Genomic Medicine - Science and Technology Committee Contents

APPENDIX 6: ACRONYMS AND GLOSSARY

Acronyms
ABI	Association of British Insurers
ABPI	Association of the British Pharmaceutical Industry
AMRC	Association of Medical Research Charities
AMS	Academy of Medical Sciences
ASA	Advertising Standards Authority
BERR	Department for Business, Enterprise and Regulatory Reform
BIA	Bioindustry Association
BIS	Department for Business, Innovation and Skills
BSHG	British Society for Human Genetics
CESAGEN	Collaborative Centre of the ESRC Genomics Network
DCTs	Direct to Consumer Tests
DoH	Department of Health
DIUS	Department for Innovation, Universities and Skills
DTI	Department of Trade and Industry
EBI	European Bioinformatics Institute
EHR	Electronic Health Record
ELIXIR	European Life-science Infrastructure for Biological Information
ESFRI	European Strategy Forum on Research Infrastructures
ESRC	Economic and Social Research Council
FDA	US Food and Drug Administration
GAIC	Genetics and Insurance Committee
GINA	Genetic Information Non-discrimination Act
GMC	General Medical Council
GWAS	Genome-wide association study
HGC	Human Genetics Commission
HIV	Human immunodeficiency virus
HTA	Health Technology Assessment
ICO	Information Commissioner's Office
IMG	Institute of Medical Genetics
IMI	Innovative Medicines Initiative
IP	Intellectual property
IPO	Intellectual property Office
JCMG	Joint Committee on Medical Genetics
LIMS	Laboratory Information Management System
MHRA	Medicines Healthcare products Regulatory Agency
MRC	Medical Research Council
MSC	Modernising Scientific Careers
NCBI	National Center for Biotechnology Information
NGEDC	National Genetics Education and Development Centre
NGRL	National Genetics Reference Laboratory
NHGRI	US National Human Genome Research Institute
NHS	National Health Service
NICE	National Institute for Health and Clinical Excellence
NIHR	National Institute of Health Research
OECD	Organisation for Economic Co-operation and Development
ON	Oxford Nanopore Technologies
OSCHR	Office for Strategic Co-ordination of Health Research
PCT	Primary Care Trust
PHGF	Public Health Genetics Foundation
PMETB	Postgraduate Medical Education and Training Board
PPRS	Pharmaceutical Price Regulation Scheme
RCGP	Royal College of General Practitioners
RCPath	Royal College of Pathologists
RCUK	Research Councils UK
SCG	Specialised Commissioning Group
SGPPH	Society for Genomics Policy and Population Health
SHA	Strategic Health Authority
SNP	Single Nucleotide Polymorphism
TSB	Technology Strategy Board
TUC	Trades Union Congress
UKGTN	UK Genetic Testing Network
WT	Wellcome Trust
WTSI	Wellcome Trust Sanger Institute

Glossary
Bioinformatics	The application of computers and computational expertise to analyse, visualise, catalogue and interpret large biological datasets in the context of the genome sequences of humans and other species.
Biomarker	A characteristic that can be objectively measured and evaluated as an indicator of normal biologic processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention.
Biomedical informatics	The application of bioinformatics and computational expertise in support of the practice of medicine and the delivery of healthcare.
Biotechnology	The industrial application of biological processes, particularly DNA technology and genetic engineering.
Carrier	A person who has inherited a genetic trait or mutation but does not display the disease. Such a genetic trait can be passed on to successive generations.
Chromosome	A sub-cellular structure made up of tightly coiled DNA which contains many genes.
Clinical research	Studies performed in humans that are intended to increase knowledge about how well a diagnostic test or treatment works in a particular patient population.
Clinical trials	Research study conducted with patients, usually to evaluate a new treatment or drug.
Clinical utility	The risks and benefits resulting from using a test.
Clinical validity	The accuracy with which a test identifies or predicts a patient's clinical status.
Complex disease	A phenotype that results from the actions of multiple genes and their interaction with other factors such as lifestyle and the environment.
Copy number variation	The differing number of copies of a particular DNA sequence in the genomes of different individuals.
Cytogenetics	The study of the relationships between the structure and number of chromosomes and variation in genotype and phenotype.
Diagnostic test	A term used to describe particular tests that are able to identify a recognised condition.
DNA	(Deoxyribonucleic acid). The chemical that comprises the genetic material of all cellular organisms.
DNA sequencing	Determination of the order of bases in a DNA molecule.
Environmental factors	Factors in the environment that may have an effect on the development of disease, such as chemical or dietary factors.
Epigenetics	The study of changes in gene function that occur without a change in the DNA sequence.
Expression profile	A collection of genetic data, usually generated using microarrays, that describes the extent to which every gene in the genome is switched on or off in a particular tissue sample.
Gene	The basic unit of heredity found in chromosomes. A length of DNA that carries the genetic information necessary for production of a protein.
Gene expression	The process by which a gene is activated at a particular time and place so that its functional product, or protein, is produced.
Genetic counselling	Providing an assessment of heritable risk factors and information to patients and their relatives concerning the consequences of a disorder, the chance of developing or transmitting it, how to cope with it, and ways in which it can be prevented, treated, and managed.
Genetic epidemiology	Study of the correlations between phenotypic trends and genetic variation across population groups and the application of the results of such a study.
Genetic predisposition	Having some genetic factor(s) that may make an individual more likely to develop a particular condition than the general population.
Genetic screening	Testing a population group to identify a subset of individuals at high risk for having or transmitting a specific genetic disorder.
Genetic test	An analysis performed on human DNA, RNA, genes and/or chromosomes to detect heritable or acquired genotypes.
Genome	The unique genetic code or hereditary material of an organism, carried by a set of chromosomes in the nucleus of each cell.
Genomic medicine	The use of genetic information and genomic tools to determine disease risk and predisposition, diagnosis, prognosis, and the selection and prioritisation of therapeutic options.
Genomic profile	A collection of genetic information that records an individual's genotype at hundreds of thousands of locations in their genome
Genotype	The specific genetic makeup of an individual at a particular location in their genome. Sometimes used to indicate the collective genotype at all points in their genome. Although genotypes give rise to the phenotype of an individual, genotypes and phenotypes are not always directly correlated. For example, some genotypes are expressed only under specific environmental conditions.
In vitro	(Latin: within the glass) This term refers to experiments performed in an artificial environment like a test tube or culture media.
Locus (plural loci)	The specific site on a chromosome at which a particular gene or other DNA landmark is located.
Microarray	Sometimes called a gene chip or a DNA chip. A high throughput technology that enables the detection of gene expression levels or the detection of SNPs within the genome.
Mutation	A change to the nucleotide sequence of the genetic material of an organism.
Nucleotide	One of the building blocks of DNA or RNA. There are four nucleotides in DNA: Adenine (A), cytosine (C), guanine (G), and thymine (T). These are the "letters" or "bases" of the genetic code.
Penetrance	The likelihood that a person carrying a particular mutant gene will have an altered phenotype such as a genetic disorder.
Pharmacogenetics	The study of the way in which variation in individual genes affects drug metabolism and responsiveness, and the application of this information into clinical practice.
Pharmacogenomics	The study of the way in which genetic variation across the genome affects drug metabolism and responsiveness, and the application of this information into clinical practice.
Phenotype	The appearance of an organism based on a combination of genetic traits and environmental factors.
Polygenic trait	A trait affected by many genes, with no one gene having a large influence.
Prenatal test	Procedure done to determine the presence of disease or defect in a fetus.
Protein	A molecule composed of amino acids linked together in a particular order specified by a gene's DNA sequence. Proteins perform a wide variety of functions including serving as enzymes, structural components or signalling molecules.
Protein expression	The measurement of the presence and abundance of one or more proteins in a particular cell or tissue.
Ribonucleic acid	A chemical that is copied from the DNA on an individual's chromosomes, that carries the genetic information required to produce cellular proteins.
Sensitivity of a clinical	The proportion of individuals with a disease phenotype test who test positive.
Single nucleotide polymorphism (SNP)	A variation in a DNA sequence that occurs when a single nucleotide in a genome is altered in at least 1 per cent of the population. The human genome contains approximately 10 million SNPs.
Specificity of a clinical test	The proportion of individuals without a disease phenotype who test negative.
Stratified medicine	The targeting of healthcare interventions, particularly drug treatments, to well-defined subgroups of patients
Translational research	The process of using novel laboratory findings to develop clinical applications and practical advances in health care.

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