood or saliva.

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M
Mastectomy

• A surgical operation to remove a breast.

Monogenic diabetes

• A rare form of diabetes resulting from a mutation in a single gene.

Mutation

• An error in the sequence of nucleotides within a gene. This could be an incorrect nucleotide, or a
set of nucleotides in the wrong order. Mutations can lead to health disorders such as sickle cell
anaemia or cystic fibrosis. See also Nucleotide.

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N
NHS

• The National Health Service (NHS) is the publicly funded national healthcare system in the
United Kingdom.

Nucleotide

• The basic structural unit of DNA. The four nucleotides, normally represented by their initials, are
Adenine (A), Cytosine (C), Guanine (G) and Thymine (T).

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P
Patient pathway

• A patient’s route through a healthcare system from initial consultation, to diagnosis, to

treatment, to aftercare.

Primer

• A short nucleic acid sequence that provides a starting point for DNA synthesis.

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R
Risk

• A measure of exposure to danger, loss, or uncertainty. In genomics this is often expressed as a

probability.

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S
Safeguarding

• Measures put in place to help and to protect people from harm.

Sequence

• The order of the nucleotides C, A, G and T within a gene or genome. See also Nucleotides.

Sequencing

• The process of mapping out an organism’s DNA to see the order of the nucleotides C, A, G and T.
See also Nucleotide.

Stakeholder

• An individual, group or organisation that is impacted by the outcome of a project.

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T
Thymine

• See Nucleotide.

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