Glossary of terms/abbreviations used in report
General terms
Bioinformatics: the science of analysing large quantities of genetic and other biological data
Clinical pathway: the full process of steps taken in treating a patient, including initial assessment, referral, consenting, testing, receiving a diagnostic result, and the clinical consequences
Exome: the 1% of DNA that provides instructions to the body on what proteins to produce
Germline cells: sperm or egg cells, in which any changes in DNA will be passed on to future generations
Genome: the entire DNA sequence, found in almost every cell in the human body
Genome editing: techniques for precisely editing, deleting or inserting genetic material at specific points in genome sequences
Mitochondrial donation: a technique that allows women whose mitochondria (structures found in the fluid inside cells) carry serious inherited disease to give birth to children free from mitochondrial disease, by transferring ‘packets’ of the mother’s nuclear DNA to a donor cell containing healthy mitochondria; this technique was legalised by Parliament in 2015
Panel testing: panel testing involves sequencing multiple genes simultaneously, varying from a few genes known to relate to a particular condition through to all known genes with disease-related function
Predictive test results: genetic test results revealing a predisposition to developing a condition in the future, for which symptoms or any other signs have not yet appeared; because whole genome sequencing tests the entire genome, it can uncover predictive results alongside results concerning the suspected condition that prompted the sequencing
Pseudonymisation: a process in which personally identifiable information in a digital record is replaced with a unique code, in order to minimise the risk of identification while still providing a route for the record to be linked back to the individual (for example to return medically-relevant information to them)
Rare disease: the Department of Health and Social Care defines a disease as rare if it is a life-threatening or chronically debilitating condition that affects fewer than 6 people in 10,000 and requires special, combined efforts to enable it to be diagnosed and treated effectively; there are over 6,000 rare diseases, which together affect 1 in 17 people in the UK at some point in their lives
Revalidation: in order to practise medicine in the UK, doctors require a licence to practise—this must be renewed (usually every five years), and the process of demonstrating continued fitness to practise is called revalidation
Sequencing: the process of determining the letters of DNA in a genome, and the order in which they appear
Somatic cells: all cells other than those involved in reproduction; changes to DNA in somatic cells will not be passed on to future generations
Variant: a difference in a patient’s genome sequence compared to the reference ‘standard’ human genome; variants can be benign, related to increased risk of disease, or of unknown significance
Viral vectors: viral vectors are products required to carry out common techniques for genome editing
Abbreviations
ABI: Association of British Insurers
ABPI: Association of the British Pharmaceutical Industry
CMO: Chief Medical Officer for England and Chief Medical Advisor to the Government
DNA: Deoxyribonucleic acid
HARP: Health Advanced Research Programme, as proposed in the Life Sciences Industrial Strategy
MHRA: Medicines and Healthcare products Regulatory Agency
NHS: National Health Service
NICE: National Institute for Health and Care Excellence
RNA: Ribonucleic acid
Published: 20 April 2018